Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide [3 ed.] 1610025040, 9781610025041

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A Quick Reference Guide

3rd Edition

John F. Sarwark, MD, FAAP, FAAOS • Cynthia R. LaBella, MD, FAAP, FAMSSM

EFFICIENTLY RESPOND TO DIVERSE CLINICAL CHALLENGES. Get all the essentials for addressing • Common sports injuries • Fractures • Trauma • Limb disorders • Spine disorders • Hip and pelvis disorders • Infections • Tumors • Skeletal dysplasias • And more…

STREAMLINE ORTHOPAEDIC PROBLEM-SOLVING.

Plus, you’ll find step-by-step help with musculoskeletal examination and evaluation, casting and splinting, imaging techniques, and rehabilitation strategies.

FAST-ACCESS FEATURES HELP YOU GET RIGHT TO THE POINT. Bulleted, outline-format text lets you rapidly focus in on what you need. Full-color clinical photographs and illustrations, as well as radiographic images, demonstrate examination techniques and pathologic physical findings. Multiple tables and figures help simplify diagnosis.

For other pediatric resources, visit the American Academy of Pediatrics at shop.aap.org.

Pediatric Orthopaedics and Sports Injuries A Quick Reference Guide

3rd Edition

SARWARK • LABELLA

Each condition-focused chapter steps you through every stage of patient care. • Etiology/epidemiology • Signs and symptoms • Differential diagnosis • Diagnostic considerations • Treatment • Expected outcomes/prognosis • When to refer

NEW IN THE 3RD EDITION • Femoroacetabular impingement • Pediatric athletes with disabilities • Bone health evaluation

3rd Edition

Fully updated and revised, the third edition of this quick reference delivers targeted guidance on the diagnosis, treatment, and management of musculoskeletal problems and sports-related injuries. You’ll turn here often for concise summaries of disorders and injuries; proven evaluation, treatment, and rehabilitation approaches; practice-tested tips; and invaluable clinical pearls.

Pediatric Orthopaedics and Sports Injuries

and Sports Injuries

A Quick Reference Guide

Pediatric Orthopaedics

John F. Sarwark, MD, FAAP, FAAOS • Cynthia R. LaBella, MD, FAAP, FAMSSM

AAP

Pediatric Orthopaedics and Sports Injuries A Quick Reference Guide

3rd Edition

John F. Sarwark, MD, FAAP, FAAOS Cynthia R. LaBella, MD, FAAP, FAMSSM

American Academy of Pediatrics Publishing Staff Mary Lou White, Chief Product and Services Officer/SVP, Membership, Marketing, and Publishing Mark Grimes, Vice President, Publishing Chris Wiberg, Senior Editor, Professional/Clinical Publishing Theresa Wiener, Production Manager, Clinical and Professional Publications Mary Louise Carr, MBA, Marketing Manager, Clinical Publications Published by the American Academy of Pediatrics 345 Park Blvd Itasca, IL 60143 Telephone: 630/626-6000 Facsimile: 847/434-8000 www.aap.org The American Academy of Pediatrics is an organization of 67,000 primary care pediatricians, pediatric medical subspecialists, and pediatric surgical specialists dedicated to the health, safety, and well-being of all infants, children, adolescents, and young adults. The recommendations in this publication do not indicate an exclusive course of treatment or serve as a standard of medical care. Variations, taking into account individual circumstances, may be appropriate. Any websites, brand names, products, or manufacturers are mentioned for informational and identification purposes only and do not imply an endorsement by the American Academy of Pediatrics (AAP). The AAP is not responsible for the content of external resources. Information was current at the time of publication. The publishers have made every effort to trace the copyright holders for borrowed material. If they have inadvertently overlooked any, they will be pleased to make the necessary arrangements at the first opportunity. This publication has been developed by the American Academy of Pediatrics. The authors, editors, and contributors are expert authorities in the field of pediatrics. No commercial involvement of any kind has been solicited or accepted in the development of the content of this publication. Disclosures: Dr Andras disclosed a consultant/speaker relationship with Zimmer Biomet, Medtronic, and Nuvasive; and a stockholder relationship with Eli Lily. Dr Davids disclosed a consultant relationship with Orthopediatrics, Inc. Dr Fingarson disclosed an expert witness relationship with Illinois state courts. Dr Andrew Gregory disclosed a board of directors relationship with PRISM and an editor relationship with UpToDate. Dr James disclosed a deputy editor relationship with Journal of Bone and Joint Surgery. Dr Kocher disclosed a consultant relationship with Orthopediatrics, Ossur, Best Doctors, Smith & Nephew, Saunders/Mosby-Elsevier, and Wolters Kluwer Health/Lippincott Williams & Wilkins; a royalties relationship with Saunders/Mosby-Elsevier and Lippincott Williams & Wilkins; and an advisory board member relationship with PRISM. Dr Koutures disclosed an independent contractor relationship with SLACK Publishing and a consultant relationship with TeleAT Services. Dr Listernick disclosed a consultant relationship with AstraZeneca. Dr Peterson disclosed a royalties relationship with McGraw-Hill, a board of directors relationship with the American Medical Society for Sports Medicine, and a spouse/partner’s consultant relationship with Rhythm Pharmaceuticals. Dr Vitale disclosed a consultant relationship with Stryker Spine and Zimmer Biomet Spine. Dr Walter disclosed a consultant relationship with the National Football League and an advisory board relationship with Wisconsin Interscholastic Athletic Association. Dr Weiss Kelly disclosed an employee relationship with the National Football League. Every effort has been made to ensure that the drug selection and dosages set forth in this text are in accordance with the current recommendations and practice at the time of publication. It is the responsibility of the health care professional to check the package insert of each drug for any change in indications or dosage and for added warnings and precautions. Every effort is made to keep Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide consistent with the most recent advice and information available from the American Academy of Pediatrics. Please visit www.aap.org/errata for an up-to-date list of any applicable errata for this publication. Special discounts are available for bulk purchases of this publication. Email Special Sales at nationalaccounts@ aap.org for more information. © 2021 American Academy of Pediatrics All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means—electronic, mechanical, photocopying, recording, or otherwise—without prior written permission from the publisher (locate title at https://ebooks.aappublications.org and click on © Get permissions; you may also fax the permissions editor at 847/434-8780 or email [email protected]). First edition published 2010; second, 2014. Printed in the United States of America 9-460/0621      1 2 3 4 5 6 7 8 9 10 MA1018 ISBN: 978-1-61002-504-1 eBook: 978-1-61002-505-8 Cover and publication design by Peg Mulcahy Library of Congress Control Number: 2020944032

To the pediatricians, primary care professionals, medical/surgical specialists, residents and fellows in training, health care professionals in training, and research professionals who devote their careers to the well-being of our children

Contents EDITORS/CONTRIBUTORS������������������������������������������������������������������������������������� ix PREFACE����������������������������������������������������������������������������������������������������������������xv PART 1 GROWTH AND MOTOR DEVELOPMENT............................................. 1 Chapter 1 Typical Growth and Motor Development.................................................. 3 Chapter 2 Atypical Musculoskeletal Growth and Motor Development...................... 17 PART 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6

MUSCULOSKELETAL EVALUATION..................................................... 23 History.................................................................................................. 25 Physical Examination............................................................................. 33 Musculoskeletal Imaging Studies............................................................ 63 Laboratory Studies................................................................................. 75

PART 3 Chapter 7 Chapter 8 Chapter 9

MUSCULOSKELETAL INFECTIONS...................................................... 79 Osteomyelitis......................................................................................... 81 Septic Arthritis....................................................................................... 95 Miscellaneous Infections....................................................................... 101

PART 4 EVALUATING THE LIMPING CHILD................................................... 107 Chapter 10 The Limping Child: General Approach and Differential Diagnosis......... 109 PART 5 Chapter 11 Chapter 12 Chapter 13

SPINAL DEFORMITIES...................................................................... 119 Idiopathic Scoliosis and Congenital Scoliosis......................................... 121 Kyphosis.............................................................................................. 133 Spondylolysis and Spondylolisthesis...................................................... 141

PART 6 BACK PAIN........................................................................................ 151 Chapter 14 Back Pain: General Approach and Differential Diagnosis........................ 153 PART 7 Chapter 15 Chapter 16 Chapter 17

PEDIATRIC CERVICAL SPINE............................................................. 163 Pediatric Cervical Spine: Basic Radiographic Interpretation................... 165 Torticollis............................................................................................ 171 Atlantoaxial Rotatory Subluxation or Fixation....................................... 179

PART 8 Chapter 18 Chapter 19 Chapter 20 Chapter 21 Chapter 22

HIP DISORDERS................................................................................ 187 Developmental Dysplasia of the Hip..................................................... 189 Perthes Disease.................................................................................... 195 Slipped Capital Femoral Epiphysis........................................................ 199 Snapping Hip....................................................................................... 205 Femoroacetabular Impingement .......................................................... 211

vi Contents

PART 9 ROTATIONAL AND ANGULAR DEFORMITIES................................... 219 Chapter 23 Rotational and Angular Deformities: General Treatment Guidelines....... 221 Chapter 24 In-toeing.............................................................................................. 223 Chapter 25 Out-toeing........................................................................................... 229 Chapter 26 Angular Variations: Genu Varum (Bowleg) and Genu Valgum (Knock-Knee)...................................................................................... 231 PART 10 Chapter 27 Chapter 28 Chapter 29

UPPER EXTREMITY PROBLEMS........................................................ 235 Brachial Plexus Injuries........................................................................ 237 Nursemaid Elbow (Radial Head Subluxation)....................................... 249 Congenital Upper Limb Differences...................................................... 253

PART 11 Chapter 30 Chapter 31 Chapter 32 Chapter 33 Chapter 34 Chapter 35 Chapter 36 Chapter 37

PEDIATRIC SPORTS MEDICINE AND INJURIES................................. 271 Preparticipation Physical Evaluation..................................................... 273 Strains, Sprains, and Dislocations......................................................... 283 Traumatic Muscle Injuries.................................................................... 301 Overuse Injuries................................................................................... 311 Patellofemoral Disorders...................................................................... 343 Internal Derangement of the Knee (Knee Injury).................................. 355 Sports-Related Concussion................................................................... 375 Pediatric Athletes With Disabilities........................................................ 389

PART 12 Chapter 38 Chapter 39 Chapter 40 Chapter 41 Chapter 42 Chapter 43 Chapter 44 Chapter 45 Chapter 46 Chapter 47 Chapter 48 Chapter 49

COMMON FRACTURES AND PHYSEAL INJURIES............................ 405 Pediatric Trauma Overview................................................................... 407 Imaging Fractures................................................................................ 409 Fracture Types Overview...................................................................... 411 Stages of Fracture Healing.................................................................... 415 Physeal Fractures................................................................................. 419 Bone Health Evaluation in the Child Vulnerable to Fracture................... 425 Common Fractures of the Upper Extremities........................................ 433 Common Fractures of the Lower Extremities........................................ 451 Casting and Splinting........................................................................... 465 Occult Fractures (Injury Not Detected by Radiography)........................ 479 Compartment Syndrome...................................................................... 483 Nonaccidental Trauma......................................................................... 489

PART 13 Chapter 50 Chapter 51 Chapter 52 Chapter 53 Chapter 54 Chapter 55 Chapter 56

FOOT AND ANKLE........................................................................... 499 Foot and Ankle: General Considerations............................................... 501 Clubfoot.............................................................................................. 505 Flatfoot................................................................................................ 511 Metatarsus Adductus and Metatarsus Varus........................................... 515 Pes Cavus and Cavovarus..................................................................... 519 Calcaneal Valgus................................................................................... 523 Foot and Ankle: Miscellaneous Conditions............................................ 525

Contents vii

PART 14 Chapter 57 Chapter 58 Chapter 59

BENIGN AND MALIGNANT MUSCULOSKELETAL TUMORS............. 547 Evaluation of Benign and Malignant Musculoskeletal Tumors................ 549 Common Benign Tumors..................................................................... 555 Malignant Tumors................................................................................ 577

PART 15 LIMB-LENGTH DISCREPANCY........................................................... 589 Chapter 60 Limb-Length Discrepancy.................................................................... 591 PART 16 NEUROMUSCULAR DISORDERS, PART 1.......................................... 601 Chapter 61 Cerebral Palsy...................................................................................... 603 Chapter 62 Myelomeningocele (Spina Bifida)......................................................... 611 PART 17 Chapter 63 Chapter 64 Chapter 65 Chapter 66 Chapter 67

NEUROMUSCULAR DISORDERS, PART 2.......................................... 621 Neurodegenerative Disorders................................................................ 623 Hereditary Neuropathies: Charcot-Marie-Tooth Disease........................ 631 Spinal Muscular Atrophy...................................................................... 637 Friedreich Ataxia.................................................................................. 645 Arthrogryposis..................................................................................... 653

PART 18 GENETIC DISEASES AND SYNDROMES WITH MUSCULOSKELETAL MANIFESTATIONS........................................... 661 Chapter 68 Skeletal Dysplasias............................................................................... 663 Chapter 69 Metabolic Bone Diseases...................................................................... 675 Chapter 70 Neurofibromatosis 1............................................................................. 683 Chapter 71 Hemophilia.......................................................................................... 689 Chapter 72 Achondroplasia.................................................................................... 695 Chapter 73 Down Syndrome.................................................................................. 701 PART 19 Chapter 74 Chapter 75 Chapter 76

RHEUMATOLOGIC AND CONNECTIVE TISSUE DISEASES............... 707 Juvenile Idiopathic Arthritis.................................................................. 709 Autoimmune Connective Tissue Diseases.............................................. 723 Inherited Connective Tissue Diseases.................................................... 737

INDEX���������������������������������������������������������������������������������������������������������������� 747

Editors John F. Sarwark, MD, FAAP, FAAOS Professor of Orthopaedic Surgery Northwestern University Feinberg School of Medicine Martha Washington Professor of Orthopaedic Surgery Head, Orthopaedic Surgery Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Cynthia R. LaBella, MD, FAAP, FAMSSM Professor of Pediatrics Northwestern University Feinberg School of Medicine Medical Director, Institute for Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Contributing Authors Lindsay M. Andras, MD, FAAP

Jennette L. Boakes, MD

Associate Professor of Orthopaedic Surgery Children’s Orthopaedic Center Children’s Hospital Los Angeles Los Angeles, CA

Pediatric Orthopaedic Surgeon Shriners Hospitals for Children – Northern California Clinical Professor of Orthopaedic Surgery University of California, Davis School of Medicine California Northstate University College of Medicine Sacramento, CA

Arvind Balaji, MD, FAAP Fellow, Primary Care Sports Medicine Children’s Hospital of Philadelphia Philadelphia, PA

Holly J. Benjamin, MD, FAAP, FACSM Professor of Orthopaedic Surgery and Rehabilitation Medicine Professor of Pediatrics Director of Primary Care Sports Medicine University of Chicago Chicago, IL

David T. Bernhardt, MD, FAAP Professor Department of Pediatrics Department of Orthopedics and Rehabilitation Division of Sports Medicine University of Wisconsin School of Medicine and Public Health Madison, WI

Susannah M. Briskin, MD, FAAP Associate Professor of Pediatrics Division of Pediatric Sports Medicine Rainbow Babies & Children’s Hospital University Hospitals Cleveland Medical Center Cleveland, OH

Rebecca Carl, MD, MS, FAAP Institute for Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Assistant Professor of Pediatrics Northwestern University Feinberg School of Medicine Chicago, IL

x Editors/Contributors

Priya Chandan, MD, MPH

Mary E. Dubon, MD, FAAP

Assistant Professor of Physical Medicine & Rehabilitation University of Louisville Louisville, KY

Instructor, Physical Medicine and Rehabilitation Pediatric Rehabilitation Medicine Pediatric Sports Medicine Boston Children’s Hospital Spaulding Rehabilitation Hospital Harvard Medical School Boston, MA

Steven Cuff, MD, FAAP Associate Professor of Pediatrics Division of Sports Medicine Nationwide Children’s Hospital The Ohio State University College of Medicine Columbus, OH

Jon R. Davids, MD Assistant Chief of Orthopaedic Surgery Medical Director, Motion Analysis Laboratory Shriners Hospitals for Children – Northern California Ben Ali Chair in Pediatric Orthopaedics Department of Orthopaedic Surgery University of California, Davis School of Medicine Sacramento, CA

Kelsey Davidson, MD Pediatric Orthopaedic Surgeon Shriners Hospitals for Children – Chicago Chicago, IL

Deirdre De Ranieri, MD, RhMSUS Program Director, Division of Rheumatology Ann & Robert H. Lurie Children’s Hospital of Chicago Northwestern University Feinberg School of Medicine Chicago, IL

Rebecca A. Demorest, MD, FAAP Director of Pediatric & Young Adult Sports Medicine Webster Orthopedics San Ramon and Dublin, CA

Brett Dusenberry, MD, FAAP Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Amanda Fingarson, DO, FAAP Assistant Professor of Pediatrics Northwestern University Feinberg School of Medicine Division of Child Abuse Pediatrics Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Gaia Georgopoulos, MD, FAAOS Associate Professor of Orthopedic Surgery Division of Pediatric Orthopedics University of Colorado, Denver Denver, CO

Matthew Grady, MD, FAAP, CAQSM Program Director, Primary Care Sports Medicine Fellowship Associate Professor of Clinical Pediatrics University of Pennsylvania Perelman School of Medicine Division of Orthopaedics Children’s Hospital of Philadelphia Philadelphia, PA

Andrew Gregory, MD, FAAP, FACSM, FAMSSM Associate Professor, Orthopaedics, Neurosurgery, and Pediatrics Vanderbilt University Medical Center Nashville, TN

Editors/Contributors xi

Kelsey A. Gregory, MD, FAAP

Michelle A. James, MD, FAAP

Fellow, Child Abuse Pediatrics Ann & Robert H. Lurie Children’s Hospital of Chicago McGaw Medical Center of Northwestern University Chicago, IL

Chief of Orthopaedic Surgery Shriners Hospitals for Children – Northern California Professor of Clinical Orthopaedic Surgery University of California, Davis School of Medicine Sacramento, CA

Mark Halstead, MD, FAAP Associate Professor of Pediatrics and Orthopedics Washington University School of Medicine Director, St Louis Children’s Hospital Young Athlete Center St Louis, MO

Kerwyn Jones, MD

Thomas N. Harris, MD

Director, Center for Excellence in Hip Scottish Rite for Children Professor of Orthopaedics, University of Texas Southwestern Medical Center Dallas, TX

Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison, WI

William Hennrikus, MD, FAAP Professor and Associate Dean Penn State College of Medicine Hershey, PA

Brittany E. Homcha, MD Department of Orthopaedics and Rehabilitation Milton S. Hershey Medical Center Hershey, PA

Kenneth David Illingworth, MD Assistant Professor of Orthopaedic Surgery Keck School of Medicine University of Southern California Pediatric Orthopaedic Surgeon Children’s Hospital Los Angeles Los Angeles, CA

Henry J. Iwinski, MD, FAAP Chief of Staff Shriners Hospitals for Children Medical Center – Lexington Lexington, KY

Rajat Jain, MD Team Physician, Northwestern University Northwestern University Health Service Evanston, IL

Surgical Quality Officer Department of Orthopedics Akron Children’s Hospital Akron, OH

Harry K.W. Kim, MD, MS

Jennifer R. King, DO, FAAP, CAQSM Assistant Professor of Pediatrics John A. Burns School of Medicine, University of Hawai’i Section Chief, Pediatric Sports Medicine Kapi’olani Bone and Joint Center, Hawaii Pacific Health Kapi’olani Women and Children’s Medical Center Honolulu, HI

Mininder S. Kocher, MD, MPH Professor Department of Orthopaedic Surgery Harvard Medical School Chief, Division of Sports Medicine Orthopedic Center Boston Children’s Hospital Boston, MA

xii Editors/Contributors

Meghan C. Kostyk, APRN, MSN, CPNP, CCD

Joel A. Lerman, MD, FAAP

Advanced Practice Provider and Certified Clinical Densitometrist Division of Orthopaedic Surgery and Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Pediatric Orthopaedic Surgeon Shriners Hospitals for Children – Northern California Clinical Associate Professor, Department of Orthopedics University of California, Davis School of Medicine Sacramento, CA

Chris Koutures, MD, FAAP

Joseph Paul Letzelter III, MD

Pediatric and Sports Medicine Specialist ActiveKidMD Anaheim Hills, CA

Orthopaedic Surgeon Department of Orthopaedic Surgery and Sports Medicine Children’s National Medical Center Washington, DC

Michele LaBotz, MD, FAAP, CAQSM InterMed Sports Medicine Portland, ME Clinical Assistant Professor Department of Pediatrics Tufts University School of Medicine Boston, MA

Sonya Levine, BA Research Project Administrator Pediatric Orthopedics and Spine Columbia University New York, NY

Jill E. Larson, MD

Robert Listernick, MD

Assistant Professor Division of Pediatric Orthopaedic Surgery & Sports Medicine Northwestern University Feinberg School of Medicine Chicago, IL

Professor of Pediatrics Northwestern University Feinberg School of Medicine Co-Director, Neurofibromatosis Program Division of Advanced General Pediatrics & Primary Care Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Zoe Lasky, DNP, APRN, CPNP-PC Advanced Practice Registered Nurse Division of Orthopaedic Surgery and Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

David Lyons, DO Orthopaedic Surgeon MidMichigan Medical Center Midland, MI

Claire M.A. LeBlanc, MD, FAAP

Julie E. Martin, APRN, PNP-PC

Associate Professor of Pediatrics McGill University Montreal, QC Canada

Pediatric Nurse Practitioner Division of Orthopaedic Surgery and Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Megan M. May, MD Assistant Professor of Orthopedic Surgery Baylor College of Medicine Houston, TX

Editors/Contributors xiii

Jeffrey M. Mjaanes, MD, FAAP

Sonia Ruparell, MD

Director of Sports Medicine and Head Team Physician Northwestern University Health Service Evanston, IL

Pediatric Sports Medicine Fellow Department of Orthopedics & Sports Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Jose A. Morcuende, MD, PhD, FAAP Marvin and Rose Lee Pomerantz Chair in Orthopaedic Surgery Professor of Pediatrics Professor of Orthopedics and Rehabilitation Department of Orthopedics and Rehabilitation University of Iowa Iowa City, IA

Neeraj M. Patel, MD, MPH, MBS Attending Surgeon Ann & Robert H. Lurie Children’s Hospital of Chicago Assistant Professor of Orthopaedic Surgery Northwestern University Feinberg School of Medicine Chicago, IL

Andrew R. Peterson, MD, MSPH, FAAP, FAMSSM Professor of Pediatrics Stead Family Department of Pediatrics Carver College of Medicine Head Team Physician University of Iowa Iowa City, IA

Vince W. Prusick, MD Assistant Professor of Orthopaedic Surgery University of Kentucky Pediatric Orthopaedic Surgeon Shriners Hospitals for Children Medical Center – Lexington Lexington, KY

Vanna J. Rocchi, DO Lieutenant Commander, Medical Corps, US Navy Pediatric Orthopaedic Surgeon Naval Medical Center Portsmouth Portsmouth, VA

Brian A. Shaw, MD, FAAP, FAAOS Associate Professor of Orthopedic Surgery University of Colorado School of Medicine Children’s Hospital Colorado Colorado Springs, CO

Eric D. Shirley, MD Pediatric Orthopaedic Surgeon Naval Medical Center Portsmouth Portsmouth, VA

Mariah N. Sisson, MD Pediatric Resident Department of Pediatrics University of Iowa Stead Family Children’s Hospital Iowa City, IA

Peter A. Smith, MD Pediatric Orthopaedic Surgeon Shriners Hospital for Children Professor Department of Orthopaedic Surgery Rush University Medical Center Chicago, IL

Mary Solomon, DO Associate Professor of Pediatrics Division of Pediatric Sports Medicine University Hospitals Rainbow Babies & Children’s Hospital Cleveland, OH

Daniel J. Sucato, MD, MS Chief of Staff Texas Scottish Rite Hospital for Children Professor Department of Orthopaedic Surgery University of Texas Southwestern Medical School Dallas, TX

xiv Editors/Contributors

Vineeta T. Swaroop, MD

Kevin D. Walter, MD, FAAP

Associate Professor of Orthopaedic Surgery Northwestern University Feinberg School of Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Associate Professor of Orthopaedic Surgery & Pediatrics Medical College of Wisconsin Director of Sports Medicine, Children’s Wisconsin Milwaukee, WI

Jarrod Tembreull, MD

Joshua Wathen, MD, FAAP

Sports Medicine Fellow Maine-Dartmouth Sports Medicine Fellowship Augusta, ME

Pediatric Sports Medicine Fellow Baylor College of Medicine Texas Children’s Hospital Houston, TX

Jeffrey D. Thomson, MD

Amanda Weiss Kelly, MD, FAAP

Director of Orthopedic Surgery Connecticut Children’s Medical Center Hartford, CT Professor of Orthopedic Surgery University of Connecticut Farmington, CT

Division Chief, Pediatric Sports Medicine Professor of Pediatrics University Hospitals Case Medical Center Case Western Reserve University Cleveland, OH

Michael Vitale, MD

Assistant Professor of Pediatrics Division of Pediatric Sports Medicine Northwestern University Feinberg School of Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, IL

Director of Pediatric Orthopaedics Columbia University Medical Center New York, NY

Kelly Waicus, MD, CAQSM Team Physician University of North Carolina Sports Medicine Chapel Hill, NC

Sigrid F. Wolf, MD, FAAP, CAQ

American Academy of Pediatrics Reviewers Council on Child Abuse and Neglect Council on Genetics Council on Sports Medicine and Fitness

Section on Neurology Section on Orthopaedics Section on Rheumatology

The AAP is committed to principles of equity, diversity, and inclusion in its publishing program. Editorial boards, author selections, and author transitions (publication succession plans) are designed to include diverse voices that reflect society as a whole. Editor and author teams are encouraged to actively seek out diverse authors and reviewers at all stages of the editorial process. Publishing staff are committed to promoting equity, diversity, and inclusion in all aspects of publication writing, review, and production.

Preface The purpose of this book is to provide primary care physicians, pediatricians, orthopaedic surgeons, residents, medical students, and health care professionals with a brief and complete discussion of orthopaedic problems and common sports injuries in children and adolescents. The book can serve as a quick reference guide for health care professionals who evaluate and manage musculoskeletal and sportsrelated concerns in the pediatric population. The book offers an overview approach and includes differential diagnosis and workup of patients with musculoskeletal concerns, injuries, or related conditions. A limited number of specific references and a few key resources are included for further in-depth reading. Cross-referencing is extensively provided to avoid repetition and redundancy. We have presented the material in a simple and practical manner. For this fully updated and revised third edition, three new chapters have been added. The new topic areas focus on bone health, femoroacetabular impingement, and pediatric athletes with disabilities, all of which we feel broaden the scope and utility of the book. We hope these additions will prove valuable to the reader. We thank the contributors for their authoritative contributions to this guide. We greatly appreciate the outstanding editorial assistance of Chris Wiberg, senior editor, and to the publishing staff of the American Academy of Pediatrics for their help and support. We hope that our readers—everywhere—will find this book highly useful. John F. Sarwark, MD, FAAP, FAAOS Cynthia R. LaBella, MD, FAAP, FAMSSM

NOTE: In the interest of brevity, the term “parent” is used in this book to refer to a parent or other legal guardian.

Part 1: Growth and Motor Development TOPICS COVERED 1. Typical Growth and Motor Development.........................................3 Somatic Growth Typical Motor Development Sex Differences in Motor Development Sports Readiness 2. Atypical Musculoskeletal Growth and Motor Development.............. 17 Atypical Musculoskeletal Growth Atypical Motor Development



1

CHAPTER 1

Typical Growth and Motor Development •• Typical growth and maturation of a child’s musculoskeletal system and

development of motor skills are determined by numerous factors, including genetics, nutrition, hormones, illness, physical activity, social conditions, race, culture, and geographic location. •• This chapter describes typical growth and maturation of the pediatric musculoskeletal system; typical patterns of motor skill development; and methods of evaluating growth, maturation, and development and identifying anomalies and concerns.

Somatic Growth

•• Somatic growth refers to the increase in weight, height, and organ size. ——Assess somatic growth by comparing a child’s height and weight to a

population of other children at the same chronological age (CA). For children younger than 24 months, use growth charts developed by the World Health Organization (WHO). From 2 years to 20 years, growth can be assessed using Centers for Disease Control and Prevention (CDC) growth charts. ——These charts include the range of height, weight, head circumference, and body mass index (BMI) obtained from different populations of children. ——WHO growth charts use data from an international cohort of breastfed children obtained in the first 2 years after birth. ——CDC growth charts include data from a sample of children in the United States aged birth to 20 years. ——While frequently used as a marker of health and nutritional status, somatic growth is not a reliable indicator of biological maturity. There is significant individual variation in the timing (when the growth spurt occurs) and tempo (rate or speed at which growth spurt occurs) of growth. •• Growth rate varies with age: it is greatest from birth to 2 years, declines during childhood, and briefly increases again during the adolescent growth spurt (Table 1-1, Figure 1-1). •• During the prepubertal stage between 6 and 12 years of age, growth averages 3 to 3.5 kg and 6 cm per year, with minimal difference between boys and girls (­Figure 1-1). 3

4

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Table 1-1. Rates of Growth in Weight and Height by Age Daily Weight Gain (g)

Age

Monthly Weight Gain

Growth in Length (cm/mo)

0–3 mo

30

2 lb

3.5

3–6 mo

20

1.25 lb

2.0

6–9 mo

15

1 lb

1.5

9–12 mo

12

13 oz

1.2

1–3 y

8

8 oz (0.5 lb)

1.0

4–6 y

6

6 oz

3 cm/y

Adapted from Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: WB Saunders Co; 2004:35, with permission from Elsevier.

2 to 20 years: Girls Stature-for-age and Weight-for-age percentiles Mother’s Stature Date

Father’s Stature Age

Weight

Stature

BMI*

RECORD #

12 13 14 15 16 17 18 19 20 cm AGE (YEARS) 190 185 180 95 90 75

in 62 60 58 56 S T A T U R E

54 52 50 48 46 44 42 40 38

cm

3

4

5

6

7

8

9

10 11

160

10 5

150

lb

S T A T U R E

64 62 60

95 210 90 200

125 120

95

115 110

90

85 80 75 70

105 100

75

95

80

30

150

66

100 220

32

40

155

68

130

85

50

160

70

105 230

34

60

165

72

135

90

70

170

74

140

36

80

175

in 76

145

50 25 10 5

30

W E I G H T

50 25

155

Figure 1-1. Stature for age and weight for age for girls (A) and boys (B).

NAME

45 100 40 90 30

25

25

20

20

15

15

10 kg

10 kg 10 11 12 13 14 15 16 17 18 19 20

3

4

5

6

7

8

9

160

50 110

35

2

170

55 120

30

Published May 30, 2000 (modified 11/21/00). SOURCE: Developed by the National Center for Health Statistics in collaboration with the National Center for Chronic Disease Prevention and Health Promotion (2000). http://www.cdc.gov/growthcharts

180

150 W 65 140 E I 60 130 G

35

AGE (YEARS)

190

80 70 60 50 40 30 lb

H T



5

Chapter 1: Typical Growth and Motor Development

2 to 20 years: Boys Stature-for-age and Weight-for-age percentiles Mother’s Stature Date

Father’s Stature Age

Weight

Stature

BMI*

NAME RECORD #

12 13 14 15 16 17 18 19 20 cm AGE (YEARS) 95 90 75 50 25

in 62 S T A T U R E

60 58 56 54 52 50 48 46 44 42 40 38

cm

3

4

5

6

7

8

9

10 11

185 180 175 170 165

160

160

155

155

150

150

in 76 74 72 70 68 66 64 62 60

105 230 100 220

135 130

95

125

90

120 115

75

95 210 90 200 85 80 75

110 105

50

100

25

95

10 5

70

190 180 170 160

150 W 65 140 E I 60 130 G

36

90

34

85

50 110

32

80

45 100 40 90

35

35

30

30

25

25

20

20

15

15

80 70 60 50 40 30 lb

S T A T U R E

145 140

30

W E I G H T

10 5

190

Figure 1-1. Stature for age and weight for age for girls (A) and boys (B), continued.

10 kg

10 kg 10 11 12 13 14 15 16 17 18 19 20

AGE (YEARS) 2

3

4

5

6

7

8

9

55 120

H T

80 70 60 50 40 30 lb

Published May 30, 2000 (modified 11/21/00). SOURCE: Developed b y the National Center for Health Statistics in collaboration with the National Center for Chronic Disease Prevention and Health Promotion(2000). http://www.cdc.gov/growthcharts

ADOLESCENT GROWTH SPURT

•• The adolescent growth spurt begins at about 9 to 10 years of age for girls and 11 to 12 years of age for boys. ——Boys experience a growth spurt about 2 years after the onset of puberty, heralded by the onset of gonadal enlargement. ——Girls experience a growth spurt as soon as 6 months after the appearance of breast buds. ——The growth spurt starts peripherally with enlargement of the hands and feet, then progresses centrally to the arms and legs, and lastly the trunk. ——The peak growth rate occurs earlier for trunk length and later for leg length compared with stature; thus, the late childhood growth spurt is characterized by rapid trunk growth and the early adolescent growth spurt is characterized by rapid growth of the legs.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

HEIGHT

•• The rate of height growth accelerates until it reaches a maximum, termed the peak height velocity (PHV), which occurs about 2 years after the start of the adolescent growth spurt. •• The growth spurt lasts anywhere from 24 to 36 months (Figure 1-2). •• Standard deviations of age at PHV range from 0.7 to 1.2 years, indicating significant individual variation in the timing of the growth spurt. •• Age at PHV is a reliable indicator of somatic maturity in boys and girls. •• Boys reach PHV at an average age of 14 years at a rate of 10.3 cm (4.3") per year and then decelerate to a stop by age 18 years. •• Girls reach PHV at an average age of 12 years at a rate of 9 cm (3.8") per year and stop growing approximately 2 years earlier than boys (usually by age 16 years). •• The onset of menses generally follows PHV by 1 year and is associated with a rapid deceleration in growth and limited additional gains in stature (Figure 1-2). •• PHV and magnitude of height gained is 3 to 5 cm greater in boys than in girls. •• Girls achieve a final mean adult height of 163.8 cm compared with 176.8 cm for boys, for an average adult height difference of 13 cm between men and women. This difference in final adult stature is because of the smaller PHV and the earlier termination of growth in girls compared with boys. •• Pubertal growth accounts for almost 25% of final adult height. •• The genetic contribution to final adult height is approximately 60%.

Figure 1-2. Summary of pubertal development in girls (A) and boys (B). Menarche generally occurs shortly after peak height velocity is attained. From Rosen DS. Physiologic growth and development during adolescence. Pediatr Rev. 2004;25(6):194–200.



7

Chapter 1: Typical Growth and Motor Development

•• There is a trend for youth who attain PHV at an earlier age to be slightly taller at

that age, but ultimately there seems to be no relationship between age at PHV and final adult stature. •• Children who mature earlier generally have a higher PHV than those who mature late, and late maturers on average are taller when the growth spurt begins; consequently, the mean adult height of early and late maturers is usually the same. •• Height differences among boys with differences in age of pubertal onset will generally disappear by late adolescence. •• Similarly, children with constitutional growth delay will “catch up” with their peers by late adolescence. ESTIMATING ADULT HEIGHT

•• Mid-parental height is a frequently used method to estimate a child’s genetic

height potential based on the child’s sex and the biological parents’ height, with a standard deviation of approximately 2 inches. ——Mid-parental height for boys = paternal height + maternal height + 5 (inches)/2 ——Mid-parental height for girls = paternal height + maternal height − 5 (inches)/2 •• Multiplier method ——Height at given CA (cm) × multiplier = adult height (Table 1-2, Table 1-3)

Table 1-2. Height Multiplier Table for Boys AGE (Y + MO) Birth

M

AGE (Y + MO)

M

3.535

8+6

1.351

0+3

2.908

9+0

1.322

0+6

2.639

9+6

1.298

0+9

2.462

10 + 0

1.278

1+0

2.337

10 + 6

1.260

1+3

2.239

11 + 0

1.235

1+6

2.160

11 + 6

1.210

1+9

2.088

12 + 0

1.186

2+0

2.045

12 + 6

1.161

2+6

1.942

13 + 0

1.135

3+0

1.859

13 + 6

1.106

3+6

1.783

14 + 0

1.081

4+0

1.731

14 + 6

1.056

4+6

1.675

15 + 0

1.044

5+0

1.627

15 + 6

1.030

5+6

1.579

16 + 0

1.021

6+0

1.535

16 + 6

1.014

6+6

1.492

17 + 0

1.010

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Table 1-2. Height Multiplier Table for Boys, continued AGE (Y + MO)

M

AGE (Y + MO)

M

7+0

1.455

17 + 6

1.006

7+6

1.416

18 + 0

1.005

8+0

1.383

Mature Heights = Ht x M

Abbreviation: M, multiplier. From Paley J, Talor J, Levin A, Bhave A, Paley D, Herzenberg JE. The multiplier method for prediction of adult height. J Pediatr Orthop. 2004;24:732–737 (https://journals.lww.com/pedorthopaedics/Abstract/2004/11000/ The_Multiplier_Method_for_Prediction_of_Adult.25.aspx). Reprinted with permission from Wolters Kluwer and the Pediatric Orthopaedic Society of North America.

Table 1-3. Height Multiplier Table for Girls AGE (Y + MO)

M

AGE (Y + MO)

M

Birth

3.290

8+6

1.254

0+3

2.759

9+0

1.229

0+6

2.505

9+6

1.207

0+9

2.341

10 + 0

1.183

1+0

2.216

10 + 6

1.160

1+3

2.120

11 + 0

1.135

1+6

2.038

11 + 6

1.108

1+9

1.965

12 + 0

1.082

2+0

1.917

12 + 6

1.059

2+6

1.815

13 + 0

1.040

3+0

1.735

13 + 6

1.027

3+6

1.677

14 + 0

1.019

4+0

1.622

14 + 6

1.013

4+6

1.570

15 + 0

1.008

5+0

1.514

15 + 6

1.009

5+6

1.467

16 + 0

1.004

6+0

1.421

16 + 6

1.004

6+6

1.381

17 + 0

1.002

7+0

1.341

17 + 6

—

7+6

1.309

18 + 0

—

8+0

1.279

Mature Heights = Ht x M

Abbreviation: M, multiplier. From Paley J, Talor J, Levin A, Bhave A, Paley D, Herzenberg JE. The multiplier method for prediction of adult height. J Pediatr Orthop. 2004;24:732–737 (https://journals.lww.com/pedorthopaedics/Abstract/2004/11000/ The_Multiplier_Method_for_Prediction_of_Adult.25.aspx). Reprinted with permission from Wolters Kluwer and the Pediatric Orthopaedic Society of North America.



Chapter 1: Typical Growth and Motor Development

9

WEIGHT

•• On average, peak weight velocity (PWV) is greater in boys than in girls. PWV

coincides with PHV in boys but occurs about 6 to 9 months after PHV in girls.

•• Girls reach PWV at age 13 years at a rate of 8.5 kg per year followed by a decrease to less than 1 kg per year by 15 years. ——Pubertal weight gain in girls is caused primarily by ongoing increase in fat mass (FM) rather than an increase in skeletal and muscle mass. •• Boys reach PWV at age 14 years at a rate of 9.5 kg per year followed by a decrease to less than 1 kg per year by 17 years. ——Pubertal weight gain in boys primarily is caused by increases in height (skeletal mass) and muscle mass with a stable FM. •• Weight gains during puberty account for approximately 40% to 50% of ideal adult weight in both sexes. BONE GROWTH

•• Primary ossification centers are the first areas of a bone to ossify and are found in

the shaft of long bones and the center or body of irregular bones. For most bones, the ossification process begins during prenatal development. •• Secondary ossification centers appear later, developing during infancy and early childhood, and fuse with primary ossification centers during late childhood, adolescence, and early adult life. •• The cartilage between the primary and secondary ossification centers of long bones becomes the physis, or growth plate. ——The growth plate is responsible for longitudinal growth and is subject to pressure or axial forces. ——Long bones of the upper and lower extremities (femur, tibia, fibula, humerus, radius, ulna) grow in length through the process of endochondral ossification, the proliferation of cartilage cells in the epiphyseal plate, which then ossify to bone. •• All the bones in the body form through endochondral ossification except for the flat bones of the skull, mandible, and clavicles, which undergo intramembranous ossification. •• At the ends of each long bone, the epiphysis is covered by articular cartilage and forms the joint surface. ——Typical development of joints requires a functioning neuromuscular system to allow normal motion. •• Ring epiphyses surround the periphery of round bones, such as the tarsal bones and vertebrae, which grow circumferentially. •• Apophyses are growth plates at the surface of bones such as the iliac crest. ——Most apophyses serve as sites of muscle-tendon attachments, such as the tibial tubercle or ischial tuberosity, and thus are subject to traction forces. ——Apophyses contribute to adult bone shape and may look like a bony outgrowth or bump. •• Ossification begins first in the scapula, humerus, radius, and ulna, and then additional ossification centers develop in a predictable order. ——Humeral head appears at age 0–2 months in girls, 0–3 months in boys.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

——Capitellum appears at age 1–6 months in girls, 0–8 months in boys. ——Radial head appears at age 3–5 years in girls, 4–5 years in boys. ——Femoral head appears at age 1–6 months in girls, 2–8 months in boys. ——Patella appears at age 1.5–3.5 years in girls, 2.5–6 years in boys. ——Navicular appears at age 1.5–3 years in girls, 1.5–5.5 years in boys.

•• On average, ossification centers develop earlier in girls than in boys. •• Long and short tubular bones are mature when the diaphyses and the epiphyses fuse.

•• Round or irregularly shaped bones are mature when they achieve final adult shape.

•• During the fetal period, the metaphyses are composed of woven bone that has

scattered collagen fibers, giving it the flexibility needed for birth. By 4 years of age, most woven bone has been converted to lamellar bone, which has collagen fibers arranged in parallel to form tight sheets, making it much stronger than woven bone. •• Cortical bone thickness increases throughout childhood, resulting in increased diaphyseal thickness with age. Conversion to lamellar bone gives mature bone greater tensile strength but much less flexibility. •• The peak velocity of bone mineral accumulation lags behind PHV by an average of 1 year. •• Greater than 90% of peak skeletal bone mass is present by age 18 years. •• The rate of bone growth is precisely regulated, and each growth center contributes a specific percentage of final bone length (eg, 80% of the length of the humerus comes from its proximal physis and only 20% from its distal physis). •• The trunk grows most rapidly during childhood. •• Growth occurs earlier in the upper limbs than in the lower limbs, which grow the fastest during adolescence. •• The foot grows earlier than the rest of the lower limb and achieves its adult length earlier than the rest of the body; half of the adult foot length is achieved between 12 and 18 months of age. •• A child’s level of habitual physical activity does not affect the rate of skeletal maturation and has no effect on final adult body stature. GROWING PAINS

•• Growing pains are defined as limb pains that cannot be traced to trauma or

disorders of bone, muscle, or joints, and are common in the pediatric age group, with a prevalence of 4% to 36%. •• They most commonly occur from 3 to 5 years of age and from 8 to 12 years of age and occur more often in girls than boys. •• Pain is usually in the lower extremities and occurs at rest or during the night and not with physical activity. •• Affected children have typical physical examination findings and no evidence of other systemic disease. •• The etiology is unknown; growing pains are benign and self-limited, with no effect on growth velocity.



Chapter 1: Typical Growth and Motor Development

11

ASSESSING SKELETAL MATURITY

•• Level of ossification, or skeletal maturation, is the best indicator of biological maturity.

•• Progression from a cartilaginous skeleton to a fully ossified adult skeleton is radiographically visible.

•• Assessment of skeletal age (SA), or bone age, is based on bone development. •• A single radiograph of the left hand is most commonly used to assess skeletal

maturity. ——The bones are compared with those in a standard radiographic atlas, either Greulich-Pyle or Tanner-Whitehouse, using a defined set of criteria. ——The SAs derived from the different atlases are not equivalent and cannot be used interchangeably. ——An important limitation of these atlases is that they are based on data from Scandinavian children and may not exactly apply to other populations. •• SA may be compared to CA, expressed as a difference between SA and CA or as a ratio of SA to CA. ——For example, a child with an SA of 11.8 years and a CA of 10.1 years is said to have advanced skeletal maturity for CA. SA minus CA yields a difference of +1.7 years, and SA divided by CA yields 1.2. A ratio above 1.0 indicates advanced skeletal maturity; conversely, a ratio below 1.0 indicates delayed skeletal maturity. •• Children may be classified as having an SA that is advanced, average, or delayed. ——Children whose SA is within 1 year of CA are classified as average maturers. ——Children whose SA is 1 year or more behind CA are classified as delayed or late maturers. ——Children whose SA is 1 year or more ahead of CA are classified as advanced or early maturers. Early maturers tend to be heavier and taller compared with late maturers at all ages, but final adult height typically is similar. •• SA is better correlated with stage of pubertal development than with CA and can be useful in predicting adult height in early or late maturers. •• Height, weight, and stages of pubertal development have become the main clinical tools for monitoring adolescent development because of the cost, inconvenience, and radiation exposure associated with using radiography to assess SA. CHANGES IN BODY COMPOSITION

•• Body composition is most often described as a two-compartment model, a combination of lean or fat-free mass (FFM) and FM.

•• The primary components of FFM are bone, skeletal muscle, and nonskeletal muscle soft tissue; the primary component of FM is adipose or fat tissue.

•• Subcutaneous “baby fat” develops during the first year after birth and gradually is burned up by increased mobility in early childhood.

•• FM and FFM gradually increase as body size increases between 2 and 6 years

of age, but on average FM decreases more in boys than in girls due to increased energy expenditure and decreased caloric intake in boys. •• Body physique remains relatively stable from 6 to 12 years of age, and FFM on average is 80% in a prepubertal child.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• BMI is weight divided by height squared (kg/m2) and is related to FFM in

children and adolescents. ——BMI increases in infancy, decreases through early childhood to a low point around 5 or 6 years of age, then rises again through the rest of childhood and adolescence. ——Children with the same BMI can have significantly different percentages of fat and FFM, and therefore elevated BMI is not uniformly a good indicator of body fat percentage in childhood and adolescence. •• FFM undergoes a well-defined spurt during adolescence (Figure 1-3). •• Throughout adolescence, lean or fat-free body mass increases from 80% to 90% in boys but decreases from 80% to 75% in girls as they accumulate more subcutaneous fat. •• During the interval of PHV, boys gain approximately twice as much FFM as girls (14 kg vs 7 kg), while girls gain twice as much FM as boys (3 kg vs 1.5 kg). •• Women have almost twice the percentage of body fat as men. •• Girls continue to gain FM but not FFM into late adolescence (16–20 years of age). ——Girls enter puberty with 15.7% average body fat, and as adults average 26.7%. ——Boys enter puberty with 4.3% average body fat, and as adults average 11.2%. •• Adult men have 150% of the FFM of an average adult woman. •• Young women have more subcutaneous fat deposits in the pelvis, breast, upper back, and arms compared with young men. •• The effect of heredity on body mass and composition is about 40%. •• Children who have higher body fat percentage after 6 years of age are at increased risk of retaining fat through childhood and into adulthood.

Changes in Body Composition from Late Childhood to Young Adulthood kg 65 60 55 50 45 40 35 30 25 20 15 10 5 0 % 30 25 20 15 10

Figure 1-3. Growth curves for fat-free mass, fat mass, and percent fat. From Malina RM, Bouchard C, Beunen G. Human growth: selected aspects of current research on well-nourished children. Ann Rev Anthropol. 1988;17:187–219. Reprinted by permission of Annual Reviews, Inc.

Fat-free mass

Boys Girls Fat mass

Percent fat

8 9 10 11 12 13 14 15 16 17 18 19 20 Age, years



Chapter 1: Typical Growth and Motor Development

13

CHANGES IN MUSCLE MASS AND STRENGTH

•• The percentage of muscle, or muscle mass, increases with age. •• During middle childhood, muscle strength, coordination, and endurance increase through maturation and training.

•• Small sex differences in muscle strength begin to appear in middle to late childhood. •• The greatest gains in muscular mass and strength occur during adolescence in both boys and girls, with boys showing overall greater gains in both.

•• The muscular strength gains in early adulthood occur at a much slower rate than in puberty.

•• In boys, muscle strength increases linearly with age from early childhood through age 13 or 14 years and then experiences a marked acceleration through late adolescence into early or mid-20s. •• In girls, muscle strength also increases linearly through age 15 years but without an adolescent spurt. •• For boys, this increase in muscle is a dominant change during puberty. The increase in strength is more than that predicted from growth in stature. •• On average, the peak gains in muscular strength and power occur after PHV and around PWV. The peak increase in muscle strength lags behind the increase in mass, occurring in the final stage of pubertal development. •• Increase in muscle mass peaks around 3 months after height spurt in boys and girls, and the increase in mass is double that in boys compared with girls. •• The sex difference in strength is more marked in the upper extremity and trunk than in the lower extremity. •• Boys who are early maturers tend to be taller and have greater muscle mass and greater strength than boys who are late maturers. •• Girls who mature early tend to only have a minimal increase in strength. FLEXIBILITY AND JOINT MOBILITY

•• Joint hypermobility, or ligamentous laxity, is defined as the ability to extend a joint beyond its normal range of motion.

•• The most commonly used method to screen for generalized joint hypermobility is the Beighton score (see Chapter 4, Physical Examination, Figure 4-2).

•• During ages 6 to 12 years, muscle flexibility and joint mobility may be increased. The prevalence of joint hypermobility is highest in school-aged children, approximately 5% to 7%. •• During puberty there is increased tightness of the hamstrings and calf muscles, which is greatest during the height spurt for boys and girls. •• In general, girls show greater muscle flexibility and joint mobility at all ages compared with boys. EXERCISE CAPACITY

•• In middle childhood, aerobic and anaerobic exercise capacity increase slowly and are limited compared with adolescence.

•• When maximum aerobic capacity is expressed relative to body weight, mean

values remain constant for boys but decrease with age for girls from 6 to 16 years of age because of greater accumulation of fat.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• Increases in maximum aerobic capacity are strongly related to physical maturity, specifically heart, lung, and muscular growth.

•• For boys, there is evidence of an adolescent growth spurt in maximum aerobic

capacity, with maximum gain around PHV. There is no evidence for this in girls.

•• Anaerobic capacity increases more gradually than aerobic capacity, and aerobic

capacity continues to increase into early adulthood but at a slower rate than in puberty.

Typical Motor Development

•• Average age for acquisition of motor skills in the first years after birth is shown in Table 1-4.

Table 1-4. Acquisition of Motor Skills in First 5 Years After Birth Milestone

Average Age of Attainment (mo)

Gross Motor Head steady in sitting

2

Pull to sit, no head lag

4

Hands together in midline

4

Rolls back to stomach

7

Sits without support

10

Crawls

10

Walks alone

15

Crawls up stairs

15

Sits on small chair

18

Runs well

24

Goes up stairs alternating feet

30

Rides tricycle

36

Climbs well

48

Skips

60

Fine Motor Reaches for and grasps objects

4

Transfers object hand to hand

7

Grasps object with thumb and forefinger

10

Turns pages of book

12

Builds tower of 3 cubes

15

Imitates vertical stroke

18

Circular scribbling

24

Makes vertical and horizontal strokes

30

Copies a circle

36

Copies a square

48

Copies a triangle

60



Chapter 1: Typical Growth and Motor Development

15

•• Many variables regulate fundamental and complex motor skill development,

including somatic growth and maturation, heredity or inherent skill, and environmental factors such as socioeconomic status, quality of instruction, child and parent interest, and opportunities to engage in physical activity. •• Children achieve or improve their motor skills with age in a similar sequence but at different rates, resulting in wide variability in motor skills at specific ages. •• Fundamental motor skills are common motor activities with specific, observable patterns that are prerequisites for acquiring more complicated skills necessary for sports, games, and other physical activities. •• These fundamental motor skills can be divided into 3 basic categories: ——Locomotive skills (walking, running, jumping, hopping) ——Manipulative skills (kicking, throwing, catching, striking, bouncing, pulling, pushing) ——Non-manipulative skills (turning, balancing, leaping, sliding) •• Beyond the basic skills of walking and running, children exhibit a wide range of ability with more advanced activities such as throwing, catching, and kicking. •• Adeptness in motor skills is incremental and related to body size, maturity, agility, and balance. •• The prepubertal period from infancy through 9 years of age is critically important for the acquisition and development of motor skills in a growing child. •• Handedness is usually established firmly by age 3 or 4 years. •• Early handedness can be a sign of a neuromuscular disorder. •• By 5 to 7 years of age, most children demonstrate mature fundamental movement patterns, which are coordinated and mechanically efficient. •• Children younger than 7 to 8 years cannot perform complex tasks requiring much coordination, but by 11 to 12 years of age, children can perform high-level motor skills, including faster and more precise performance of complicated tasks and foot skills. •• Puberty is the final critical period for motor skill development. GAIT

•• Early gait typically begins to develop between 8 and 16 months and is

characterized by a fast cadence with short steps and a wide-based gait, with the knees and arms flexed and the trunk rotating with each stride. •• After several months of walking, toddlers walk more slowly with a longer stride, a more stable torso, extended knees, and arms swinging at the side for balance. •• By 3 or 4 years of age, most children walk with adult gait patterns, although continued changes in gait velocity, stride length, and cadence occur into adulthood.

Sex Differences in Motor Development

•• Girls generally perform better than boys in fine motor tasks, while boys perform

better than girls in gross motor tasks. These differences in motor ability increase with age and are primarily explained by specific gender-oriented types of sports and activities, encouragement, opportunity, and expectations.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Table 1-5. Average Age at Which Highest Developmental Level of Fundamental Motor Skills Is Achieved in Boys and Girls Motor Skill Running

Boys (y)

Motor skill

Girls (y)

4

Running

5

Throwing

5

Skipping

6

Skipping

6.5

Catching

6.5

Catching

7

Hopping

7

Kicking

7

Kicking

8

Striking

7

Striking

8.5

Hopping

7.5

Throwing

8.5

Jumping

9.5

Jumping

10

Data are derived from Seefeldt V, Haubenstricker J. Patterns, phases, and stages: an analytical model for the study of developmental movement. In: Kelso JAS, Clark JE, eds. The Development of Movement Control and Coordination. New York, NY: John Wiley & Sons; 1982.

•• Certain fundamental motor skills (skip, catch, hop) initially appear in girls ahead

of boys, but the most mature developmental stages of other skills (run, throw, kick, strike, jump) are attained sooner in boys than in girls (Table 1-5). •• Motor performance levels in girls are relatively stable across time, but boys may experience a temporary disruption of motor coordination during their growth spurt, termed adolescent awkwardness. •• Sex differences in motor performance are relatively low or moderate before puberty but quite large after puberty. •• While environmental influences primarily account for the sex differences in motor performance prior to puberty, both environmental and biological factors account for the rapid and large increases after puberty.

Sports Readiness

•• Children acquire motor skills in similar sequence but at different rates, so sport readiness must be assessed individually.

•• Many children younger than 7 years cannot perform the complex motor tasks necessary for competitive sports.

Resources for Physicians

•• WHO Growth Charts (https://www.cdc.gov/growthcharts/who_charts.htm) •• CDC Growth Charts (https://www.cdc.gov/growthcharts/cdc_charts.htm)

CHAPTER 2

Atypical Musculoskeletal Growth and Motor Development Atypical Musculoskeletal Growth

•• Constitutional growth delay: Weight and height decrease toward the end of infancy,

remain below family pattern but with stable growth velocity during middle childhood, and then increase toward the end of adolescence, resulting in normal adult stature. Bone ages are typically delayed, and there is often a family history of delayed growth (“late bloomer”). •• Familial short stature: The child and parents are small, and the child’s growth remains below but parallels the normal curves. ——There is a risk of overdiagnosing or underdiagnosing atypical growth findings in children with extremely tall or short parents if parental height is not taken into account. Midparental height can be used to estimate genetic potential for height. •• When examining growth, most children and adolescents track between one or 2 growth percentiles. Deviation from this warrants additional consideration and possible evaluation. •• Appropriate nutrition is the critical environmental factor that supports normal biological maturation; adequate food intake supports normal weight gain and linear growth. NUTRITIONAL CAUSES

•• Failure to thrive: Exact definition varies, but generally considered to be weight

less than the fifth percentile or weight percentile that declines more than 2 major percentile lines (eg, declines from the 80th percentile to the 40th percentile). •• Undernutrition: Weight for age typically declines (wasting) before height for age (stunting) and weight for height (or body mass index). ——Undernutrition is often associated with delay in skeletal maturity relative to chronological age and delay in attainment of peak height velocity and pubertal development. •• Obesity and overweight are often associated with advanced maturation, including growth and pubertal development, although in adolescent males they can be associated with delayed pubertal development. 17

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

NON-NUTRITIONAL CAUSES

•• Non-nutritional causes of atypical growth include genetic causes, endocrine conditions, infection, trauma, and tumors.

•• Growth plate injuries and metabolic disorders (eg, rickets) can inhibit growth. •• Inflammatory disorders or trauma may damage the growth plate or articular cartilage and result in malunion, shortening, or angular deformity.

•• Pituitary tumors, chronic osteomyelitis, foreign body reaction, and some fractures may accelerate growth.

•• Non-nutritional causes affect weight and length in different ways than nutritional causes. ——Genetic causes (eg, skeletal dysplasias) tend to affect weight and length symmetrically. ——Endocrine causes (eg, hypothyroidism, Cushing syndrome, growth hormone deficiency) tend to affect length more than weight.

CONGENITAL GROWTH DEFECTS

•• Musculoskeletal problems account for about one-third of congenital defects, with

hip dysplasia and clubfoot accounting for half of the primary musculoskeletal defects. •• Three percent of newborns have major defects, that is, those that are life-threatening, require major surgery, or cause significant disability. •• Infants with multiple minor defects (eg, syndactyly of toes 2 and 3, single transverse palmar crease) should be thoroughly evaluated to exclude a major malformation. •• Atypical morphogenesis can be classified into 4 categories of defects: malformations, disruptions, deformations, and dysplasias. ——Malformations, such as limb hypoplasia, arise during organogenesis and are of teratogenic or genetic origin. ——Disruptions, such as amniotic band sequence, occur later in gestation when teratogenic, traumatic, or other factors interfere with normal fetal growth. These are less likely to be inherited. ——Deformations, such as calcaneovalgus foot deformity, occur at the end of gestation and are caused by intrauterine crowding or position. ——Dysplasias, such as achondroplasia, result from altered growth that occurs before and after birth. •• Developmental variations, which may resolve with time and seldom require any treatment, should be differentiated from deformities. Examples discussed elsewhere in this book include flatfoot (Chapter 52), in-toeing (Chapter 24), out-toeing (Chapter 25), and genu valgum (knock knee) or genu varum (bowleg) (Chapter 26, Angular Deformities). ——Temporary joint and muscle contractures can be caused by in utero positioning. Full-term newborns have 20- to 30-degree flexion contractures at the hip and knee that usually resolve by 6 months of age, and external rotation contractures of the hip that resolve at walking age. ——Indications for orthopaedic referral for developmental variations typically include persistence of condition beyond the expected age of correction. For in-toeing and out-toeing as well as genu valgum and varum, variations typically resolve around 7 to 8 years of age.



Chapter 2: Atypical Musculoskeletal Growth and Motor Development

19

Atypical Motor Development

•• Difficulties with visuospatial information that guides gross motor actions can lead

to ineptitude at skills such as catching and throwing. •• Some children have difficulty planning complex motor procedures needed for tasks such as dancing, and others lack adequate proprioception and are impaired with activities requiring balance and control of body movement. •• Difficulties with fine motor skills, caused by impaired hand-eye coordination, can lead to problems with rapid and precise hand movements and impair tasks such as drawing, writing, or playing an instrument. •• Limited competence in fundamental motor skills at an early age can negatively affect future performance in physical and motor activities. •• Developmental deviation is when children develop skills out of the usual sequence. •• Developmental dissociation occurs when developmental spheres are achieved at different rates. ——Children with cerebral palsy show motor delay but normal language development. ——Children with autism show language delay but often achieve motor milestones at a normal rate. ——Toe walking is often seen in children with autism, cerebral palsy, muscular dystrophy, or other developmental delay. •• Milestone regression, or loss of developmental skills, is a serious developmental problem suggesting an active, ongoing neurologic or muscular condition. EARLY DETECTION AND INTERVENTION

•• The goal of developmental surveillance and screening is to identify children

with developmental problems early to ensure they receive the benefits of early intervention (EI). •• Early detection of motor problems and EI can eliminate or minimize many physical and related emotional problems. ——Interventions for motor disorders have been shown to be effective at 18 months of age. ——There is strong evidence that EI can result in significant improvements in cognitive and emotional development. ——Later interventions in children with more established disabilities show more modest gains. Developmental Surveillance

•• Developmental surveillance is the process of identifying children who may be at

risk of developmental delays. A good source of information on motor, sensory, and other developmental milestones can be found at https://pathways.org. •• Developmental surveillance should be incorporated into every well-child visit, with additional developmental screening tests administered at the 9-, 18-, and 24or 30-month visits or any time concerns are raised by parents, clinicians, or others involved in the care of the child. •• Mild motor delays that were undetectable at 9-month screening may be more apparent at 18 months, and by 30 months of age most motor delays may be identified with screening instruments.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Table 2-1. Normal Ages When Primitive Reflexes Extinguish Reflex

Normal Age When ­Reflex ­Extinguishes

Rooting

4 mo

Moro

4–6 mo

Tonic labyrinthine

4–6 mo

Galant

4–6 mo

Palmar grasp

5–6 mo

Asymmetric and symmetric tonic neck reflexes

6–7 mo

Foot placement (stepping) Babinski

Before 12 mo 12 mo

•• Parental concerns about development should be appropriately addressed, but lack

of parental concern does not necessarily indicate normal development. •• Surveillance should continue throughout childhood, and developmental concerns should be addressed at every pediatric health supervision visit for the first 5 years (Table 2-1). •• Children identified as at risk for delayed or disordered development should receive further detailed diagnostic developmental evaluation, including a thorough history, physical examination, vision and hearing assessment, family history, prenatal and postnatal history, review of newborn metabolic screening and growth charts, laboratory tests (eg, chromosome testing), and assessment of other environmental and social risk factors. ——If a disorder is not identified, the child should be followed with more frequent visits to re-evaluate the areas of concern. •• An underlying etiology will be identified in approximately 25% of children with delayed development, with higher rates (> 50%) in children with global developmental delays and motor delays. •• Observations made over a period are most informative, and developmental screening tests should be used periodically. Developmental Screening

•• Developmental screening is the administration of a brief standardized tool that aids the identification of children at risk for a developmental disorder.

•• Pediatrician assessment of a child’s developmental status is more accurate with the use of a standardized screening tool.

•• Many screening tools are available, but there is no universally accepted screening tool appropriate for all populations and ages.

•• Sensitivity and specificity levels of 70% to 80% (moderate) are considered acceptable for developmental screening tests.

•• Most tools can be completed by parents, scored by nonphysicians, and

interpreted by physicians. See Table 2-2 for a list of common developmental screening tools.



21

Chapter 2: Atypical Musculoskeletal Growth and Motor Development

Table 2-2. Developmental Screening Tools Testing Age Range

Tool

Description

Parents’ Evaluation of Developmental Status (PEDS)

Suitable for eliciting and addressing parental concerns. Indicates when to refer, screen further, or reassure (sensitivity 0.74, specificity 0.7–0.8).

0–8 y

Parents’ Evaluation of Developmental Status: Developmental Milestones (PEDS:DM)

Useful for periodic evaluation of milestones. One question per each domain: fine motor, gross motor, social-emotional, self-help, expressive language, receptive language, reading, and math (sensitivity 0.83, specificity 0.84).

0–8 y

Early Screening Inventory (ESI)

Brief parent questionnaires based on milestones to screen for children who may need special education. Has increased sensitivity to detect subtle delays (sensitivity 0.92, specificity 0.80).

3–6 y

Ages and Stages Questionnaire (ASQ)

At-home screening test used between health supervision visits to assess communication, gross motor, fine motor, problem-solving, and personal adaptive skills (sensitivity 0.70–0.90, specificity 0.76–0.91).

Child Development Inventory (CDI)

300 items that measure social, self-help, motor, language, and general developmental skills. Suitable for more in-depth evaluation (sensitivity 0.8–1.0, specificity 0.94–0.96).

18 mo–6 y

Early Motor Pattern Profile (EMPP)

15 items, administered by a physician to screen for cerebral palsy by examining movement, tone, and reflex development for ages 6–12 mo (sensitivity 0.87–0.92, specificity 0.98).

6–12 mo

Motor Quotient (MQ)

Assesses 11 milestones per visit and uses a simple ratio quotient with gross motor milestones to detect delayed motor development (sensitivity 0.87, specificity 0.89).

8–18 mo

Test of Infant Motor Performance (TIMP)

42 items with picture references that assess motor tone, axis symmetry, and movement. Administered by physician or physical/ occupational therapist (sensitivity 0.92, specificity 0.76).

4–48 mo

Preterm infants > 34 wk post-conceptional age to 4 mo adjusted age

Bibliography—Part 1 Abbassi V. Growth and normal puberty. Pediatrics. 1998;102(2 Pt 3):507–511 American Academy of Pediatrics Council on Children with Disabilities, AAP Section on Developmental Behavioral Pediatrics, AAP Bright Futures Steering Committee, AAP Medical Home Initiatives for Children with Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in the medical home: an algorithm

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

for developmental surveillance and screening. Pediatrics. 2006;118(1):405–420. Reaffirmed August 2014 Gerber RJ, Wilks T, Erdie-Lalena C. Developmental milestones: motor development. Pediatr Rev. 2010;31(7):267–276 Grummer-Strawn LM, Reinold C, Krebs NF; Centers for Disease Control and Prevention (CDC). Use of World Health Organization and CDC growth charts for children aged 0-59 months in the United States. MMWR Recomm Rep. 2010;59(RR-9):1–15 Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020 Paley D, Bhave A, Herzenberg JE, Bowen JR. Multiplier method for predicting limb-length discrepancy. J Bone Joint Surg Am. 2000;82(10):1432–1446 Wrotniak BH, Epstein LH, Dorn JM, Jones KE, Kondilis VA. The relationship between motor proficiency and physical activity in children. Pediatrics. 2006;118(6):e1758–e1765

Part 2: Musculoskeletal Evaluation TOPICS COVERED 3. History..................................................................................... 25 Mechanism of Injury Pain Deformity Change in Function Previous Management Sports and Physical Activity History Past Medical and Surgical History Pregnancy and Birth History Medications and Allergies Diet Growth and Developmental History Social History Family History Review of Symptoms 4. Physical Examination................................................................. 33 General Principles of the Physical Examination Inspection Range of Motion Muscle Tone Muscle Strength Muscle Flexibility Reflexes Sensation Joint Stability Palpation Joint-Specific Evaluations Lower Extremity Rotation and Alignment Gait Evaluation 5. Musculoskeletal Imaging Studies.................................................. 63 Effective Radiation Doses Radiography

23

Computed Tomography Magnetic Resonance Imaging Ultrasonography Nuclear Medicine Dual Energy X-ray Absorptiometry 6. Laboratory Studies..................................................................... 75

CHAPTER 3

History •• Musculoskeletal issues may result from a wide range of possible etiologies (Table 3-1).

•• History is an important aspect of the musculoskeletal evaluation and may alone yield the diagnosis in 75% of cases.

•• The most common musculoskeletal issues are injury, pain, deformity, and change in function.

Mechanism of Injury

•• Ask the child and family to provide a detailed account of how the injury occurred. •• The mechanism of injury is very important—it may identify injured structures and injury types. ——An inversion injury to the ankle commonly results in sprain of the lateral ­ligaments. ——A fall on an outstretched arm commonly results in a humerus or radius ­fracture.

Table 3-1. Categories of Etiologies of Musculoskeletal Issues Etiology

Examples

Trauma  Acute  Chronic

Fracture, tendon rupture Stress fracture, tendinopathy

Inflammation

Juvenile idiopathic arthritis

Infection

Osteomyelitis

Neoplasm  Malignant  Benign

Osteosarcoma, leukemia Unicameral bone cyst, exostosis

Congenital abnormality

Clubfoot, amniotic band syndrome

Neurodevelopmental disorder

Cerebral palsy, hereditary motor and sensory neuropathy

Endocrine disorder

X-linked hypophosphatemic rickets

Hematologic disorder

Osteonecrosis

Genetic disorder

Osteogenesis imperfecta, trisomy 21

25

26

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• If the trauma was not witnessed, knowing what type of activity the child was participating in at the time of the suspected injury may suggest a mechanism.

•• Trauma is common in active children, but it may not always be the cause of the symptoms.

•• When the mechanism does not match the symptoms, or when the timing of the

trauma does not coincide closely with the onset of symptoms, consider a coincidental condition such as neoplasm or infection, or nonaccidental trauma.

Pain

•• Pain expression depends on the patient’s age. ——Neonates and infants usually refuse to move the painful area (pseudoparalysis) and cry or are fussy.

——Children will avoid using the painful part, alter its function, or report pain. They may be able to localize pain but are rarely able to characterize it.

——Adolescents will report pain and can localize and characterize it.

•• Pain location can be determined by asking the patient to point with one finger

“where you feel the pain,” or by asking the patient to indicate where they hurt on a corresponding drawing of a human figure (Figure 3-1). Keep in mind that pain may occur along dermatomal distributions or be referred from another site in addition to occurring at areas of peripheral nerve innervation. Figure 3-1. Human ­figure marked by patient to indicate location of pain.



Chapter 3: History

•• Severity can be rated by using a numeric scale (1 to 10) or by using a pain face

27

scale such as the Wong-Baker FACES® Pain Rating Scale (Figure 3-2). •• Quality (eg, sharp, dull, aching, throbbing, burning), onset, frequency, and duration can be assessed using open-ended questions and may reveal patterns suggestive of potential pathologies. •• Timing of pain and factors that aggravate or relieve the pain may assist in diagnosis and guide treatment. ——Mechanical causes worsen with activity. ——Inflammatory causes worsen after rest. ——Progression over time can indicate whether the condition is static, episodic, improving, or worsening. ——Malignancies and infections frequently cause pain at rest, awaken children from sleep, or both. ——Night pain relieved by nonsteroidal anti-inflammatory medication is classic for osteoid osteoma. •• Presence of associated symptoms may suggest involvement of specific systems (Box 3-1). •• Chronic pain is less common in children than in adults, but it still is a difficult problem to diagnose and treat.

Figure 3-2. Wong-Baker FACES® Pain Rating Scale. © 1983 Wong-Baker FACES Foundation. www.WongBakerFACES.org. Used with permission. Originally published in Whaley & Wong’s Nursing Care of Infants and Children. © Elsevier Inc.

Box 3-1. Symptoms Suggestive of Specific System Involvement Neurologic: Numbness, tingling, and weakness Musculoskeletal: Mechanical symptoms of clicking, locking, or instability Infectious or inflammatory: Redness, warmth, swelling, and stiffness Vascular: Changes in skin color and temperature Systemic etiology: Fever, fatigue, or involvement of other joints

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Deformity

•• Variants of normal musculoskeletal development, such as knock-knee, flatfoot,

and in-toeing, are common and inconsequential. These should be differentiated from significant congenital, developmental, and neuromuscular abnormalities (eg, congenital vertical talus, Blount disease, cerebral palsy). •• Determine the onset, progression over time, and any limitations. ——Normal variants have a predictable progression and usually resolve spontaneously. ——Pain or limitation in the child’s functional abilities or motor development is concerning.

Change in Function

•• May be caused by pain, injury, deformity, or weakness and warrants further ­evaluation

Previous Management

•• Ask about the effects (beneficial and adverse) of prior treatments (eg, physical

therapy, braces, orthoses, anti-inflammatory medications). ——This may narrow the differential diagnosis and suggest treatments to continue, discontinue, or modify. •• Inquire about treatment duration and adherence as reasons for lack of effect. Asking patients to demonstrate physical therapy exercises can help the clinician understand adherence to and adequacy of a prescribed physical therapy regimen.

Sports and Physical Activity History

•• Questions to ask when taking the sports and physical activity history are listed in Box 3-2.

•• Severity of symptoms may be estimated by the degree to which they limit the child’s usual activities.

•• Overuse, overtraining, and burnout are underappreciated phenomena in children. •• Sport-specific physical therapy and knowledge of important upcoming events help with return-to-play.

Box 3-2. Sports and Physical Activity History Questions What physical activities (eg, sports, dance, music, drama) does the child enjoy? Are the symptoms limiting participation in these activities? What is the child’s position/role, level of competition, and hand/leg dominance? How many hours per week are spent in practice and competition, and how many days’ rest does the child have per week and per year? What is the timeline for upcoming games, competitions, or tryouts?



29

Chapter 3: History

Past Medical and Surgical History

•• Systemic diseases, or their treatments, may have musculoskeletal manifestations

(Table 3-2). •• History of recent infection ——Raises suspicion for post-infectious phenomena such as rheumatic fever (pharyngitis), reactive arthritis (gastrointestinal infection), and transient synovitis of the hip ——Provides clues to identifying the source and pathogen in the case of a septic joint •• History of frequent fractures ——May suggest inflicted trauma ——May be a sign of underlying metabolic bone disease

Table 3-2. Examples of Systemic Diseases With Musculoskeletal M ­ anifestations Musculoskeletal Manifestations

System

Condition

Neuromuscular

Cerebral palsy

Gait abnormalities, scoliosis, joint contractures

Muscular dystrophy

Gait abnormalities, scoliosis

Spinal muscular atrophy

Scoliosis, hip dislocations

Renal

X-linked hypophosphatemic rickets

Bony pain, short stature, alignment abnormalities

Endocrine

GH deficiency

SCFE

Hypothyroidism

SCFE, Perthes-like hip disease

Marfan syndrome

Scoliosis, ligamentous laxity, pectus excavatum, recurrent patellar ­dislocations

VATER syndrome

Congenital scoliosis

VACTERL association

Limb deficiencies (eg, thumb ­hypoplasia, radial deficiency)

Prader-Willi syndrome

Hip dysplasia, scoliosis, genu valgum

Factitious disorder, conversion disorder

Pain or symptoms that do not correlate with history or physical examination findings (NOTE: diagnosis of exclusion)

Genetic/ Developmental

Psychiatric

Abbreviations: GH, growth hormone; SCFE, slipped capital femoral epiphysis; VACTERL, vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities; VATER, vertebral defects, imperforate anus, tracheoesophageal fistula, radial and renal dysplasia.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Pregnancy and Birth History

•• Identify potential risk factors for cerebral palsy (eg, preterm birth, neonatal intensive care unit stay).

•• Forceps or vacuum-assisted delivery may suggest shoulder dystocia and risk for fracture in a newborn.

Medications and Allergies

•• Some medications have musculoskeletal side effects. •• Note any allergies to medications commonly used to treat musculoskeletal pain or injury (eg, anti-inflammatory medications).

Diet

•• A diet history may identify potential nutritional deficiencies that have musculoskeletal manifestations (see Chapter 6, Laboratory Studies, Box 6-1).

•• Relative energy deficiency in sport (RED-S) is a known risk factor for musculoskeletal injury (see Chapter 33, Overuse Injuries)

Growth and Developmental History

•• Systemic diseases with musculoskeletal manifestations may cause abnormal growth (Table 3-3).

•• If developmental delay is present, the pattern may suggest the underlying diagnosis (see Chapter 1, Typical Growth and Motor Development).

•• Early preferential handedness ( 75%

Protein (g/dL)

1.8

3–4

4

Glucose (mg/dL below serum)

20

20

30–50

•• Thyroid studies identify hypothyroidism associated with delayed skeletal

maturation, atypical slipped capital femoral epiphysis, or Perthes disease.

•• Serum calcium, phosphate, 25-OH vitamin D, and other markers of bone metabolism are ordered when a metabolic bone disease such as rickets is suspected.

•• Laboratory studies have limited utility when screening for inflammatory arthritis,

but they are helpful in determining prognosis and guiding treatment. ——Antinuclear antibody is neither sensitive nor specific for juvenile idiopathic arthritis (JIA); it is sensitive but not specific for systemic lupus erythematosus. Antinuclear antibody–positive JIA has a higher rate of anterior uveitis. ——Rheumatoid factor (RF) assay is a sensitive test for rheumatoid arthritis in adults. „„In children, the sensitivity of RF in detecting JIA is about 5%; however, the test is approximately 98% specific. „„Older children, girls, and patients with a large number of affected joints are more likely to have positive RF assays. ——HLA-B27 serotype has a strong association with juvenile ankylosing spondylitis, Reiter syndrome, arthritis associated with inflammatory bowel disease, and juvenile psoriatic arthritis. „„The presence of HLA-B27 is sensitive but not specific for these disorders; therefore, serotype testing is only done to support strong clinical suspicions. ——Arthritis can be a finding in late-stage Lyme disease. „„Lyme titers have 95% sensitivity when performed in patients with late-stage disease; however, specificity is only about 80%. Titer levels for positive/­ negative tests are based on endemic rates of Lyme disease, so regional ­variations exist. „„Patients with suspected Lyme arthritis who have positive enzyme-linked immunosorbent assay serology testing should undergo confirmatory Western blot testing to decrease the rate of false positives. •• Dietary deficiencies and excesses may manifest as musculoskeletal disorders (Box 6-1).



Chapter 6: Laboratory Studies

77

Box 6-1. Musculoskeletal Manifestations of Dietary Deficiencies and Excesses Vitamin A deficiency • Excessive deposition of periosteal bone Vitamin A excess (hypervitaminosis A) • Bone pain, tenderness, and swelling • Craniotabes (decreased mineralization of the skull) • Hyperostosis of long bones (usually mid shaft) Vitamin C deficiency (scurvy) • Arthralgia, myalgia, hemarthrosis, muscular hematomas, osteonecrosis, osteopenia Deficiency of vitamin D, calcium, or phosphorous (rickets) • Musculoskeletal pain, osteomalacia, skeletal deformities (eg, genu varum or valgum, scoliosis), fractures Iron deficiency • Restless legs syndrome Magnesium deficiency • Sudden, involuntary muscle twitches or jerks (myoclonus) • Muscle weakness Copper deficiency Osteoporosis, arthritis

Bibliography—Part 2 The Alliance for Radiation Safety in Pediatric Imaging. Image Gently Campaign website. https:// www.imagegently.org/. Accessed August 17, 2020. Barnes CJ, Van Steyn SJ, Fischer RA. The effects of age, sex, and shoulder dominance on range of motion of the shoulder. J Shoulder Elbow Surg. 2001;10(3):242–246 Bennell K, Khan KM, Matthews B, et al. Hip and ankle range of motion and hip muscle strength in young female ballet dancers and controls. Br J Sports Med. 1999;33(5):340–346 Benvenuti MA, An TJ, Mignemi ME, et al. A clinical prediction algorithm to stratify pediatric musculoskeletal infection by severity. J Pediatr Orthop. 2019;39(3):153–157 Correll CK, Spector LG, Zhang L, Binstadt BA, Vehe RK. Use of rheumatology laboratory studies among primary pediatricians. Clin Pediatr (Phila). 2016;55(14):1279–1288 Eichenfield AH, Athreya BH, Doughty RA, Cebul RD. Utility of rheumatoid factor in the diagnosis of juvenile rheumatoid arthritis. Pediatrics. 1986;78(3):480–484 Fabry G, Cheng LX, Molenaers G. Normal and abnormal torsional development in children. Clin Orthop Relat Res. 1994;(302):22–26 Fischer SU, Beattie TF. The limping child: epidemiology, assessment and outcome. J Bone Joint Surg Br. 1999;81(6):1029–1034 Forriol F, Pascual J. Footprint analysis between three and seventeen years of age. Foot Ankle. 1990;11(2):101–104

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Goldberg SR, Ounpuu S, Delp SL. The importance of swing-phase initial conditions in stiff-knee gait. J Biomech. 2003;36(8):1111–1116 Heath CH, Staheli LT. Normal limits of knee angle in white children--genu varum and genu valgum. J Pediatr Orthop. 1993;13(2):259–262 The Joint Commission. Radiation risks of diagnostic imaging and fluoroscopy. Sentinel Event Alert. 2011;47:1–4. https://www.jointcommission.org/-/media/tjc/documents/resources/patient-safetytopics/sentinel-event/sea_47_radiation_revised2_feb_20181.pdf. Revised February, 2019. Accessed August 17, 2020. Katz K, Rosenthal A, Yosipovitch Z. Normal ranges of popliteal angle in children. J Pediatr Orthop. 1992;12(2):229–231 Kocher MS, Mandiga R, Zurakowski D, Barnewolt C, Kasser JR. Validation of a clinical prediction rule for the differentiation between septic arthritis and transient synovitis of the hip in children. J Bone Joint Surg Am. 2004;86(8):1629–1635 Kocher MS, Zurakowski D, Kasser JR. Differentiating between septic arthritis and transient synovitis of the hip in children: an evidence-based clinical prediction algorithm. J Bone Joint Surg Am. 1999;81(12):1662–1670 Malleson PN, Sailer M, Mackinnon MJ. Usefulness of antinuclear antibody testing to screen for rheumatic diseases. Arch Dis Child. 1997;77(4):299–304 Mirovsky Y, Copeliovich L, Halperin N. Gowers’ sign in children with discitis of the lumbar spine. J Pediatr Orthop B. 2005;14(2):68–70 Nguyen A, Kan JH, Bisset G, Rosenfeld S. Kocher criteria revisited in the era of MRI: how often does the Kocher criteria identify underlying osteomyelitis? J Pediatr Orthop. 2017;37(2):e114–e119 Peltola H, Vahvanen V, Aalto K. Fever, C-reactive protein, and erythrocyte sedimentation rate in monitoring recovery from septic arthritis: a preliminary study. J Pediatr Orthop. 1984;4(2):170–174 Perry J. Gait Analysis: Normal and Pathological Function. Thorofare, NJ: SLACK Inc; 1992:1–16 Rao KN, Joseph B. Value of measurement of hip movements in childhood hip disorders. J Pediatr Orthop. 2001;21(4):495–501 Sanchez E, Vannier E, Wormser GP, Hu LT. Diagnosis, treatment, and prevention of Lyme disease, human granulocytic anaplasmosis, and babesiosis: a review. JAMA. 2016;315(16):1767–1777 Singh H, McKay M, Baldwin J, et al. Beighton scores and cut-offs across the lifespan: cross-­ sectional study of an Australian population. Rheumatology (Oxford). 2017;56(11):1857–1864 Staheli LT, Corbett M, Wyss C, King H. Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am. 1985;67(1):39–47 Sutherland DH, Olshen R, Cooper L, Woo SL. The development of mature gait. J Bone Joint Surg Am. 1980;62(3):336–353 Telleria JJ, Cotter RA, Bompadre V, Steinman SE. Laboratory predictors for risk of revision surgery in pediatric septic arthritis. J Child Orthop. 2016;10(3):247–254 Wong DL, Baker CM. Pain in children: comparison of assessment scales. Pediatr Nurs. 1988;14(1):9–17 Youdas JW, Garrett TR, Suman VJ, Bogard CL, Hallman HO, Carey JR. Normal range of motion of the cervical spine: an initial goniometric study. Phys Ther. 1992;72(11):770–780

Part 3: Musculoskeletal I­ nfections TOPICS COVERED 7. Osteomyelitis............................................................................. 81 Acute and Subacute Hematogenous Osteomyelitis Chronic Osteomyelitis Chronic Recurrent Multifocal Osteomyelitis 8. Septic Arthritis.......................................................................... 95 9. Miscellaneous Infections........................................................... 101 Diskitis Vertebral Osteomyelitis Pyomyositis



79

CHAPTER 7

Osteomyelitis Overview

•• Bone, joint, and soft tissue infections are a significant cause of morbidity in pediatric populations.

•• Clinical diagnosis may be challenging or delayed when classic symptoms such as chills, fever, pain, and swelling are absent, or in the very young child.

•• Principles of effective treatment are generally well understood; however, changing antimicrobial susceptibility has altered clinical decision-making.

•• Magnetic resonance imaging (MRI) has also allowed for more accurate diagnosis. •• Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has led to an increased incidence of musculoskeletal infections in children.

•• Hematogenous spread from skin or a distant site of infection is the most common mechanism of bone/joint infection in children.

•• Local spread from a traumatized contiguous site, known as direct inoculation, is a less common mechanism of infection in children. ——Loss of skin integrity is caused by penetrating trauma, open fractures, surgery, burns, skin ulcerations, or local soft tissue infections. •• Secondary osteomyelitis typically refers to infection related to predisposing conditions such as vascular insufficiency from diabetes mellitus or peripheral vascular disease. •• Classification of acute, subacute, and chronic infection is based on clinical course and duration. ——Acute osteomyelitis, up to 2 weeks ——Subacute osteomyelitis, 2 weeks or longer ——Chronic osteomyelitis (presence of findings such as Brodie abscess or necrotic bone), the duration of symptoms is variable ——Likelihood of surgical indications, such as periosteal abscess, is greater with subacute compared to acute osteomyelitis. ——Some patients do not recall an initial period of acute symptoms.

Acute and Subacute Hematogenous Osteomyelitis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Characteristics of blood vessels at the metaphyses of bone (Figure 7-1) and distribution of hematogenous osteomyelitis ——Eighty percent of hematogenous osteomyelitis in children occurs at the metaphyses of long bones; less frequent are hands and feet, pelvis, and

81

82

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 7-1. Relation of blood supply to the proximal femur and spread of infection (bold arrows). The blood vessels essentially make a U-turn at the physis, leading to a low flow state within the metaphysis and predisposing to infection. From Dormans JP, Drummond DS. Pediatric hematogenous osteomyelitis: new trends in presentation, diagnosis, and treatment. J Am Acad Orthop Surg. 1994;2(6):333–341. Reprinted with permission.

vertebrae. Hematogenous osteomyelitis rarely involves the clavicle, ribs, sternum, or skull. ——In infants, blood vessels from the metaphysis can pass into the epiphysis. „„Osteomyelitis in infants typically involves both the metaphysis and epiphysis. „„Infants are more prone to complicated osteomyelitis, including extension of infection into the joint. „„Depending on growth plate location, by age 18 months to 3 years, vessels from the metaphysis no longer extend through the growth plate into the epiphysis. ——At all ages, the metaphyses are intracapsular within the shoulder, elbow, ankle, and hip joints. Osteomyelitis extends infection into these joints without traversing the growth plate and epiphysis. •• Annual incidence of hematogenous osteomyelitis in the pediatric age group is approximately 1 per 5,000, with more than half of the cases involving infants and children younger than 5 years; twice as many boys as girls are affected. •• Etiology ——S aureus causes 70% to 90% of hematogenous osteomyelitis at all ages (see Table 7-1). ——CA-MRSA is due to strains that carry virulence factors that promote abscess and venous thrombosis. One virulence factor of CA-MRSA strains is Panton-Valentine leukocidin, and this exotoxin is a marker for CA-MRSA strains. ——Most areas of North America have rates of CA-MRSA (10%–60% of all S aureus cultures) that affect choice of antibiotics for hematogenous osteomyelitis.



Chapter 7: Osteomyelitis

83

Table 7-1. Organisms Commonly Associated With Osteomyelitis by Age Group Age

Organism

0–2 mo

Staphylococcus aureus (methicillin-susceptible and MRSA resistant) Streptococcus agalactiae (group B streptococcal disease) Gram-negative enteric bacteria

2 mo–5 y

S aureus Streptococcus pyogenes (group A streptococcal disease) Kingella kingae

5–18 y

S aureus S pyogenes

Abbreviation: MRSA, methicillin-resistant Staphylococcus aureus.

——Kingella kingae is a fastidious gram-negative rod increasingly recognized in

infections in young children aged several months to 5 years (see Table 7-1). proportion of culture-negative osteomyelitis and septic arthritis cases are caused by K kingae. „„Polymerase chain reaction (PCR) may detect K kingae in culture-negative cases, and direct inoculation of large volumes of bone and joint specimens directly into blood culture bottles recovers K kingae more frequently than other culture procedures. „„K kingae is not sensitive to clindamycin and vancomycin, which are often chosen to cover CA-MRSA. ——Many other microorganisms have been implicated in osteomyelitis. „„Group A streptococcus and Streptococcus pneumonia are the next most common after S aureus and K kingae. „„For abnormal hosts (eg, sickle cell disease [Salmonella is a common pathogen], chronic granulomatous disease, HIV infection), unusual presentations (eg, granulomatous osteomyelitis suggestive of tuberculosis or fungal infection), or specific exposure history (eg, bite wound), additional consultation with a pediatric infectious diseases specialist or reference to more detailed publications is necessary. „„A

SIGNS AND SYMPTOMS

•• Typical presentation is sudden onset of focal limb pain that does not completely

resolve with rest and persists at night. The pain may be episodic; refusal to bear weight or use the affected extremity are important signs. •• At least half of children with hematogenous osteomyelitis have elevated temperature or fever higher than 38°C at some point in the clinical course. •• Physical examination findings may include pain, warmth, and swelling at the metaphyseal location of bones, and may include cellulitis. •• Atypical presentations are common. Questionable cases should be scheduled for re-examination the next day after testing including radiography, complete blood cell count, C-reactive protein (CRP) level, and erythrocyte sedimentation rate (ESR).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

DIFFERENTIAL DIAGNOSIS

•• See Box 7–1. DIAGNOSTIC CONSIDERATIONS

•• Radiographs are the initial imaging study of choice in all cases. Since pain can be referred, it is important to image the entire bone in question. Radiographs may be sufficient imaging when a suspected diagnosis of osteomyelitis is confirmed on the images. ——During the first 5 to 7 days of symptoms in children and the first 10 to 14 days in skeletally mature individuals, radiographs do not detect changes of hematogenous osteomyelitis, and therefore may appear normal. ——Earliest findings are soft tissue swelling with obliteration of tissue planes, periosteal thickening or elevation, and focal osteopenia. ——Involucrum refers to a periosteal sheath of new bone formation that usually requires 3 weeks to develop (Figure 7-2). ——Lytic changes are a later finding because at least 50% to 75% of the bone matrix must be destroyed to result in radiographic abnormalities (Figure 7-3). ——Sequestrum refers to discrete lucency due to osteonecrosis. ——Brodie abscess is a finding of chronic osteomyelitis. A central lucency is walled off by a fibrous capsule with sclerosis in the surrounding bone (Figure 7-4). •• MRI, when available, is the study of choice when radiographs have not defined osteomyelitis and symptoms are localized (Figure 7-5). ——Intravenous contrast (gadolinium) demonstrates bone or soft tissue abscesses in detail with enhancement about the rim of the abscess.

Box 7-1. Differential Diagnosis for Osteomyelitis Trauma • Unintentional and intentional Neoplasms • Malignant bone tumors (eg, Ewing sarcoma, osteogenic sarcoma) • Malignancy involving bone marrow (eg, leukemia, neuroblastoma) • Other bone lesions (eg, fibrous dysplasia, osteoid osteoma, chondroblastoma, eosinophilic granuloma, other histiocytosis) Noninfectious conditions • Chronic recurrent multifocal osteomyelitis • Arthritis and rheumatologic disorders with musculoskeletal involvement • Bone infarction (including underlying hemoglobinopathy and Gaucher disease) • Caffey disease Infectious conditions • Septic arthritis • Cellulitis • Abscess of overlying bone



Chapter 7: Osteomyelitis

85

Figure 7-2. Radiograph of chronic osteomyelitis showing necrosis in the entire shaft of the radius (essentially, the entire bone has become a sequestrum) and a developing involucrum.

Figure 7-3. A lytic lesion of the proximal femoral diaphysis with adjacent periostitis secondary to chronic osteomyelitis due to Staphylococcus aureus.

——Differential diagnosis is clarified by MRI in a large proportion of cases. „„MRI

can detect the presence of osteomyelitis within 3 to 5 days of disease onset, but sometimes even earlier. „„MRI can also detect occult abscesses in patients with osteomyelitis that are not improving with medical treatment alone and may require surgery. ——MRI sensitivity and specificity are around 90%. However, the extraordinary sensitivity of MRI can lead to over-diagnosis of osteomyelitis in trauma or soft tissue infection if the study is not interpreted with reference to physical examination findings.

86

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 7-4. Anteroposterior radiograph of the distal radius. This image depicts a central metaphyseal lesion (ie, Brodie abscess). From Khoshhal KI. Subacute osteomyelitis (Brodie abscess). https://emedicine.medscape.com/ article/1248682-overview. Updated May 27, 2020. Accessed September 22, 2020. Reproduced with permission from Medscape Drugs & Diseases. Copyright by WebMD, LLC.

Figure 7-5. T2-weighted magnetic resonance image of the pelvis of a 10-year-old boy with fever and hip pain. The left iliac wing shows increased signal intensity (arrow) consistent with osteomyelitis of the left iliac wing. Note the pyomyositis of the iliopsoas and abductor muscles.

——Sedation is often necessary to obtain an adequate MRI study in younger children who cannot remain still.

•• Computed tomography (CT) imaging may be obtained more rapidly but has

less anatomic detail compared to MRI and in general should not be used as a diagnostic study. ——CT-guided aspiration has an adjunctive role in management of osteomyelitis. ——CT may be used for planning surgery for chronic osteomyelitis because of excellent resolution of lytic bone changes. •• Nuclear medicine studies have been used less frequently as MRI has become more available. ——Technetium 99m polyphosphate bone scan detects bone remodeling, increased blood flow, and inflammation.



Chapter 7: Osteomyelitis

——Bone scan may be diagnostic for osteomyelitis before changes are seen on

87

radiographs. Diagnostic information may be complementary to other imaging studies obtained. ——Bone scan may be chosen when physical examination does not localize the site of suspected osteomyelitis. Once the infection is localized on bone scan, an MRI scan of the affected area is helpful for providing more detail. ——Bone scan may detect multiple areas of abnormality in multifocal osteomyelitis. ——Bone scan, however, may not distinguish infarction from infection in sickle cell disease (in which case, MRI would be helpful). ——Gallium citrate scan and Indium 111–labeled leukocyte scan have very limited uses currently. ——The duration of procedural sedation for nuclear medicine scans may be shorter than the time necessary for MRI. •• Ultrasonography may be an adjunct to other imaging. Subperiosteal or soft tissue abscesses may be defined to guide aspiration. •• Venous Doppler ultrasonography should be considered in the critically ill child to evaluate for deep vein thrombosis (DVT). •• Laboratory tests that detect inflammation are used to support a diagnosis of osteomyelitis. ——CRP level rises early and is elevated in 98% of patients with acute hematogenous osteomyelitis. It is common to monitor serial CRP levels to document response to the first days of therapy. ——ESR is elevated in 90% of patients with acute hematogenous osteomyelitis and peaks at 3 to 5 days. ESR should have normalized before antibiotic therapy is concluded. ——White blood cell (WBC) count on complete blood cell count reflects acute infection and is also used to monitor adverse effects of high-dose antibiotics. ——A persistently normal ESR and CRP level virtually rule out osteomyelitis. •• Cultures ——Blood cultures are essential to obtain prior to the initiation of antibiotic therapy. Bacteremia is present in 50% of cases of acute hematogenous osteomyelitis. Positive blood cultures can help avoid the need for a diagnostic bone biopsy; however, superficial wound cultures are generally nonspecific and only correlate with bone biopsy cultures approximately onethird of the time. ——Aspiration of bone for Gram stain and culture has higher recovery of bacteria than blood cultures. If a physician trained in this procedure is available, antibiotics should be deferred in medically stable patients until specimens have been obtained. Ultrasonography or CT may be chosen to guide aspiration, but aspiration of marrow or bone from the involved metaphysis has been used with satisfactory yield of positive cultures and low rate of complications. ——Surgical or core biopsy specimens should be sent for both culture and histopathology since bone tumors can be mistaken for infection and vice versa. Particularly in atypical cases or chronic osteomyelitis, cultures may be ordered for anaerobic bacteria, mycobacteria, and fungi. Chronic osteomyelitis is also more likely to have polymicrobial involvement or multiple pathogens.

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TREATMENT

•• After all of the cultures (blood, surgical specimens, and aspirates of soft tissue

abscess and synovial fluid) have been obtained, initial antibiotics for osteomyelitis are given intravenously. •• Under most circumstances, high doses of oral antibiotics have equivalent efficacy to intravenous antibiotics. •• The timing of transition from intravenous to oral antibiotics is determined based on several factors, including (1) clinical response, (2) susceptibility testing completed, and (3) normalization or significant improvement of CRP level. •• Most patients are treated with intravenous antibiotics for approximately 5 days and then continue high-dose oral antibiotics, a strategy termed sequential intravenous to oral therapy. •• ESR improves more slowly than the CRP level, and the ESR should normalize before antibiotics are completed. •• Continuous intravenous antibiotics, such as by percutaneously inserted central catheter or PICC, for home infusion are appropriate if the child has a complicated course at high risk for further surgery, if persistent infection is present, or if adherence to oral dosing cannot be assured. •• For uncomplicated hematogenous osteomyelitis, most experts recommend a minimum of 4 weeks of combined intravenous and oral antibiotic therapy. Shorter course therapy has been examined in clinical trials that did not include CA-MRSA. Some patients may respond with a shorter course of antibiotic therapy, although close follow-up with clinical evaluation, laboratory studies, and imaging is important. Complex patients are at much higher risk of relapse and may require prolonged treatment. •• Duration is extended beyond 4 weeks if clinical resolution is delayed or if ESR remains elevated. Most patients with osteomyelitis have normal musculoskeletal function after a couple weeks of antibiotic therapy. •• Selection of patients appropriate for sequential intravenous to oral therapy is essential to avoid pitfalls in management. Most children are cured, with radiologic resolution and recovery of normal functioning. •• The doses of intravenous and oral antibiotics for osteoarticular infections are summarized in Box 7–2. ——β-Lactam agents (eg, cefazolin, nafcillin, oxacillin) „„Although the proportion of S aureus with methicillin-resistance is greater than 10% in most localities of North America, many physicians use β-lactam monotherapy initially, provided that no warning signs of MRSA are present: (1) personal or contact history of MRSA infection; (2) recent hospitalization, surgery, or frequent health care contact; and (3) clinical signs more often associated with MRSA, such as soft tissue abscesses. „„If no clinical improvement is seen or if there are worsening symptoms, then clinical suspicion for the presence of CA-MRSA should be high and antibiotic regimens adjusted accordingly. ——Clindamycin has demonstrated efficacy in therapy of osteomyelitis caused by susceptible organisms. „„Demonstration of inducible resistance to clindamycin requires a D-test, which may not be done in all microbiology laboratories. K kingae,



Chapter 7: Osteomyelitis

89

Box 7-2. Dosages of Antibiotics for Osteoarticular Infections Intravenous • Cefazolin: 100 mg/kg/d divided q8h, maximum 2,000 mg q8h • Clindamycin: 30–40 mg/kg/d divided q8h, maximum 900 mg q8ha • Nafcillin or oxacillin: 150 mg/kg/d divided q6h, maximum 2,000 mg q6h • Vancomycin: 40–60 mg/kg/d divided q6 or 8h, maximum 1,000 mg q6ha • Linezolid: 20–30 mg/kg/d divided bid to tid, or 600 mg q12h for children ≥ 12 ya Typical high-dose oral for sequential intravenous to oral therapy • Cephalexin: 100–150 mg/kg/d divided qid, maximum 1,000 mg qid • Clindamycin: 30–40 mg/kg/d divided tid, maximum 600 mg tid • Trimethoprim with sulfamethoxazole: 8–14 mg/kg/d divided bid • Linezolid: 30 mg/kg/d divided tid for  40 mm/h, NWB affected extremity; temperature > 38.5°C [>101.3°F]; and CRP level > 2 mg/dL), advanced imaging. Confirmed by joint aspiration.

Toddler fracture

1–3 y

Antalgic

Tender at proximal

Radiographs frequently

tibia or tibial shaft

negative but may show periosteal reaction after 2 wk (Figure 10-3)

Cerebral palsy

> 1 y

Trendelenburg

Increased tone,

Rule out

or steppage

spasticity, clonus, and

neurodegenerative

flexion contracture in

disorders; neurologist

the affected limb(s)

can confirm diagnosis.

Muscular

Duchenne: Boys,

Delayed motor

Significantly elevated

dystrophy

18 mo–4 y

milestones (not

CPK level, abnormal

Becker: Boys,

walking by 18 mo);

EMG, muscle biopsy

2–21 y

Trendelenburg

weakness in proximal muscle groups, toe walking, calf pseudohypertrophy; Gowers sign



Chapter 10: The Limping Child: General Approach and Differential Diagnosis

111

Table 10-1. Common Causes of a Limp, continued Cause

Common Age Range

Gait Pattern

Signs and Symptoms

Diagnostic Considerations

Developmental

1–5 y; rarely,

Trendelenburg

In infants/toddlers:

Radiographs (AP

dysplasia of the

mild dysplasia

or equinus;

delayed walking

pelvis and frog lateral)

hip

may manifest in

when bilateral,

(15–18 mo)

(Figure 10-4)

adolescence.

exaggerated

In adolescents:

lumbar lordosis with waddling gait

activity-related pain, limb-length difference, limited hip ROM, and mild hip flexion contracture Joint pain with warmth,

Typical clinical

1–4 y

tenderness, swelling,

symptoms plus may

Polyarticular: 1–3

and limited ROM,

have elevated ESR,

possible iritis

positive rheumatoid

Juvenile

Pauciarticular:

idiopathic arthritis

Antalgic

y, adolescence

factor, or ANA 3–4 times more common in girls

Ewing sarcoma

1–20 y

Antalgic

Pain, swelling of the

Radiographs reveal

overlying soft tissues.

diaphyseal lesion with

May cause systemic

periosteal reaction;

symptoms, low RBC count, low WBC count, Osteoid osteoma

10–20 y

Antalgic

distinguished from osteomyelitis by

elevated ESR.

biopsy.

Pain in tibia or spine,

Radiographs may

usually at night

reveal lucent nidus surrounded by sclerosis; bone scan is diagnostic.

Acute leukemia

Joint pain or swelling,

Radiographs rarely

adolescence;

bruising, bleeding,

show paraphyseal,

most common

hepatosplenomegaly,

lucent metaphyseal

between 2 and

fever, and lethargy

bands. Anemia,

Birth–

Antalgic

thrombocytopenia,

3y

elevated ESR, and high or low WBC count. Bone marrow biopsy confirms diagnosis. Neuroblastoma

Bone pain, abdominal

Positive bone scan;

present around

pain and swelling,

increased levels of

2y

fever, weight loss,

urine vanillylmandelic

subcutaneous nodules,

acid

Birth–10 y; Most

Antalgic

orbital proptosis, and periorbital ecchymoses

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Table 10-1. Common Causes of a Limp, continued Cause

Common Age Range

Gait Pattern

Signs and Symptoms

Diagnostic Considerations

Perthes disease

4–10 y

Trendelenburg

Presents initially with

Radiographs may be

or antalgic

a painless limp that

normal early in the

becomes painful,

disease. Bone scan

then limits hip ROM,

and MRI are diagnostic

especially adduction

before radiographs

and rotation. If

(Figure 10-5).

epiphysis collapses or fragments, there may be a leg-length difference. Discoid lateral

3–12 y

Antalgic

meniscus

Activity-related knee

MRI

pain, clicking, and swelling; tenderness at the lateral knee joint; rare cause of limp

Limb-length

Any age;

Circumduction

Can be painful or

Measure leg length

discrepancya

depends on

and steppage

painless, depending

from the ASIS to the

etiology.

gait most

on etiology. Patient’s

medial malleolus

common;

iliac crest not level

(accurate within 1 cm).

Trendelenburg

when palpated from

Confirm and quantify

for some

behind.

on a standing plain radiograph with ruler

etiologies

(Figure 10-6). History and associated signs/ symptoms usually suggest etiology. Most leg-length discrepancies ≤ 1 cm do not cause visible limping. Slipped capital

9–15 y

femoral epiphysis

Trendelenburg

Painful, limited hip

Radiographs (AP

or antalgic

ROM

pelvis and frog lateral views [see Chapter 20, Slipped Capital Femoral Epiphysis]). May manifest with knee pain only. Assess hip ROM.

Activity-related pain,

Clinical diagnosis.

children between

point tenderness,

Imaging sometimes

9 and 18 y

improves with rest

necessary to rule out

Overuse

Physically active

syndromes (OsgoodSchlatter, Sever, other apophysitis, patellofemoral pain)

Antalgic

other etiologies.



Chapter 10: The Limping Child: General Approach and Differential Diagnosis

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Table 10-1. Common Causes of a Limp, continued Cause

Common Age Range

Gait Pattern

Signs and Symptoms

Diagnostic Considerations

Osteochondritis

9–18 y

Antalgic

Activity-related pain;

Radiographs (seen best

dissecans of

may have swelling and

on notch [tunnel] view);

knee, talus

reduced ROM.

MRI to evaluate the stability of the lesion; radiography, CT, or MRI for talus

Köhler disease

Kohler’s: 4–9 y

(aseptic necrosis/

Osteochondrosis:

osteochondrosis) of navicular Tarsal coalition

Antalgic

Atraumatic limp

Radiographs may be normal early; MRI shows hypointensity

8–15 y Recurrent ankle

Calcaneonavicular –

adolescent

sprains, stiff subtalar

oblique foot

athletes

motion

radiograph;

9–14 y,

Antalgic

Talocalcaneal – heel view showing uparallelism, lateral shows C-sign; CT and 3D CT are indicated in both Abbreviations: ANA, antinuclear antibody; AP, anteroposterior; ASIS, anterior superior iliac spine; CNC, calcaneonavicular coalition; CPK, creatine phosphokinase; CRP, C-reactive protein; CT, computed tomography; EMG, electromyogram; ESR, erythrocyte sedimentation rate; MRI, magnetic resonance imaging; NWB, nonweight bearing; RBC, red blood cell; ROM, range of motion; 3D, three-dimensional; WBC, white blood cell. a Because of idiopathic hemihypertrophy, prior fracture with resulting overgrowth or undergrowth of bone, prior infection, neoplasm, metabolic disorders, or congenital anomalies.

Box 10-1. Causes of Limping in Children Toddler (1–3 y) • Septic arthritis/osteomyelitis/myositis • Diskitis (spine) • Transient synovitis of the hip • Toddler fracture • Neuromuscular disease • Developmental dysplasia of the hip • Inflammatory disorders • Neoplasia (Ewing sarcoma, osteoid osteoma) • Metastatic disease (neuroblastoma, leukemia) Child (4–10 y) • Transient synovitis of the hip • Perthes disease • Discoid meniscus • Lower extremity limb-length discrepancy • Köhler disease of navicular

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Box 10-1. Causes of Limping in Children, continued Adolescent (11–16 y) • Slipped capital femoral epiphysis • Overuse syndromes (apophysitis) • Developmental dysplasia of the hip • Osteochondritis dissecans (knee, ankle) • Freiberg infraction • Tarsal coalition Figure 10-1. Anteroposterior radiographs of the tibia of a 2-year-old with a limp. A, Initial radiograph appears normal. B, Radiograph 4 weeks later demonstrates periosteal reaction (arrow).

Figure 10-2. Anteroposterior radiograph of the pelvis of a 3-year-old child. The child was limping, and the mother reported a leg-length difference. Note the dislocated left hip (developmental dysplasia of the hip).

Figure 10-3. Anteroposterior radiograph of the pelvis of a 13-year-old boy. Right hip shows long-term changes seen in Perthes disease after remodeling with a loss of the round nature of the femoral head.



Chapter 10: The Limping Child: General Approach and Differential Diagnosis

115

Figure 10-4. Anteroposterior standing scanogram radiograph of both lower extremities in an 8-year-old girl demonstrating left leg significantly shorter than right. The difference is evident at the level of knees (blue arrows) and marked at the level of the ankles (black arrows).

Abnormal Gait Patterns ANTALGIC GAIT

•• Limping because of pain •• Characterized by shortened stance phase duration on the affected limb •• Can be caused by pain located in the lower extremity or back. When caused by back pain, the gait is not asymmetrical but slow and cautious with short steps.

•• Commonly caused by trauma or infection •• Physical examination should focus on inspection, palpation, and range of motion to localize the pain source.

TRENDELENBURG GAIT (ABDUCTOR LURCH)

•• Results from weak hip abductors ——Hip abductors are responsible for maintaining a level pelvis during single limb stance.

——Weakness causes the unsupported (contralateral) hip to drop during single

limb stance (positive Trendelenburg sign [see Chapter 4, Physical Examination, Figure 4-24]). ——To compensate, body weight is shifted over the weak hip during stance phase to lateralize the center of gravity. •• Commonly seen in hip disorders (eg, Perthes disease, developmental dysplasia of the hip, congenital coxa vara, slipped capital femoral epiphysis) and neuromuscular conditions. CIRCUMDUCTION

•• Commonly results from a structural or functional limb-length inequality, but may also be seen as a pain avoidance pattern (ie, foot pain)

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Non-Antalgic Gait

Spasticity

No Spasticity

Cerebral Palsy

Idiopathic Toe Walking

Circumduction Gait

Trendelenburg Gait

Toe Walking

AP and Frog Radiograph of the Pelvis

AP Radiograph of Bilateral Lower Extremities

Leg-Length Difference Positive SCFE DDH Perthes

DDH Congenitally Short Femur Congenitally Short Tibia

Positive Leg-Length Difference

Negative Muscular Dystrophy Cerebral Palsy

Negative Cerebral Palsy Knee Stiffness

Figure 10-5. Algorithm for evaluating non-antalgic gait. Abbreviations: AP, anteroposterior; DDH, developmental dysplasia of the hip; SCFE, slipped capital femoral epiphysis.

Antalgic Gait

Infectious-Like

Non-Infectious-Like

Clinical Signs Recent History of Cold, Fever/Chills, Erythema Over Extremity, Ill-appearing

Clinical Signs Recent History of Trauma, No Fever/Chills, Point-tender, Well-appearing

Decreased Range of Motion of Any Joint With Swelling Test: Joint Aspiration

Positive Septic Joint

Laboratory values Elevated C-reactive Protein Elevated White Blood Cells Elevated ESR

Laboratory values Normal C-reactive Protein Normal White Blood Cells Normal ESR

Focused Clinical Examination

Focused Clinical Examination

Focused Pain of Erythema Over an Extremity Test: Plain Radiograph

Negative Transient Synovitis or Juvenile Arthritis

Positive Osteomyelitis

Cannot Focus Examination Test: Bone Scan to Focus Further Evaluation

Negative MRI if Still High Index of Suspicion

Focused Pain Over an Extremity Test: Plain Radiograph

Positive Treat Condition

Cannot Focus Examination Test: Bone Scan to Focus Further Evaluation

Negative MRI if Still High Index of Suspicion

MRI prior to OR for identification of adjacent site infection

Figure 10-6. Algorithm for evaluating antalgic gait. Abbreviations: ESR, erythrocyte sedimentation rate; MRI, magnetic resonance imaging; OR, operating room.



Chapter 10: The Limping Child: General Approach and Differential Diagnosis

117

•• During swing phase, the longer limb circumducts (swings around and to the side) to clear the ground and move forward.

•• May be accompanied by vaulting of the short extremity, which involves early heel rise during stance phase to assist with clearance of the long side in swing phase

STEPPAGE GAIT

•• Increased hip and knee flexion during swing phase to help promote adequate clearance of the foot and ankle

•• May be seen with limb-length inequality or weakness of the ankle dorsiflexors TOE WALKING (EQUINUS GAIT)

•• Initial contact occurs at the forefoot instead of the heel. •• Caused by heel-cord contracture or muscle imbalance about the ankle •• Common causes include cerebral palsy, clubfoot deformity, idiopathic heel-cord contracture, or habitual toe walking.

•• Limb-length discrepancy up to 1 cm is usually not a cause of limping.

Bibliography—Part 4 Achar S, Yamanaka J. Apophysitis and osteochondrosis: common causes of pain in growing bones. Am Fam Physician. 2019;99(10):610–618 Arkader A, Brusalis C, Warner WC Jr, Conway JH, Noonan K. Update in pediatric musculoskeletal infections: when it is, when it isn’t, and what to do. J Am Acad Orthop Surg. 2016;24(9):e112–e121 Aronsson DD, Loder RT, Breur GJ, Weinstein SL. Slipped capital femoral epiphysis: current concepts. J Am Acad Orthop Surg. 2006;14(12):666–679 Beck RJ, Andriacchi TP, Kuo KN, Fermier RW, Galante JO. Changes in the gait patterns of growing children. J Bone Joint Surg Am. 1981;63(9):1452–1457 Davids JR, Bagley AM. Identification of common gait disruption patterns in children with cerebral palsy. J Am Acad Orthop Surg. 2014;22(12):782–790 Early SD, Kay RM, Tolo VT. Childhood diskitis. J Am Acad Orthop Surg. 2003;11(6):413–420 Flynn JM, Widmann RF. The limping child: evaluation and diagnosis. J Am Acad Orthop Surg. 2001;9(2):89–98 Gillespie H. Osteochondroses and apophyseal injuries of the foot in the young athlete. Curr Sports Med Rep. 2010;9(5):265–268 Griswold BG, Sheppard E, Pitts C, Gilbert SR, Khoury JG. The introduction of a preoperative MRI protocol significantly reduces unplanned return to the operating room in the treatment of pediatric osteoarticular infections. J Pediatr Orthop. 2020;40(2):97–102 Guidera KJ, Helal AA, Zuern KA. Management of pediatric limb length inequality. Adv Pediatr. 1995;42:501–543 Herman MJ, Martinek M. The limping child. Pediatr Rev. 2015;36(5):184–195 Herring JA, Tachdjian MO; Texas Scottish Rite Hospital for Children. Tachdjian’s Pediatric Orthopaedics. 4th ed. Philadelphia, PA: Saunders/Elsevier; 2008

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Kaweblum M, Lehman WB, Bash J, Grant AD, Strongwater A. Diagnosis of osteoid osteoma in the child. Orthop Rev. 1993;22(12):1305–1313 Kim HK. Legg-Calvé-Perthes disease. J Am Acad Orthop Surg. 2010;18(11):676–686 Kocher MS, Logan CA, Kramer DE. Discoid lateral meniscus in children: diagnosis, management, and outcomes. J Am Acad Orthop Surg. 2017;25(11):736–743 Kocher MS, Zurakowski D, Kasser JR. Differentiating between septic arthritis and transient synovitis of the hip in children: an evidence-based clinical prediction algorithm. J Bone Joint Surg Am. 1999;81(12):1662–1670 Lovell WW, Weinstein SL, Flynn JM. Lovell and Winter’s Pediatric Orthopaedics. 7th ed. Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins; 2014 Montgomery NI, Rosenfeld S. Pediatric osteoarticular infection update. J Pediatr Orthop. 2015;35(1):74–81 Moraleda L, Gantsoudes GD, Mubarak SJ. C sign: talocalcaneal coalition or flatfoot deformity? J Pediatr Orthop. 2014;34(8):814–819 Mosca VS. Subtalar coalition in pediatrics. Foot Ankle Clin. 2015;20(2):265–281 Naranje S, Kelly DM, Sawyer JR. A systematic approach to the evaluation of a limping child. Am Fam Physician. 2015;92(10):908–916 Perry J, Burnfield JM. Gait Analysis: Normal and Pathological Function. 2nd ed. Thorofare, NJ: SLACK; 2010 Safdar NM, Rigsby CK, Iyer RS, et al; Expert Panel on Pediatric Imaging. ACR Appropriateness Criteria® acutely limping child up to age 5. J Am Coll Radiol. 2018;15(11 suppl):S252–S262 Schmitz MR, Murtha AS, Clohisy JC; ANCHOR Study Group. Developmental dysplasia of the hip in adolescents and young adults. J Am Acad Orthop Surg. 2020;28(3):91–101 Song KM, ed. Orthopaedic Knowledge Update: Pediatrics 4. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2011 Song KM, Halliday SE, Little DG. The effect of limb-length discrepancy on gait. J Bone Joint Surg Am. 1997;79(11):1690–1698 Sutherland DH, Olshen R, Cooper L, Woo SL. The development of mature gait. J Bone Joint Surg Am. 1980;62(3):336–353 Thompson JD. Orthopedic aspects of cerebral palsy. Curr Opin Pediatr. 1994;6(1):94–98 Valderrabano V, Easley M. Foot and Ankle Sports Orthopaedics. Springer; 2016 Weinstein SL. Natural history and treatment outcomes of childhood hip disorders. Clin Orthop Relat Res. 1997;344:227–242 Wenger DR, Pring ME, Pennock AT, Upasani VV, Rang M. Rang’s Children’s Fractures. 4th ed. Philadelphia, PA: Wolters Kluwer Health; 2018.

Part 5: Spinal Deformities TOPICS COVERED 11. Idiopathic Scoliosis and Congenital Scoliosis ............................. 121 Adolescent Idiopathic Scoliosis Early Onset Idiopathic Scoliosis in Infants Early Onset Idiopathic Scoliosis in Juveniles Congenital Scoliosis Neuromuscular Scoliosis 12. Kyphosis ............................................................................... 133 13. Spondylolysis and Spondylolisthesis ......................................... 141



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CHAPTER 11

Idiopathic Scoliosis and Congenital Scoliosis Overview

•• Idiopathic scoliosis is common in children and adolescents and has a prevalence of 2% to 3% in teens and preteens.

•• The etiology is not established; it is considered a multifactorial condition. •• Genetic factors are not clear in assessing the risk of developing idiopathic

scoliosis. ——Approximately 11.1% of patients have a first-degree relative with idiopathic scoliosis. ——The frequency of idiopathic scoliosis in both monozygotic twins is 73% to 92% (but not 100%), compared with 36% to 63% in dizygotic twins. •• Nongenetic intrinsic factors may contribute to development of idiopathic scoliosis. ——Rapid vertebral growth and skeletal immaturity (as curve magnitude increases, vertebral wedging occurs), are factors ——Human verticality of posture plays a role. •• Female-male prevalence ——1:1 for small curves of approximately 10 degrees ——5:1 for curves between 10 and 20 degrees ——10:1 for curves greater than 30 degrees DIFFERENTIAL DIAGNOSIS

•• The typical patient with idiopathic scoliosis is an adolescent girl between 10 and 16 years of age with a thoracic curve having an apex to the right. Any deviation from this typical pattern warrants evaluation for an occult treatable underlying cause. •• When to suspect non-idiopathic scoliosis ——Patients 10 years and younger have a higher incidence of non-idiopathic scoliosis than adolescent patients (early onset scoliosis [EOS]). ——Atypical curve pattern (eg, thoracic curves with an apex to the left have a higher incidence of underlying neurologic cause) ——Sacrum and pelvis included within the curve, resulting in pelvic obliquity ——Associated kyphosis (may suggest a non-idiopathic cause, such as neurofibromatosis) ——Significant pain (idiopathic scoliosis is typically not painful) ——Coexisting medical condition with a known association with scoliosis (eg, neurofibromatosis, connective tissue disorders, congenital heart disease)

121

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• Functional (nonstructural) scoliosis ——Most commonly caused by limb-length discrepancy or muscle spasm (eg, because of herniated intervertebral disk, spondylolysis/spondylolisthesis, diskitis, tumor) or deconditioning (lack of fitness) ——Functional curves are mild without any bony abnormalities. ——Symptoms of underlying condition are present. ——Curve corrects when the underlying problem is resolved.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined based on history, physical examination, and radiographs (thoracolumbar [TL] spine, anteroposterior, and lateral views).

•• Physical examination ——With the patient standing, inspect the shoulders, scapulae, ribs, and waist for asymmetry.

——Palpate the top of the iliac crest, comparing height of right to left. If this reveals

a limb-length discrepancy (which may cause nonstructural scoliosis), the hips and pelvis are made level by placing blocks (or office magazines) under the shorter limb. Once the pelvis is level, inspect the shoulders, scapulae, ribs, and waist for asymmetry (Figure 11-1). •• Perform the Adams forward bend test (Figure 11-2) by asking the patient to bend forward at the waist with knees straight and palms together. Scoliosis is associated with vertebral rotation. Vertebral rotation creates paraspinous asymmetry visible on the forward bend test. Axial rotation should be measured and documented with the use of a scoliometer.

Figure 11-1. The first step in the physical examination of a patient with suspected scoliosis is inspection of the back. In this patient, the pelvis is level but the right hip appears elevated because of the waist asymmetry caused by scoliosis. The right scapula is more prominent than the left, and the right shoulder is slightly elevated compared with the left.

Figure 11-2. Next, have the patient perform the Adams forward bend test. Vertebral rotation associated with scoliosis results in paraspinous rib prominence on the right.



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Figure 11-3. The standard method for measuring scoliosis curve magnitude is referred to as the Cobb technique. Lines are drawn along the end plates of the most tilted vertebrae (a). In a patient with a mild curvature, the end plate lines are almost parallel and do not intersect on the radiographic film, so a second pair of lines (b) are drawn perpendicular to the end plate lines. The angle created by the intersection of perpendicular lines (b) is the curve magnitude (c).

•• If asymmetry is present on the Adams forward bend test and/or the scoliometer

measurement is over 6 to 7 degrees, TL standing anteroposterior and lateral radiographs should be obtained to evaluate and quantify the apparent scoliosis. •• The Cobb technique documents curve magnitude (Figure 11-3). Curves measuring 10 degrees or less are normal, considered spinal asymmetry, and should not be labeled as scoliosis. •• All patients with evidence of scoliosis should undergo a brief neurologic examination consisting of strength testing and deep tendon reflexes. •• Magnetic resonance imaging (MRI) of the spinal cord is indicated in the setting of atypical idiopathic curves (left, nonthoracic), rapidly progressing curves, EOS, and congenital scoliosis, as well as in the presence of neurologic signs of scoliosis.

Adolescent Idiopathic Scoliosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Onset of adolescent idiopathic scoliosis may occur from 11 years of age until skeletal maturity.

•• It is the most common type, representing approximately 89% of idiopathic scoliosis

•• It is more common in girls, with curves greater than 30 degrees especially common in girls (10:1 female-male prevalence).

•• Thoracic curves, apex to the right, are most common.

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•• Curves with apex to the left are more likely to have an underlying unrecognized neurologic cause.

•• Primary risk factors for curve progression ——Female sex ——Skeletal immaturity ——Large curve magnitude at presentation ——Positive family history •• The relationship between patient age, curve magnitude, and the likelihood of curve progression has been demonstrated (Table 11-1).

SIGNS AND SYMPTOMS

•• Shoulder, waistline, or trunk asymmetry may be noted by the patient or parent. •• Initial diagnosis is often determined during an annual physical examination (Box 11-1).

•• Skeletally immature patients are asymptomatic, even when scoliosis is severe. TREATMENT

•• There appears to be increasing intolerance of the cosmetic deformity associated with scoliosis.

•• The goal of the treating physician is to identify those patients at risk of curve

progression and in those patients do as little as possible but as much as necessary to alter the natural history and prevent the undesirable consequence of untreated disease.

Table 11-1. Probability of Curve Progression: The Relationship Between Curve Magnitude and Age Age in Years

Curve Magnitude (degrees)

10–12

13–15

≥ 16

 59

100%

90%

70%

Data generated by Scoliosis Research Society.

Box 11-1. Screening for Scoliosis Adolescent female patients 10 to 14 years of age should be evaluated for scoliosis as part of the general physical examination. School screening programs have been instituted in many areas but are no longer required in most states as recommended by the US Preventive Services Task Force. School screening typically results in a referral rate of approximately 2 to 3 per 100 children screened, considerably higher than the 0.5% prevalence of scoliosis greater than 20 degrees that may benefit from active treatment.



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•• Observation ——If spinal curvature measures less than 10 degrees, no scheduled follow-up is

necessary beyond routine annual physical examinations with the primary care professional. ——Skeletally immature patients with mild curve magnitude between 10 and 25 degrees require monitoring with clinical evaluation and radiography. „„In young patients with significant growth remaining and a curvature approaching 25 degrees, the follow-up interval is 4 to 6 months. „„In older patients and those with a curve closer to 10 degrees, the follow-up interval is 6 to 12 months. •• Bracing ——Skeletally immature patients with moderate curve magnitude between 25 and approximately 40 degrees require brace treatment (Figure 11-4). ——Studies have demonstrated that brace treatment will change the natural history of idiopathic scoliosis, reducing the likelihood of progression when compared with no treatment. ——The goal of brace treatment is to prevent progression; there is little evidence that bracing corrects the curvature.

Figure 11-4. This skeletally immature patient has documented curve progression to 27 degrees (A). In the scoliosis brace, her flexible curvature corrects completely (B). Such an excellent initial response to brace treatment is associated with a favorable prognosis that curve progression and surgery can be prevented.

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——Currently, little controversy exists regarding brace treatment, the optimal

number of hours a brace should be worn each day, and that the brace should be worn until skeletal maturity and then may be discontinued. ——Compelling evidence suggests a dose-related brace effect. The more hours a brace is worn, the greater the beneficial effect, up to 18 hours. ——Bracing is typically continued until skeletal maturity, which is confirmed by lack of growth documented on serial height measurements, or radiographic evidence. ——A successful bracing program includes a skilled orthotist (Figure 11-5) and an empathetic health care professional to support patients and their families through the periodic brace adjustments necessitated by growth and the psychosocial aspects of brace treatment. ——Flexibility of brace wear hours is important to allow participation in sports or other extracurricular activities, to maintain good mental health, and to improve patient adherence to the bracing program. •• Other nonoperative treatments ——There is no high-level medical evidence that treatments such as physical therapy, electrical stimulation, or chiropractic manipulation change the natural history of scoliosis when compared with no treatment at all. •• Surgical treatment ——Indicated for patients with severe curve magnitude (greater than 45–50 degrees). At 45 to 50 degrees, brace treatment is no longer effective, and the untreated natural history is associated with poor outcome as a result of cardiopulmonary problems, back pain, and dissatisfaction with appearance or self-image. ——The rationale for surgery is to achieve a stable, well-balanced, painless spine while eliminating the risk of future progression and its associated consequences. ——Surgery involves correction with implants to reduce the deformity as well as arthrodesis or fusion of the instrumented vertebrae to permanently preserve the correction. “Fusionless” surgical treatment methods are currently undergoing investigation. Figure 11-5. A skilled orthotist and assistant shape plaster around the torso of a scoliosis patient to create a mold for a custom brace. The brace applies corrective force to the spine through the ribs and paraspinous muscles. A seamless garment is worn beneath the brace, which is then worn beneath the patient’s clothes.



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EXPECTED OUTCOMES/PROGNOSIS

•• In a 38-year follow-up study of 130 patients with untreated idiopathic scoliosis,

the risk of mortality associated with idiopathic scoliosis approached that of the general population. •• Untreated patients with idiopathic scoliosis at the University of Iowa reported an increased incidence in back pain compared with a control group that did not have scoliosis (37% of patients reported constant backache). They also reported an increase in psychological and cosmetic concerns. •• As curve magnitude increases, vital lung capacity and forced expiratory volume decrease. •• A measurable decrease in pulmonary function occurs for thoracic curves in the 50to 60-degree range, with a reduction of approximately 20% from normal; as curve magnitude approaches 100 degrees, the pulmonary function decline is severe. WHEN TO REFER

•• There are no uniform and simple referral guidelines that apply to all scoliosis patients of all ages.

•• As a general rule, patients with curves less than 20 degrees may be observed by a primary care physician.

•• Refer the following to a pediatric orthopaedic specialist with expertise in caring

for spine deformities: ——Patients with curves greater than 20 degrees „„ Virtually all scoliosis patients who benefit from active treatment have a curve magnitude greater than 20 degrees. ——Any patient with neurologic signs or symptoms ——Patients who present with a non-classic idiopathic scoliosis profile (eg, adolescent female with a painless apex right thoracic curve) •• Consider the decision to refer in context of the physician’s experience, clinical practice setting, and circumstances. •• Referral is also appropriate for patients with scoliosis presenting with findings that are outside a primary care physician’s ability to comfortably evaluate and treat.

Early Onset Idiopathic Scoliosis in Infants INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Infantile idiopathic scoliosis has its onset at 3 years or younger. •• It represents only 1% of idiopathic scoliosis. •• There is a male predominance of 3:2. •• Up to 90% of infantile curves resolve spontaneously, suggesting maternal constraint of the fetus.

•• Occasionally, infantile scoliosis results from a spinal abnormality such as Chiari malformation or tumor.

SIGNS AND SYMPTOMS

•• Painless deformity

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•• Curve apex is to the left in approximately 90% of patients. •• Often associated with plagiocephaly or hip dysplasia. TREATMENT

•• Observation ——For curves less than 20 degrees •• Bracing ——For curves greater than 25 degrees •• Surgical treatment ——Indicated for progressive curves greater than 40 degrees EXPECTED OUTCOMES/PROGNOSIS

•• Up to 90% of infantile curves resolve spontaneously. •• Those whose curves progress are a treatment challenge with the potential to sustain permanent deformity and pulmonary compromise.

WHEN TO REFER

•• Refer all infants with curves greater than 20 degrees to an orthopaedic specialist.

Early Onset Idiopathic Scoliosis in Juveniles INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Juvenile idiopathic scoliosis has its onset from 4 to 10 years of age. •• It represents 10% of idiopathic scoliosis. •• A male predominance (1.6:1) is seen in patients younger than 6 years. •• A female predominance (2.7:1) is seen in patients 6 to 10 years of age. •• Twenty percent to 25% of curves greater than 20 degrees are associated with a spinal abnormality such as Chiari malformation or tumor.

SIGNS AND SYMPTOMS

•• Painless deformity •• In patients younger than 6 years, left-sided curves predominate. •• In patients 6 to 10 years of age, right-sided curves predominate. TREATMENT

•• Observation ——If the curve is mild (< 20 degrees), typical, and not progressive, and simple neurologic evaluation is unremarkable, observation is appropriate.

——If the curve progresses beyond 20 degrees, MRI of the entire spine is indicated to evaluate for possible central neural axis abnormality.

•• Bracing ——Indicated for curves between 20 and 40 degrees



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•• Surgical treatment ——Recommended for curves greater than 40 degrees EXPECTED OUTCOMES/PROGNOSIS

•• Juvenile scoliosis is rarely self-limiting and progresses at a rate of 1 to 3 degrees per year until age 10 years, when more rapid progression frequently occurs.

WHEN TO REFER

•• Refer all patients with juvenile idiopathic scoliosis to a pediatric orthopaedic specialist.

Congenital Scoliosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Congenital scoliosis is a failure of vertebrae to develop normally during

embryogenesis (Figure 11-6). ——Failure of formation results in a hemivertebrae. ——Failure of segmentation leads to a bar or fusion between vertebrae, causing a tether on one side of the spine resulting in asymmetric growth. •• Congenital scoliosis occurs in many different patterns and combinations. Figure 11-6. A 2-year-old boy with congenital hemivertebrae who reported back pain in the mid-thoracic area because of muscle spasm. From Brenner JS, Smith DV. Back pain. Pediatric Care Online. Updated 2017. Accessed September 22, 2020. https://pediatriccare. solutions.aap.org/chapter.aspx?sectionid=1 07998201&bookid=1626. Courtesy of Edgar O. Ledbetter, MD, FAAP.

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SIGNS AND SYMPTOMS

•• Painless spinal asymmetry •• The patient with congenital scoliosis has a significant association of congenital cardiac (12%) and genitourinary (20%) abnormalities.

•• There is a higher incidence of spinal cord abnormality with congenital scoliosis than with idiopathic scoliosis.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined based on history, physical examination, and radiographs.

•• Radiographs demonstrate hemivertebrae or fusions. •• MRI of the spinal cord is indicated if there are any neurologic signs or symptoms.

•• Renal ultrasonography should be performed on diagnosis to evaluate for associated genitourinary abnormalities.

•• Echocardiography should be performed on diagnosis to evaluate for congenital heart defects.

TREATMENT

•• Treatment consists of observation or surgery. •• Bracing is rarely effective for congenital scoliosis; however, a brace may be used to treat a compensatory curve in the adjacent normal spine.

•• Treatment choice depends on the rate of progression, curve location, and curve pattern.

•• Observation includes radiographs at 6-month intervals during the first 3

years after birth and during the pubertal growth spurt to evaluate rate of progression. •• Surgical indications ——Progressive curves with evidence of failure of formation or segmentation ——Curves approaching 40 degrees in a skeletally immature patient ——Curves greater than 50 degrees in a skeletally mature patient EXPECTED OUTCOMES/PROGNOSIS

•• Like idiopathic scoliosis, congenital scoliosis is at greatest risk of progression during adolescent growth spurts.

•• A hemivertebrae (extra growth) paired with a contralateral bar (reduced growth) is a pattern that has the highest risk of progression.

•• Other patterns are not predictable and may never progress, requiring only periodic surveillance until skeletal maturity.

WHEN TO REFER

•• Refer all patients with congenital scoliosis approaching 20 degrees to a pediatric orthopaedic surgeon.



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Neuromuscular Scoliosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Neuromuscular scoliosis is caused by a wide variety of neuromuscular disorders, including cerebral palsy, myelodysplasia, muscular dystrophy, spinal muscle atrophy, and Friedreich ataxia, among others.

SIGNS AND SYMPTOMS

•• Neuromuscular scoliosis appears as a long, sweeping, C-shaped curve. •• In contrast with idiopathic scoliosis, in which the sacrum and pelvis are not part

of the curvature, in neuromuscular scoliosis the sacrum and pelvis are frequently included within the curve, resulting in pelvic obliquity (Figure 11-7).

TREATMENT

•• Nonoperative treatment ——Nonsurgical interventions are not effective at preventing scoliosis progression. ——The primary goal of nonoperative treatment is to preserve function. ——The two main treatment options are wheelchair modification and bracing. Figure 11-7. The long, sweeping C shape of neuromuscular scoliosis.

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——Brace treatment is a reasonable option if the physician and parent have shared, realistic expectations and are prepared for potential problems.

•• Surgical treatment ——Indications for surgical treatment vary depending on the underlying

neuromuscular diagnosis, curve magnitude, coexisting medical conditions, and other factors. ——Patients with Duchenne muscular dystrophy „„Tend to develop a rapidly progressive curvature in early adolescence, which leads to restrictive lung disease, increasing the risk of pulmonary complications following surgery. „„Indications for surgery include a progressive curvature above 30 degrees after patients become nonambulatory. ——Patients with cerebral palsy „„Indications for surgery include curve progression above 40 degrees associated with pelvic obliquity, sitting difficulty, or truncal imbalance.

EXPECTED OUTCOMES/PROGNOSIS

•• As in idiopathic and congenital scoliosis, the adolescent growth period is the time during which the risk of curve progression is greatest.

•• Natural history of scoliosis is also influenced by the underlying neuromuscular

disorder. ——Scoliosis associated with progressive disorders such as muscular dystrophy follows a relentlessly progressive course. •• Across all diagnoses, patients with neuromuscular scoliosis have notable functional problems. ——Curve progression resulting in pelvic obliquity increases the difficulty of sitting. Comfortable, balanced sitting is important because the child may be nonambulatory and may depend on comfortable sitting posture for mobility and function. ——Progressive neuromuscular scoliosis causes significant trunk imbalance, which requires use of one or both upper extremities to support sitting, limiting the functional use of the arms. •• Medical problems associated with the underlying neuromuscular diagnosis may complicate scoliosis management—gastroesophageal reflux, malnutrition, restrictive lung disease, and cardiomyopathy. WHEN TO REFER

•• Refer all patients with neuromuscular scoliosis to a pediatric orthopaedic surgeon for management.

CHAPTER 12

Kyphosis Introduction/Etiology/Epidemiology

•• Normal thoracic kyphosis is a normal rounding of the upper back of 20 to 45 degrees.

•• Thoracic hyperkyphosis, clinically referred to as “kyphosis,” involves curvature greater than 50 degrees.

•• Unlike scoliosis, kyphosis is not associated with rotational abnormalities. ——Scoliosis with kyphosis is referred to as kyphoscoliosis. •• Kyphosis may be postural, structural, or congenital. ——Postural kyphosis of the thoracic or thoracolumbar spine is a common cause of kyphosis among teens and preteens. greater than 50 degrees „„Usually associated with a growth spurt „„Normal vertebral and disk anatomy without any significant wedging of vertebral body „„Considered a normal variant or related to deconditioning ——Structural kyphosis in otherwise healthy teens and preteens is most commonly caused by Scheuermann disease/kyphosis. „„Anterior wedging of vertebral body of more than 5 degrees over 3 or more consecutive levels „„Classically involves the thoracic spine but may also occur in the thoracolumbar or lumbar spine „„More common in boys than girls „„Seen in 0.4% to 10% of the population ——Congenital kyphosis can occur anywhere in the spine and is associated with congenital vertebral anomalies present since birth. „„Can be progressive: growth spurts can lead to rapid progression „„There can be large variation in curve severity. „„There can be sharp, angular deformities and potential for neurologic compromise. „„Kyphosis

Signs and Symptoms

•• General features may include the following: ——Rounded shoulders ——Head leaning forward compared to body ——Visible hump ——Tight hamstrings (deconditioning) ——Stiffness

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•• Postural kyphosis ——Most often asymptomatic and presents as a cosmetic concern „„May

be associated with activity-related back pain or pain after prolonged sitting ——Parents often bring in the child with reports of slouching or poor posture •• Scheuermann kyphosis ——More frequently causes pain „„Pain usually at apex of the deformity „„Low back pain can result from compensation for the thoracic deformity. ——There is often a family history of similar deformity. ——Often present during teenaged years and can progress rapidly during skeletal growth •• Congenital kyphosis ——Present at birth: varying degrees of severity ——Can be asymptomatic despite severity ——Presenting symptoms can include pain and neurologic dysfunction.

Differential Diagnosis

•• Metabolic conditions leading to poor bone quality •• Neuromuscular conditions (check Gowers sign if there is concern for weakness) •• Tumor •• Postural kyphosis (roundback) •• Scheuermann kyphosis •• Congenital kyphosis

Diagnostic Considerations

•• Postural kyphosis ——Diagnosis is determined based on physical examination. ——Kyphosis is flexible and can be consciously corrected. „„Corrects

with asking patient to stand up straight

——Forward bending demonstrates a smooth kyphotic curvature (Figure 12-1, A).

——Radiographs show kyphosis without anterior vertebral body wedging (Figure 12-2, A).

•• Scheuermann kyphosis ——Kyphosis cannot be consciously corrected. ——Forward bending demonstrates a sharp, angular kyphotic curvature (Figure 12-1, B).

——Diagnosis is determined based on a standing lateral radiograph of the entire spine.

——Radiographic findings (Figure 12-2, B) „„Greater

than 50 degrees of kyphosis as measured by Cobb technique vertebral body wedging (> 5 degrees in at least 3 consecutive vertebrae)

„„Characteristic



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Figure 12-1. Adams forward bend test. Although when a patient is standing, postural kyphosis and Scheuermann kyphosis may appear similar, when asked to bend forward and viewed from the side a patient with postural kyphosis will have a normal smooth contour (arrow) (A) while a patient with Scheuermann kyphosis will have a sharp, angular appearance (arrow) (B). Reproduced with permission of Children’s Orthopaedic Center, Children’s Hospital of Los Angeles.

„„End

plate abnormalities nodes may be present. •• Congenital kyphosis ——Physical examination findings are variable based on severity of deformity. „„Normal to sharp angular rigid curve (Figure 12-3) ——Diagnosis is determined based on a standing thoracolumbar lateral radiograph of the entire spine (Figure 12-4). „„Often, other congenital vertebral anomalies are present. ——Kyphosis can be extremely rigid. ——Requires magnetic resonance imaging of the spine to rule out neural axis abnormalities „„Can be present in 20% to 40% of patients with suspected congenital kyphosis ——Associated systemic anomalies are seen in up to 61% of patients with congenital kyphosis. „„Genitourinary abnormalities, which are present in 20% of patients, should prompt screening renal ultrasonography. „„Cardiac abnormality, which is present in 25% of patients, should prompt formal cardiac evaluation or echocardiography. „„Schmorl

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Figure 12-2. Lateral radiographs also illustrate the difference between postural kyphosis, in which the shape of the vertebral bodies is normal (A), and Scheuermann kyphosis, in which the vertebral bodies demonstrate wedging and end plate irregularities/Schmorl nodes (B). Straight lines indicate the kyphosis measured region; arrows in B indicate areas of vertebral wedging. Reproduced with permission of Children’s Orthopaedic Center, Children’s Hospital of Los Angeles.

Treatment

•• Postural kyphosis ——Observation, if the patient is asymptomatic ——Physical therapy to strengthen postural muscles if back pain is present „„Hyperextension

exercises over the apex of kyphosis

——Occasionally, a soft brace may be used.



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Figure 12-3. Adams forward bend test in a patient with congenital thoracolumbar kyphosis shows a rigid sharp, angular kyphosis. Reproduced with permission of Children’s Orthopaedic Center, Children’s Hospital of Los Angeles.

Figure 12-4. Lateral radiograph of the spine from a patient with severe thoracolumbar congenital kyphosis; straight lines indicate the kyphosis measured region (A). Sagittal T2-weighted magnetic resonance image demonstrates spinal cord compression over the apex of the deformity (arrow) (B). Three-dimensional computed tomography reconstruction shows congenital fusion at the thoracolumbar junction resulting in the severe congenital kyphosis (C). Reproduced with permission of Children’s Orthopaedic Center, Children’s Hospital of Los Angeles.

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•• Scheuermann kyphosis ——Physical therapy and/or bracing are indicated for moderate deformities. „„Moderate

deformity: 50 to 80 degrees with antikyphosis thoracolumbosacral orthosis is typically only used if patient is skeletally immature ™™ Bracing is aimed at preventing deformity progression and is usually implemented until skeletal maturity. ™™ Effect of bracing treatment on the natural history and progression of disease remains unknown ——Nonsteroidal anti-inflammatory drugs may also be used to manage pain. ——Surgery is rarely indicated for Scheuermann kyphosis. „„When the kyphosis is severe (> 70 degrees) and/or symptomatic, spinal fusion may be considered (Figure 12-5). •• Congenital kyphosis ——Treatment varies from observation to surgery. ——Observation is preferred for small, nonprogressive curves. ——Bracing is typically ineffective with congenital deformities. ——Surgery is required for moderate to large curves that are progressive. ——Curves that are associated with neurologic compromise require urgent or emergent intervention. „„Bracing

Figure 12-5. Radiographs from a 19-year-old with severe Scheuermann kyphosis of 95 degrees (A) who underwent posterior spinal fusion with instrumentation and experienced marked improvement in back pain (B). Reproduced with permission of Children’s Orthopaedic Center, Children’s Hospital of Los Angeles.



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Expected Outcomes/Prognosis

•• Postural kyphosis ——Does not lead to permanent deformity, is not progressive, and is reversible ——Pain, if present, typically responds to conservative treatment. •• Scheuermann kyphosis ——Surgery is rarely indicated. ——Pain usually responds to conservative treatment. ——Rarely, severe curves (> 100 degrees) can lead to cardiopulmonary

compromise. •• Congenital kyphosis ——Expected outcomes and prognosis depend on the location and severity of kyphosis. „„Outcomes range from no treatment needed to complex posterior spinal fusion and instrumentation. ——Untreated large, progressive curves can result in neurologic deterioration if not evaluated and treated in a timely fashion.

When to Refer

•• Refer to an orthopaedic surgeon for the following: ——Symptomatic postural kyphosis ——Scheuermann kyphosis > 50 degrees (severe) ——All cases of congenital kyphosis.

CHAPTER 13

Spondylolysis and Spondylolisthesis Introduction/Etiology/Epidemiology

•• Spondylolysis and spondylolisthesis are common causes of low back pain in children and adolescents.

•• Spondylolysis (common) ——Most commonly an acquired condition caused by repetitive hyperextension of the lumbar spine resulting in a stress reaction or fracture of the pars interarticularis (area between the facet joints in the posterior portion of the vertebrae) of the vertebral neural arch. ——L5 vertebra is most commonly affected, followed by L4, and rarely L1-L3 ——Rarely seen before age 5 years and then gradually increases to the adult prevalence of 4% to 6% by age 20 years ——More common in males than females (6:1) ——More common in those participating in certain sports that require hyperextension and loading of the spine (eg, gymnastics, diving, American tackle football [lineman position], weight lifting, soccer, volleyball, softball pitching, wrestling) ——Prevalence is up to 35% in pediatric athletes and from 2% to 6% in nonathletes. •• Spondylolisthesis (less common) ——Forward translation (slip) of one vertebra on the adjacent caudal vertebra ——Most frequently seen between L5 and S1, but can occur at more cranial levels ——Etiology falls into 1 of 6 broad categories (Box 13-1). ——Severity is graded by the Meyerding classification, taking into account the percentage of forward slippage (Figure 13-1). „„Grade 1: less than 25% of the vertebral body width „„Grade 2: between 25% and 50% „„Grade 3: between 50% and 75% „„Grade 4: between 75% and 100% „„The term spondyloptosis is used when the posterior aspect of the cranial vertebral level “falls off ” the anterior aspect of the inferior vertebral body.

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Box 13-1. Wiltse Classification of Spondylolisthesis According to Etiology I. Dysplastic: Congenital elongation of the pars II. Isthmic IIA.  Disruption of pars as a result of stress fracture IIB.  Elongation of pars without disruption (repeated healed microfractures) IIC.  Acute fracture through pars (rare) III. Degenerative: Caused by facet joint arthritic changes IV. Traumatic: Fracture in an area of the posterior vertebral arch other than the pars V. Pathologic: Pars defect secondary to infectious or neoplastic process

L5 25

%

S1

50 %

Figure 13-1. In the Meyerding classification, severity is graded by the amount of vertebral slip. As indicated by arrow, this image depicts a grade 3 slip (50%–75%).

75 %

Grade 3 Slip

Signs and Symptoms

•• Starts as activity-related back pain, but can progress to constant discomfort ——Worse with extension; in early stage can be relieved with flexion, but in later stages even flexion can elicit pain

——Occasional radiation to the buttock or posterior thigh

•• Paraspinal tenderness and spasms •• Tight hamstrings and hip flexors, and deconditioning •• Limited lumbar mobility ——Extension is limited by pain; as a result, patients often adopt a standing posture of slight lumbar flexion.

——Forward flexion can be limited because of the extremely tight hamstrings but is typically not painful.

•• Positive single-leg extension test (Stork test) •• Positive straight-leg raise and weakness, particularly of the extensor hallucis

longus (L5) and the peroneal muscles (S1), may identify nerve root impingement, which can occur with spondylolysis but also may indicate disk herniation.



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•• Rarely, patients present with cauda equina syndrome (radicular symptoms, or

sacral anesthesia and bowel and bladder dysfunction, but with normal sensory, motor, and deep tendon reflexes on examination of lower extremities). ——Usually associated with a high-grade slip (> 50%) or dysplastic type (Box 13-1)

Differential Diagnosis

•• Lumbar muscle strain •• Lumbar disk herniation •• Facet joint arthropathy •• Sacroiliac joint dysfunction or sacroiliitis •• Lumbar diskitis

Diagnostic Considerations •• Imaging is required for diagnosis. ——Radiography „„For

a child or adolescent presenting with back pain, standing anteroposterior and lateral views of the lumbar spine and spot lateral radiograph of L5-S1 „„Additional images—standing right and left oblique views—may be helpful for identifying a unilateral pars defect, but add radiation exposure „„In patients with spondylolysis, the pars defect has been described as having the appearance of a collar on a Scotty dog (Scotty dog sign) on the oblique view (Figure 13-2). „„The spot lateral is the most sensitive view and is also important in quantifying the amount of forward displacement of L5 on S1 (Figure 13-3). ——Magnetic resonance imaging (MRI) „„Preferred imaging to evaluate for spondylolysis, especially in early stages; shows high signal changes in pars on T2-weighted and/or short tau inversion recovery (commonly known as STIR) images (Figure 13-4). „„Also helpful for evaluating nerve root compression, disk abnormalities, and stenosis, or for ruling out other sources of back pain, such as tumor or infection, especially in cases with higher grade slips „„Not as useful for imaging chronic pars defects or evaluating bony healing of pars stress fractures ——Thin-cut computed tomography scan of L5-S1 „„Delineates bony morphology better than radiography or MRI „„Helpful to assess healing or to determine if the spondylolysis is chronic (Figure 13-5) „„Radiation exposure is twice as high as with 2 radiographs. ——Single-photon emission computed tomography (SPECT) bone scan „„SPECT is no longer routinely used for evaluation of spondylolysis due to high level of radiation and advances in MRI techniques that afford higher sensitivity for detecting spondylolysis.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 13-2. Scotty dog with a collar. From Smith JA, Hu SS. Management of spondylolysis and spondylolisthesis in the pediatric and adolescent population. Orthopedic Clinics of North America. 1999;30(3):487–499, ix. Copyright © 1999, Elsevier, with permission.

Figure 13-3. Spot lateral radiograph of a Meyerding grade 2 to 3 spondylolisthesis at the lumbosacral junction (arrow). From Sarwark JF, ed. Essentials of Musculoskeletal Care. 4th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2010. Reproduced with permission.

Treatment

•• The asymptomatic patient does not require treatment unless the slippage is greater than 50% (Meyerding grade 3 or higher).

•• Most children and adolescents presenting with symptomatic spondylolysis or spondylolisthesis can be managed nonoperatively.

•• Nonoperative treatment ——Acute spondylolysis (positive bone marrow edema on MRI) „„The

goal in cases of normal radiographs and a stress reaction of the pars (edema but no fracture line) diagnosed via MRI is to try to prevent progression to a fracture and fibrous union (chronic spondylolysis). „„Activity modification is essential. Patients should avoid impact activities such as running and jumping and avoid lumbar hyperextension for a minimum of 10 to 12 weeks and until asymptomatic. This usually requires complete rest from the sport.



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Figure 13-4. Magnetic resonance image of the lumbar spine demonstrating increased STIR signal at L5 pars.

Figure 13-5. Computed tomography scan bone window images: (A) Axial sections showing a bilateral break in the pars interarticularis (arrows). (B) Sagittal reconstructed image of the same patient showing a break of the pars interarticularis at the L5 level (arrow). From Khan SA, Sattar A, Khanzada U, Adel H, Adil SO, Hussain M. Fracture of the pars interarticularis with or without spondylolisthesis in an adult population in a developing country: evaluation by multidetector c­ omputed tomography. Asian Spine J. 2017;11(3):437–443. „„For

patients with pain during activities of daily living, full-time bracing (23 hours per day) with a custom-fitted rigid lumbosacral orthosis (LSO) (Figure 13-6) can reduce symptoms and may facilitate healing. Bracing is commonly utilized for 4 to 8 weeks, until there is no longer pain with lumbar extension. „„All patients should begin a supervised physical therapy (PT) program consisting of progressive abdominal, core, and hip strengthening; stretching of the lumbodorsal and hamstring muscles; and maintenance of aerobic fitness using a stationary bike. ™™ PT can be started even if LSO is being prescribed. However, the brace should be removed for PT exercises. ™™ Initially, the PT exercises are performed with the spine in neutral position, but can advance as tolerated to include flexion, rotation, and extension once the patient is pain-free with these motions. ™™ After 10 to 12 weeks of PT, the patient can gradually resume running, jumping, and other sports-specific activities as long as these are pain-free, with close monitoring for symptom recurrence.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 13-6. Custom-molded plastic lumbosacral orthosis.

„„Return

to full participation in sports and activities is possible when pain is resolved, physical examination findings are normal, and core strength is adequate. This usually takes 3 to 4 months. ——Chronic spondylolysis (established nonunion of the pars interarticularis) „„Management focuses on pain reduction and return to function. „„Relative rest (avoiding only activities that cause pain), bracing as needed for symptom relief, and physical therapy to address any strength or flexibility deficits ——Spondylolisthesis (slip  50%) „„Nonoperative management is rarely successful; refer skeletally immature patients for surgical management. •• Surgical treatment ——Reserved for „„Slippage (listhesis) of greater than 50% on initial evaluation or grade 1 to 2 slippage with persisting neurologic involvement „„The rare patient with uncontrolled pain after at least 6 months of nonoperative management ——Direct surgical repair of the pars defect at L4 or L3 can be attempted using a variety of methods.



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——The reference standard surgery is an instrumented, bilateral posterolateral fusion.

„„For

symptomatic spondylolysis or grade 1 or 2 slip, fusion is from L5 to S1. higher grade slips, L4 is included. ——Reduction of the spondylolisthesis at surgery is controversial. „„The goal of reduction is to restore spinal pelvic balance; there is a substantial neurologic risk for reduction of the listhesis. „„Surgeons advocate partial reduction, which mitigates the neurologic risk while allowing significant improvement in the patient’s posture. ——Surgical fusion results in high levels of patient satisfaction. ——Return to full participation in sports and activities after surgery usually takes 6 to 8 months. „„For

Expected Outcomes/Prognosis

•• The natural history of spondylolysis and low-grade spondylolisthesis is a benign

course. Some patients may have recurrent episodes of low back pain and discomfort, but these are typically mild and infrequent. •• After proper treatment, almost all patients are able to return to their previous level of sports and activities. •• There is no evidence that participation in sports increases the risk for slip progression. •• Less than 5% of patients may have persistent low back pain or sports-related back pain. •• Early diagnosis and treatment may improve outcomes. •• Bilateral involvement may take longer to resolve than unilateral involvement.

Prevention

•• Maintaining adequate core strength and hamstring flexibility may reduce the risk for recurrent pain after treatment of spondylolysis or spondylolisthesis.

•• During the preparticipation physical evaluation, the need for core strengthening or hamstring flexibility exercises can be assessed.

When to Refer

•• Refer to a sports medicine physician in cases involving ——Persistent low back pain ——Sports-related back pain ——Pain with hyperextension on physical exertion ——Evidence of spondylolysis or spondylolisthesis on radiographs or MRI „„Athletes

with spondylolysis or low-grade spondylolisthesis can benefit from consultation with a sports medicine physician who can provide guidance on sports-specific activity modifications during the acute period, prescribe and monitor response to physical therapy, and provide clearance for full return to sport.

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•• Refer to an orthopaedic surgeon in cases involving ——High-grade slips (> 50%) ——Persistent pain after 6 months of nonoperative management

Resources for Physicians and Families

•• Spondylolysis and Spondylolisthesis (web page), American Academy of Orthopaedic Surgeons. https://orthoinfo.aaos.org/en/diseases--conditions/spondylolysis-andspondylolisthesis •• Spondylolysis & Spondylolisthesis (web page), Pediatric Orthopaedic Society of North America. https://orthokids.org/Condition/Spondylolysis-Spondylolisthesis •• Spondylolisthesis (web page), Medline Plus. https://medlineplus.gov/ency/ article/001260.htm

Bibliography—Part 5 Adams W. Lectures on Pathology and Treatment of Lateral and Other Forms of Curvature of the Spine. London, England: Churchill Livingston; 1865 Albanese M, Pizzutillo PD. Family study of spondylolysis and spondylolisthesis. J Pediatr Orthop. 1982;2(5):496–499 Anderson K, Sarwark JF, Conway JJ, Logue ES, Schafer MF. Quantitative assessment with SPECT imaging of stress injuries of the pars interarticularis and response to bracing. J Pediatr Orthop. 2000;20(1):28–33 Auerbach JD, Ahn J, Zgonis MH, Reddy SC, Ecker ML, Flynn JM. Streamlining the evaluation of low back pain in children. Clin Orthop Relat Res. 2008;466(8):1971–1977 Basu PS, Elsebaie H, Noordeen MH. Congenital spinal deformity: a comprehensive assessment at presentation. Spine (Phila Pa 1976). 2002;27(20):2255–2259 Beck NA, Miller R, Baldwin K, et al. Do oblique views add value in the diagnosis of spondylolysis in adolescents? J Bone Joint Surg Am. 2013;95(10):e65 Bellah RD, Summerville DA, Treves ST, Micheli LJ. Low-back pain in adolescent athletes: detection of stress injury to the pars interarticularis with SPECT. Radiology. 1991;180(2):509–512 Berger RG, Doyle SM. Spondylolysis 2019 update. Curr Opin Pediatr. 2019;31(1):61–68 Beutler WJ, Fredrickson BE, Murtland A, Sweeney CA, Grant WD, Baker D. The natural history of spondylolysis and spondylolisthesis: 45-year follow-up evaluation. Spine (Phila Pa 1976). 2003;28(10):1027–1035 Blanda J, Bethem D, Moats W, Lew M. Defects of pars interarticularis in athletes: a protocol for nonoperative treatment. J Spinal Disord. 1993;6(5):406–411 Boxall D, Bradford DS, Winter RB, Moe JH. Management of severe spondylolisthesis in children and adolescents. J Bone Joint Surg Am. 1979;61(4):479–495 Brooks HL, Azen SP, Gerberg E, Brooks R, Chan L. Scoliosis: a prospective epidemiological study. J Bone Joint Surg Am. 1975;57(7):968–972 Campos MA, Weinstein SL. Pediatric scoliosis and kyphosis. Neurosurg Clin N Am. 2007;18(3): 515–529 Cobb JR. Outline for the study of scoliosis. Instr Course Lect. 1948;5:261–275 Congeni J, McCulloch J, Swanson K. Lumbar spondylolysis. A study of natural progression in athletes. Am J Sports Med. 1997;25(2):248–253



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Crawford CH III, Ledonio CGT, Bess RS, et al. Current evidence regarding the etiology, prevalence, natural history, and prognosis of pediatric lumbar spondylolysis: a report from the Scoliosis Research Society Evidence-Based Medicine Committee. Spine Deform. 2015;3(1):12–29 El Rassi G, Takemitsu M, Woratanarat P, Shah SA. Lumbar spondylolysis in pediatric and adolescent soccer players. Am J Sports Med. 2005;33(11):1688–1693 Fredrickson BE, Baker D, McHolick WJ, Yuan HA, Lubicky JP. The natural history of spondylolysis and spondylolisthesis. J Bone Joint Surg Am. 1984;66(5):699–707 Harris IE, Weinstein SL. Long-term follow-up of patients with grade-III and IV spondylolisthesis. Treatment with and without posterior fusion. J Bone Joint Surg Am. 1987;69(7):960–969 Kesling KL, Reinker KA. Scoliosis in twins. A meta-analysis of the literature and report of six cases. Spine (Phila Pa 1976). 1997;22(17):2009–2014 Lamberg T, Remes V, Helenius I, Schlenzka D, Seitsalo S, Poussa M. Uninstrumented in situ fusion for high-grade childhood and adolescent isthmic spondylolisthesis: long-term outcome. J Bone Joint Surg Am. 2007;89(3):512–518 Lonstein JE, Winter RB. The Milwaukee brace for the treatment of adolescent idiopathic scoliosis. A review of one thousand and twenty patients. J Bone Joint Surg Am. 1994;76(8):1207–1221 Marchetti PG, Bartolozzi P. Classification of spondylolisthesis as a guideline for treatment. In: Bridwell KH, DeWald RL, eds. The Textbook of Spinal Surgery. 2nd ed. Philadelphia, PA: LippincottRaven; 1997:1211–1254 Meyerding HW. Spondylolisthesis. Surg Gynecol Obstet. 1932;54:371–377 Micheli LJ. Back injuries in dancers. Clin Sports Med. 1983;2(3):473–484 Micheli LJ. Back injuries in gymnastics. Clin Sports Med. 1985;4(1):85–93 Nachemson A. A long term follow-up study of non-treated scoliosis. Acta Orthop Scand. 1968;39(4):466–476 Nachemson A, Lonstein J, Weinstein S. Report of the SRS Prevalence and Natural History Committee 1982. Presented at the SRS Meeting, Denver, CO; 1982 O’Sullivan PB, Phyty GD, Twomey LT, Allison GT. Evaluation of specific stabilizing exercise in the treatment of chronic low back pain with radiologic diagnosis of spondylolysis or spondylolisthesis. Spine (Phila Pa 1976). 1997;22(24):2959–2967 Poussa M, Schlenzka D, Seitsalo S, Ylikoski M, Hurri H, Osterman K. Surgical treatment of severe isthmic spondylolisthesis in adolescents. Reduction or fusion in situ. Spine (Phila Pa 1976). 1993;18(7):894–901 Riseborough EJ, Wynne-Davies R. A genetic survey of idiopathic scoliosis in Boston, Massachusetts. J Bone Joint Surg Am. 1973;55(5):974–982 Rowe GG, Roche MB. The etiology of separate neural arch. J Bone Joint Surg Am. 1953;35A(1):102–110 Sardar ZM, Ames RJ, Lenke L. Scheuermann’s kyphosis: diagnosis, management, and selecting fusion levels. J Am Acad Orthop Surg. 2019;27(10):e462–e472 Stewart TD. The age incidence of neural-arch defects in Alaskan natives, considered from the standpoint of etiology. J Bone Joint Surg Am. 1953;35-A(4):937–950 Sys J, Michielsen J, Bracke P, Martens M, Verstreken J. Nonoperative treatment of active spondylolysis in elite athletes with normal X-ray findings: literature review and results of conservative treatment. Eur Spine J. 2001;10(6):498–504 Ward CV, Latimer B. Human evolution and the development of spondylolysis. Spine (Phila Pa 1976). 2005;30(16):1808–1814 Weinstein SL. Idiopathic scoliosis. Natural history. Spine (Phila Pa 1976). 1986;11(8):780–783

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Weinstein SL, Dolan LA, Wright JG, Dobbs MB. Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med. 2013;369(16):1512–1521 Weinstein SL, Zavala DC, Ponseti IV. Idiopathic scoliosis: long-term follow-up and prognosis in untreated patients. J Bone Joint Surg Am. 1981;63(5):702–712 Wiltse LL, Newman PH, Macnab I. Classification of spondylolisis and spondylolisthesis. Clin Orthop Relat Res. 1976;(117):23–29 Wynne-Davies R, Scott JH. Inheritance and spondylolisthesis: a radiographic family survey. J Bone Joint Surg Br. 1979;61-B(3):301–305 Yamaguchi KT Jr, Skaggs DL, Acevedo DC, Myung KS, Choi P, Andras L. Spondylolysis is frequently missed by MRI in adolescents with back pain. J Child Orthop. 2012;6(3):237–240

Part 6: Back Pain TOPICS COVERED 14. Back Pain: General Approach and Differential Diagnosis............. 153 Approach to the Evaluation Diagnostic Considerations Treatment Backpacks and Back Pain



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CHAPTER 14

Back Pain: General Approach and Differential Diagnosis •• Back pain is an uncommon presenting issue in young children but increases in presentation during adolescence.

•• Fifty percent of individuals will have one episode of back pain by age 20 years,

and evidence suggests that back pain in children, especially idiopathic, correlates directly with continued back pain in adulthood. •• A retrospective review of children with back pain demonstrated that no specific diagnosis was made in 78% of cases. Even so, children and adolescents are more likely than adults to have a specific diagnosis assigned to their back pain. •• Causes range from relatively benign, with little concern for long-term consequences; to somewhat concerning, such as infections, with the potential for lasting repercussions; to malignancies, which have potential for immediate harm (Table 14-1). •• Patient age can help narrow the differential diagnosis (Table 14-2).

153

Causes of Back Pain Distinguishing Signs/Symptoms

Evaluation/Treatment

Diskitis

CBC, CRP level, ESR, and blood cultures.

Presents with back/abdominal pain.

Radiographs are negative for 10–14 d, then show disk space narrowing and vertebral end plate changes.

May refuse to walk.

Bone scan helpful for diagnosis.

Likely infectious, although pathogen often difficult to identify.

MRI also good for diagnosis and for identifying abscess or neural compression (see Chapter 9, Miscellaneous Infections, Figure 9-1).

Most commonly identified pathogen is Staphylococcus aureus.

Treated with 5–7 d IV antibiotics, then transition to oral antibiotics. Osteomyelitis

All ages.

WBC, CRP, and ESR typically elevated.

Constant pain, night pain.

Blood cultures positive in 50%.

May have fever and chills, generalized malaise, anorexia, and weight loss.

Radiographs are negative for 10–14 d, then show periosteal thickening or elevation, and focal osteopenia. Bone scan or MRI helpful for diagnosis. Treated with 5–7 d IV antibiotics, then transition to oral antibiotics.

Benign tumors Osteoid osteoma

Bone cyst (unicameral or aneurysmal)

Small, benign lesion causing a dull, well-localized pain that is worse at night

Involvement of the pedicle may lead to characteristic obliteration of the pedicle on AP radiograph known as the “winking owl” sign (Figure 14-1).

Pain often relieved by NSAIDs

Typically resolves over the course of several years; some may benefit from surgery.

May lead to scoliosis

Requires referral to pediatric orthopaedic specialist.

Benign cystic lesions that usually affect posterior elements of the spine

Usually identified on plain radiographs.

Usually chronic, dull pain, or may present with pathologic fracture

Require referral to pediatric orthopaedic specialist.

MRI features are diagnostic.

PE often normal, but aneurysmal cysts may have neurologic symptoms secondary to cord or nerve root impingement Eosinophilic granuloma

Benign tumor of anterior portion of spine.

Radiographs show flattened lesion of vertebra, “vertebra plana” (Figure 14-2).

Can be isolated or part of Letterer-Siwe or Hand-SchüllerChristian disease.

Biopsy necessary to confirm diagnosis.

Rarely, presents with fever and leukocytosis.

Requires referral to pediatric orthopaedic specialist.

Skeletal survey helpful to look for other lesions.

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Inflammatory condition in disk space commonly seen in children ≤ 4 y.

154

Table 14-1. Distinguishing Features of Common Causes of Back Pain in Children and Adolescents

Evaluation/Treatment

Malignant tumors

Unrelenting, deep, and progressively more severe pain, especially at night.

Back pain caused by leukemia has no characteristic radiographic features but may demonstrate compression fractures.

May have fever and chills, generalized malaise, anorexia, and weight loss.

Bone scan is the best study to evaluate for skeletal metastases.

Most common in children  40–45 degrees kyphosis, characteristic vertebral body wedging, end plate abnormalities, and Schmorl nodes.

Forward bending demonstrates angular hump (Figure 12-1).

Refer to orthopaedic specialist.

Activity-related pain

Most respond to bracing and physical therapy. Mechanical back pain

Usually chronic and intermittent

Diagnosis of exclusion.

Often related to overuse or poor mechanics

Treated with activity modification, physical therapy, and NSAIDs.

May have paraspinal muscle tenderness and tight hamstrings, but usually no specific findings on examination

Avoid bed rest because it leads to deconditioning. Encourage exercise. When other diagnoses have been excluded and patient does not respond to these modalities, referral to a pain management specialist is appropriate.

Abbreviations: AP, anteroposterior; CBC, complete blood cell count; CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; IV, intravenous; MRI, magnetic resonance i­maging; NSAID, nonsteroidal anti-inflammatory drug; PE, physical examination; WBC, white blood cell count.

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Causes of Back Pain Distinguishing Signs/Symptoms

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Table 14-1. Distinguishing Features of Common Causes of Back Pain in Children and Adolescents, continued



Chapter 14: Back Pain: General Approach and Differential Diagnosis

157

Table 14-2. Common Causes of Back Pain Birth–4 y

5–11 y

12 y–maturity

Diskitis

Benign tumors

Mechanical back pain

Osteomyelitis

• Osteoid osteoma

Spondylolysis

Malignant tumors

• Unicameral bone cyst

Spondylolisthesis

• Aneurysmal bone cyst

Kyphosis

• Eosinophilic granuloma

• Postural

Diskitis

• Scheuermann disorder

Osteomyelitis

Slipped vertebral ring apophysis

Figure 14-1. “Winking owl” sign (arrow) in osteoid osteoma. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:997. Reproduced with permission.

Figure 14-2. Lateral radiograph of thoracic spine shows characteristic vertebra plana (arrow) caused by eosinophilic granuloma.

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Approach to the Evaluation

•• History ——Duration, location, timing, character, and intensity of pain, as well as aggravating and alleviating factors

——Constitutional symptoms such as fever, weight loss, and fatigue ——Change in bowel or bladder function is a red flag requiring urgent evaluation. ——Dysuria, gait changes, and lower extremity numbness indicate a neurologic disorder.

•• Physical examination ——Inspect for sacral dimple or hair patch that may indicate spinal dysraphism and for skin changes that may indicate neurofibromatosis.

——Assess for leg-length inequalities. ——Evaluate spine range of motion in flexion, extension, lateral bending, and

rotation. with hyperextension is commonly seen with spondylolysis and spondylolisthesis. „„Pain with flexion, but relief in extension, is common with herniated disk. ——Perform a single-leg extension test (Stork test) for spondylolysis and spondylolisthesis (see Chapter 4, Physical Examination, Figure 4-10). ——Measure the popliteal angle to assess hamstring flexibility (Figure 4-5). „„Hamstring tightness has been correlated with mechanical back pain. ——Examine extremities for muscle strength, sensation, deep tendon reflexes, and long tract findings. ——Check abdominal reflex. „„Stroke the 4 quadrants of the abdomen to ensure that the umbilicus moves to the lateral half of the body each time. „„May be abnormal with intraspinal pathology ——Observe gait. „„Stiff gait seen with muscular strains „„Slap-foot or drop-foot gait seen with tibialis anterior weakness resulting from nerve impingement „„Crouched gait at the knees may be seen with hamstring spasticity related to spondylolysis or spondylolisthesis. „„Pain

Diagnostic Considerations

•• In some cases, the diagnosis can be made by history and physical examination. •• Radiographs ——When to order „„4

years or younger of any red flags (Box 14-1) ——What to order „„Obtain radiographs prior to any advanced imaging (eg, magnetic resonance imaging [MRI], computed tomography). „„Presence



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Box 14-1. Red Flags Pertaining to the History • Fevers, chills, malaise, anorexia • Weight loss • Decreased appetite • Unrelenting pain • Night pain • Associated radicular pain • Dysuria • Loss of bowel or bladder control • Self-limiting activities and sports • Duration of symptoms longer than 6 weeks

„„Views—thoracic

(anteroposterior [AP] and lateral), lumbar (standing AP and lateral) „„Additional oblique lumbar films may help visualize spondylolysis. •• MRI ——Good at evaluating for spondylolysis, intraspinal abnormalities, tumors, and infection ——Obtain with and without contrast to evaluate for tumor or infection. ——Study may require sedation in younger children. ——May show abnormalities in asymptomatic patients, so must correlate history and physical examination with MRI findings. •• Bone scan ——Extremely sensitive and relatively inexpensive test ——Helpful when diagnosis cannot be made by history, physical examination, radiography, and MRI ——Study may require sedation in younger children. •• Computed tomography ——Limited role in workup of back pain in children ——Helpful for evaluating bony anatomy ——Helpful to localize a small tumor, such as an osteoid osteoma •• Laboratory studies ——If concern for infection, malignancy, or inflammatory arthropathy, complete blood cell count with differential, erythrocyte sedimentation rate, and C-reactive protein level should be obtained. ——Urinalysis should be ordered for flank pain or tenderness, dysuria, or abdominal pain. ——HLA-B27 testing can be ordered if concern exists for ankylosing spondylitis or Reiter syndrome (see Chapter 74, Juvenile Idiopathic Arthritis).

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Treatment

•• Additional information about treatment of specific diagnoses can be found in other chapters. ——Osteomyelitis (Chapter 7), diskitis (Chapter 9), kyphosis (Chapter 12), spondylolysis and spondylolisthesis (Chapter 13), benign and malignant tumors (chapters 58–60).

Backpacks and Back Pain

•• Back pain is common in adolescents; proving causal relationship between backpacks and back pain has been inconclusive.

•• Older studies have demonstrated a correlation between weight of a backpack and back pain.

•• More recent studies and systematic reviews have failed to demonstrate this effect and found that psychosomatic factors had more influence on back pain.

•• Although evidence is lacking, for children and adolescents with back pain, the

following adjustments may reduce symptoms: limiting pack weight to no more than 10% to 20% of body weight, obtaining a second set of books for home and school, or using a rolling bag instead of a backpack.

Resources for Physicians and Families

•• https://orthoinfo.aaos.org/topic.cfm?topic=A00036 •• https://orthoinfo.aaos.org/menus/spine.cfm

Bibliography—Part 6 American Academy of Orthopaedic Surgeons. Backpack safety. OrthoInfo website. https://orthoinfo. aaos.org/en/staying-healthy/backpack-safety/. Accessed November 16, 2020 American Academy of Pediatrics. Back-to-school tips. https://www.healthychildren.org/English/agesstages/gradeschool/school/Pages/Back-to-School-Tips.aspx. Accessed December 11, 2020 Clifford SN, Fritz JM. Children and adolescents with low back pain: a descriptive study of physical examination and outcome measurement. J Orthop Sports Phys Ther. 2003;33(9):513–522 Dai LY, Ye H, Qian QR. The natural history of cervical disc calcification in children. J Bone Joint Surg Am. 2004;86(7):1467–1472 Feldman DS, Hedden DM, Wright JG. The use of bone scan to investigate back pain in children and adolescents. J Pediatr Orthop. 2000;20(6):790–795 Grubb MR, Currier BL, Pritchard DJ, Ebersold MJ. Primary Ewing’s sarcoma of the spine. Spine (Phila Pa 1976). 1994;19(3):309–313 Heinrich SD, Gallagher D, Warrior R, Phelan K, George VT, MacEwen GD. The prognostic significance of the skeletal manifestations of acute lymphoblastic leukemia of childhood. J Pediatr Orthop. 1994;14(1):105–111 Leboeuf-Yde C, Kyvik KO. At what age does low back pain become a common problem? A study of 29,424 individuals aged 12-41 years. Spine (Phila Pa 1976). 1998;23(2):228–234 Leeson MC, Makley JT, Carter JR. Metastatic skeletal disease in the pediatric population. J Pediatr Orthop. 1985;5(3):261–267



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Lonstein JE. Spondylolisthesis in children. Cause, natural history, and management. Spine (Phila Pa 1976). 1999;24(24):2640–2648 Mirovsky Y, Jakim I, Halperin N, Lev L. Non-specific back pain in children and adolescents: a prospective study until maturity. J Pediatr Orthop B. 2002;11(4):275–278 Negrini S, Carabalona R, Sibilla P. Backpack as a daily load for schoolchildren. Lancet. 1999;354(9194):1974 Ogilvie JW, Sherman J. Spondylolysis in Scheuermann’s disease. Spine (Phila Pa 1976). 1987;12(3):251–253 Oka GA, Ranade AS, Kulkarni AA. Back pain and school bag weight - a study on Indian children and review of literature. J Pediatr Orthop B. 2019;28(4):397–404 O’Sullivan K, O’Keeffe M, Forster BB, Qamar SR, van der Westhuizen A, O’Sullivan PB. Managing low back pain in active adolescents. Best Pract Res Clin Rheumatol. 2019;33(1):102–121. Ovadia D, Metser U, Lievshitz G, Yaniv M, Wientroub S, Even-Sapir E. Back pain in adolescents: assessment with integrated 18F-fluoride positron-emission tomography-computed tomography. J Pediatr Orthop. 2007;27(1):90–93 Sheir-Neiss GI, Kruse RW, Rahman T, Jacobson LP, Pelli JA. The association of backpack use and back pain in adolescents. Spine (Phila Pa 1976). 2003;28(9):922–930 Shives TC, Dahlin DC, Sim FH, Pritchard DJ, Earle JD. Osteosarcoma of the spine. J Bone Joint Surg Am. 1986;68(5):660–668 Siambanes D, Martinez JW, Butler EW, Haider T. Influence of school backpacks on adolescent back pain. J Pediatr Orthop. 2004;24(2):211–217 Swärd L, Hellstrom M, Jacobsson B, Nyman R, Pëterson L. Acute injury of the vertebral ring apophysis and intervertebral disc in adolescent gymnasts. Spine (Phila Pa 1976). 1990;15(2):144–148 Tertti MO, Salminen JJ, Paajanen HE, Terho PH, Kormano MJ. Low-back pain and disk degeneration in children: a case-control MR imaging study. Radiology. 1991;180(2):503–507 van Gent C, Dols JJ, de Rover CM, Hira Sing RA, de Vet HC. The weight of schoolbags and the occurrence of neck, shoulder, and back pain in young adolescents. Spine (Phila Pa 1976). 2003;28(9):916–921 Wall EJ, Foad SL, Spears J. Backpacks and back pain: where’s the epidemic? J Pediatr Orthop. 2003;23(4):437–439 Weinstein SL. Natural history. Spine (Phila Pa 1976). 1999;24(24):2592–2600 Yamato TP, Maher CG, Traeger AC, Wiliams CM, Kamper SJ. Do schoolbags cause back pain in children and adolescents? A systematic review. Br J Sports Med. 2018;52(19):1241–1245 Young AI, Haig AJ, Yamakawa KS. The association between backpack weight and low back pain in children. Journal of Back and Musculoskeletal Rehabilitation. 2006;19(1):25–33

Part 7: Pediatric Cervical Spine TOPICS COVERED 15. Pediatric Cervical Spine: Basic Radiographic Interpretation........ 165 General Considerations Normal Anatomic Variants Pseudosubluxation Pseudo-Jefferson Fracture Increased Atlantodens Interval 16. Torticollis.............................................................................. 171 Overview Congenital Muscular Torticollis Other Causes of Torticollis in the Infant and Young Child 17. Atlantoaxial Rotatory Subluxation or Fixation............................ 179 Atlantoaxial Instability



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CHAPTER 15

Pediatric Cervical Spine: Basic Radiographic Interpretation General Considerations

•• The pediatric cervical spine has unique anatomic features. ——The younger the child, the higher the risk for an upper cervical spine injury

because of hypermobility secondary to ligamentous laxity, shallow and horizontally oriented facet joints, physiologic anterior vertebral body wedging, variation of the fulcrum of movement (C2–C3 in children vs C5–C6 in adults), and a large head relative to the body. Most pediatric cervical spine injuries occur in the upper cervical spine (ie, occiput to C3). ——Cervical spine injuries are associated with a high risk of neurologic injury in children. •• The pediatric cervical spine reaches adult proportions between 8 and 10 years of age, after which the spectrum of diagnoses and treatment is the same as in adults. •• Initial radiographic evaluation for a cervical spine injury should include anteroposterior and lateral views. ——Open-mouth odontoid views are routinely obtained for older children and adolescents in cases of trauma but may not be helpful in children younger than 3 to 4 years of age because of the difficulty in obtaining a quality radiographic view and interpretation of the image in this age group. ——Swimmer’s view (a modified lateral view to visualize the C7/T1 junction) may be necessary to appropriately evaluate the cervical-thoracic junction. ——Flexion and extension views may be added to look for signs of instability but are not indicated in the setting of an acutely injured child. •• Computed tomography (CT) with multiplanar reformatting is used to evaluate bony detail and is superior to plain radiography for detecting cervical spine fractures. ——However, because of the risks associated with ionizing radiation, CT is not routinely used in the evaluation of traumatic injury unless the mechanism, clinical evaluation, or plain radiographs indicate a potential bony injury of the cervical spine. 165

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•• Magnetic resonance imaging is useful to discern cartilage injury of the vertebral bodies, soft tissue disruption, and spinal cord compression or injury such as occurs from instability or spinal cord injury without radiographic abnormalities (commonly known as SCIWORA).

Normal Anatomic Variants

•• Normal variations in apophyses, synchondroses, and ossification (Table 15-1,

Figure 15-1) should be distinguished from fractures. ——Fractures may occur in any part of the vertebral body at any cervical level, are non-sclerotic, and often have irregular margins. ——Growth areas of the vertebral bodies, termed synchondroses and apophyses, occur in predictable locations in vertebral bodies based on the child’s skeletal age, appear as smooth and regular, and can have sclerotic margins.

Table 15-1. Normal Cervical Spine Ossification Centers in Children Level C1

C2

Ossification Centers

Appearance

Fusion

Three: Anterior arch and 2 neural arches

Neural arches are present at birth.

Neural arches fuse posteriorly by 3 y.

Anterior arch: 20% are present at birth, visible ossification at 1 y.

Anterior arch fuses with neural arches at 7 y.

Four: 2 neural arches, vertebral body, odontoid process

All 4 are present at birth.

Posterior neural arches fuse at 2–3 y.

Os terminale (a secondary ossification center at apex of odontoid process) appears by 3–6 y.

Posterior neural arches fuse with odontoid process at 3–6 y. Body of C2 fuses with odontoid process at 3–6 y; fusion line (subdental synchondrosis) is visible until 11 y. Os terminale fuses by 12 y.

C3–C7

Three: Vertebral body, 2 neural arches

All 3 are present at birth.

Posterior neural arches fuse at 2–3 y. Vertebral body fuses with neural arches at 3–6 y. Fusion of secondary ossification centers at tips of transverse and spinous processes, and superior and inferior aspects of vertebral bodies are varied—can persist until third decade.

Information from Jagannathan J, Sansur CA, Shaffrey CI. Iatrogenic spinal deformity. Neurosurgery. 2008;63(3 suppl):104–116.



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S

fuse around 7 years old

X Y

Y

Y

X

C1 vertebra

fuse at 3 years old May remain unfused

S O

Y

O O

C2 vertebra

Y

Y

X

S fuse between 3-6 years old

S

S

X Y

Y

Y

C3-6 vertebrae fuse between 2-4 years old

X

Apophysis Up to 24 years

Figure 15-1. Location of apophyses, synchondroses, and ossification centers in the cervical spine, and typical ages for fusion.

•• Children younger than 16 years may show an absence of cervical lordosis (Figure 15-2) as a normal variant on lateral radiographs.

•• Lateral radiographs may show a large, soft tissue prevertebral space that may be

mistaken for injury. ——Up to 6 mm of prevertebral space (Figure 15-3) at C3 is normal in children.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 15-2. Lateral view of the cervical spine in a 17-month-old child demonstrates absence of normal cervical lordosis and pseudosubluxation of C2 on C3.

Figure 15-3. Lateral view of the cervical spine in a 1-year-old child demonstrates normal prominence of prevertebral soft tissues.

——This normal widening compared with adults may be because of expiration

and is commonly seen in crying, younger children. Repeat radiographs on inspiration or when the child is quieted may be useful in discerning true injury from artifact. ——True widening of the prevertebral space is suggestive of a cervical spine injury.



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Pseudosubluxation

•• Anterior subluxation of C2-C3 or C3-C4 up to 2 mm, that is, pseudosubluxation,

is a normal variation seen in children younger than 14 years and is caused by physiologic hypermobility of the pediatric upper cervical spine facet joints (see Figure 15-4). •• Pseudosubluxation is identified on lateral neutral and flexion radiographs and may be mistaken for pathologic instability. •• Pseudosubluxation may be mistaken for injury in children 14 years and younger. •• On the lateral flexion radiograph, pathologic C2-3 anterior instability, such as that caused by C2 spondylolysis (also known as a “hangman’s fracture”), may be distinguished from pseudosubluxation by drawing a line from the anterior aspect of the C1 spinous process to the anterior aspect of the C3 spinous process; this line is called the posterior cervical line, or Swischuk line. A line that passes more than 2 mm anterior to the anterior aspect of the C2 spinous process suggests pathologic C2-C3 instability and not pseudosubluxation. •• Pseudosubluxation may correct on extension radiographs and may be accentuated with muscle spasm. •• If radiographs create uncertainty, pathologic instability may be distinguished from pseudosubluxation based on clinical evaluation and MRI.

Figure 15-4. Normal alignment of the cervical spine (A). Pseudosubluxation with C2 displaced forward on C3 indicated by arrow (B). Panel A reprinted from Bukata R. The plain cervical spine x-ray is almost dead. Emergency Physicians Monthly. Nov 21, 2016. https://epmonthly.com/article/plain-cervical-spine-x-ray-almost-dead/. Panel B reprinted from Hall DE, Boydston W. Pediatric neck injuries. Pediatr Rev. 1999;20(1):13–20.

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Pseudo-Jefferson Fracture

•• Odontoid views in children may show overhang of the C1 lateral masses relative

to the C2 lateral masses. While this finding is often indicative of a C1 ring fracture (also known as Jefferson fracture) in adults, lateral widening in children that totals as much as 6 mm is a normal variation and is sometimes referred to as pseudoJefferson fracture. •• True Jefferson fractures occur rarely in children and are the result of an axial load to the crown of the head. Distinguishing a true Jefferson fracture from a pseudoJefferson fracture is based on clinical evaluation and CT scan to confirm the presence of fracture and to determine the precise amount of displacement. •• True Jefferson fractures uncommonly cause spinal cord injury and often heal without surgery.

Increased Atlantodens Interval

•• The distance measured between the posterior arch of C1 (atlas) and the anterior

odontoid process of C2 (the dens) is called the atlantodens interval (ADI). The normal ADI in children can be up to 5 mm, while the normal ADI in adults is up to 3 mm. •• C1-C2 instability (also called atlantoaxial instability or atlantodens instability) is assessed by measuring the ADI on the lateral flexion radiograph. •• In a small percentage of children with Down syndrome, C1-C2 instability may occur without trauma and lead to spinal cord compression. While routine screening of asymptomatic patients with Down syndrome for C1-C2 instability is no longer considered necessary, a lateral flexion radiograph should be performed on any patient with Down syndrome who develops neurologic symptoms concerning for cord compression.

CHAPTER 16

Torticollis Overview

•• Torticollis (wry neck) is a condition in which the head is tilted toward one side and the chin is turned toward the other.

•• The term is derived from Latin—torqueo, “to twist,” and collum, or “neck.” •• A spectrum of conditions may precipitate torticollis in a child. An appropriate history and physical examination (Table 16-1) will narrow the differential diagnosis. Congenital muscular torticollis is the most common type by far. •• The differential diagnoses can be separated into 2 broad categories. ——Congenital or newborn-associated conditions ——Acquired from causes including traumatic, infectious/inflammatory, and neoplastic conditions •• All patients with torticollis should undergo screening with the use of anteroposterior (AP) and lateral cervical radiographs.

Congenital Muscular Torticollis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Congenital muscular torticollis is the most common form, with an incidence of 1% to 2% of live births.

•• It is more common in boys and in breech presentation births. •• The right side is involved more often than the left. •• Etiology is unknown. ——Ultrasonographic studies suggest that intrauterine malpositioning may play a role by causing injury to the sternocleidomastoid muscle (SCM), leading to subsequent fibrosis (pseudotumor). ——Heredity may also be a factor. ——Other potential etiology includes trauma (eg, muscle stretch with intracompartmental hemorrhage) •• Developmental dysplasia of the hip may coexist with congenital muscular torticollis at a rate of about 2% to 29%. SIGNS AND SYMPTOMS

•• Typically present at 2 to 4 weeks of age. •• The head is tilted toward the involved SCM, and the chin is tilted away (chin left and occiput right, or chin right and occiput left).

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Table 16-1. History and Physical Examination Findings for Various Causes of Torticollis History or Physical Examination Finding

Diagnoses to Consider

Present since birth

Congenital muscular torticollis Klippel-Feil syndrome/congenital cervical abnormality Neurogenic causes (eg, brain or spinal cord abnormalities)

First appears in late infancy

Ocular torticollis if painless and having full cervical range of motion

Sudden onset

Atlantoaxial rotatory subluxation Paraspinal soft tissue strain Other fractures and ligament injuries

Worsened over weeks or months

Neurogenic causes

Worsened over years

Klippel-Feil/congenital cervical abnormality

Intermittent

Neurogenic causes Sandifer syndrome Paroxysmal torticollis of infancy

History of trauma

Paraspinal soft tissue injury Atlantoaxial rotatory subluxation Other fractures and ligament injuries

Recent fever

Vertebral osteomyelitis or diskitis Grisel syndrome (inflammatory atlantoaxial rotatory subluxation)

Painful

Traumatic (see “History of trauma,” earlier) Atlantoaxial rotatory subluxation Other fractures and ligament injuries Grisel syndrome (inflammatory atlantoaxial rotatory subluxation) Diskitis/osteomyelitis Juvenile idiopathic arthritis Neoplastic conditions such as eosinophilic granuloma and osteoid osteoma/osteoblastoma

Flexible (no SCM contracture or range of motion deficit)

Ocular torticollis

Neurologic signs or symptoms

CNS tumors (eg, cervical cord, brainstem, posterior fossa)

Sandifer syndrome Chiari malformation Syringomyelia Basilar invagination

Abbreviations: CNS, central nervous system; SCM, sternocleidomastoid muscle.

•• A palpable, firm mass (pseudotumor), usually at the distal third of the SCM. •• Range of motion is decreased, especially rotation toward the tight SCM and lateral bending away from the tight SCM.

•• When the defect is long-standing, plagiocephaly, facial asymmetry, and a unilateral epicanthal fold may be noted.



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DIFFERENTIAL DIAGNOSIS

•• Ocular torticollis •• Klippel-Feil/congenital cervical abnormality DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined based on the history and physical examination findings

(Table 16-1), the results of diagnostic tests, radiographs, or other imaging of the cervical spine, and, when appropriate, an eye examination. •• AP and lateral radiographs of the cervical spine are routinely obtained to rule out congenital anomalies of the cervical spine that may account for abnormal head position and limited cervical range of motion. •• Ultrasonography can help differentiate congenital muscular torticollis from other soft tissue pathologies in the neck, such as tumors or cysts, and help to define the extent of SCM fibrosis, which may be prognostic. Ultrasonography is performed only in select cases. •• A thorough hip examination and diagnostic imaging of the hips with ultrasonography or radiography should be included in the evaluation of children with congenital muscular torticollis. TREATMENT

•• Nonoperative ——Manual stretching is the treatment of choice and is 90% effective, particularly if the child is younger than 1 year.

——It also includes a home program of active stretching (after instruction by an occupational or physical therapist).

•• Operative ——Rarely, surgery may be indicated if satisfactory improvement is not achieved after 6 months of stretching exercises and after 1 year of age.

——The goal of surgery is cosmetic, as well as to achieve functional improvement in those patients for whom conservative measures are unsuccessful or who present late. ——While many consider the optimal time for surgery to be between 1 and 4 years of age, surgical treatment beyond 10 years may be of benefit. After 10 years of age, remodeling of skull and facial asymmetry is less predictable. ——The preferred surgical technique of lengthening of the sternomastoid muscle varies. ——Factors associated with less satisfactory outcomes of surgery include older age at operation and more severe deformity before surgery. EXPECTED OUTCOMES/PROGNOSIS

•• The mass (pseudotumor) will gradually regress or disappear, in most cases by 4 to 6 months of age. The mass is a pseudotumor and must not be misdiagnosed as a pediatric tumor or malignancy. •• If congenital muscular torticollis persists beyond 1 year of age after conservative treatment has been initiated, it is less likely to resolve spontaneously.

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Clinical Pearl Congenital muscular torticollis is the most common form of congenital torticollis and responds to a stretching program best initiated prior to age 1 year. Patients with the diagnosis should be evaluated for hip dysplasia. WHEN TO REFER

•• Refer to an orthopaedic surgeon ——If satisfactory improvement is not achieved after 6 months of stretching exercises ——For those who present after 1 year of age ——Children for whom the etiology of torticollis is unclear after primary care evaluation and diagnostic imaging

Other Causes of Torticollis in the Infant and Young Child OCULAR TORTICOLLIS (CONGENITAL SUPERIOR OBLIQUE OR LATERAL RECTUS PALSY) Introduction/Etiology/Epidemiology

•• Ocular torticollis is a compensatory mechanism that children with strabismus, ptosis, or nystagmus adopt to obtain the best vision.

•• It presents most commonly in children older than 2 years, although it may present as young as 6 months (after child is sitting upright).

•• Signs or symptoms may be present for years by the time of presentation. •• The diagnosis is frequently an incidental finding on examination for another condition. Signs and Symptoms

•• Torticollis with no SCM contracture is the most common presentation. •• Head tilting is not present at sleep. •• Patients are able to demonstrate full active, pain-free neck range of motion when eyes are closed.

•• Not associated with pain or other neurologic symptoms •• Strabismus, nystagmus, ptosis, and, rarely, diplopia, may be present. Differential Diagnosis

•• Congenital muscular torticollis (SCM contracture) •• Paroxysmal torticollis of infancy (intermittent) •• Congenital cervical spine deformities (abnormal radiographs) Diagnostic Considerations

•• Diagnosis is determined based on the history and physical examination findings (Table 16-1) and on standard cervical radiographs.

Treatment and Expected Outcomes/Prognosis

•• Surgical treatment of the ocular abnormality can correct the torticollis. When to Refer

•• Refer to an ophthalmologist for formal assessment.



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PAROXYSMAL TORTICOLLIS OF INFANCY Introduction/Etiology/Epidemiology

•• This uncommon condition is usually first noted in infancy, almost always prior to 9 months of age.

•• It typically occurs in otherwise healthy infants. Signs and Symptoms

•• The child will have a recurrent head tilt, usually to one side, but may alternate sides.

•• The symptoms present periodically, usually every several days or weeks. •• The trunk may bend in the same direction as the head, and the posterior neck muscles may contract.

•• Accompanying symptoms may include drowsiness, irritability, vomiting, and ataxia, but usually there are no accompanying symptoms.

•• The torticollis is usually the only notable physical finding. Differential Diagnosis

•• Sandifer syndrome (discussed in next section) Diagnostic Considerations

•• Any child with a torticollis should undergo AP and lateral radiography of the

cervical spine; these findings should be negative in benign paroxysmal torticollis.

•• No other imaging is typically indicated.

Treatment and Expected Outcomes/Prognosis

•• Benign paroxysmal torticollis typically resolves spontaneously between 1 and 3 years of age, after which the child remains symptom free.

•• It may herald the onset of migraine later in childhood. When to Refer

•• Refer to a pediatric orthopaedic specialist if the torticollis has not resolved by 3 years of age.

SANDIFER SYNDROME

•• Characterized by intermittent, abnormal head and neck posturing associated with gastroesophageal reflux and esophagitis, sometimes from hiatal hernia

•• The torticollis may be the child’s attempt to decrease the pain of the esophagitis. •• Medical management for the gastrointestinal symptoms, and sometimes fundoplication, resolves the condition.

CONGENITAL CERVICAL ABNORMALITY/KLIPPEL-FEIL SYNDROME Introduction/Etiology/Epidemiology

•• Congenital abnormalities of the cervical spine are a common cause of fixed torticollis in the young child.

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•• Defects in segmentation or formation (Figure 16-1) of the cervical spine lead to

fixed, sometimes progressive deformity, as well as pain and neurologic symptoms.

•• Klippel-Feil syndrome ——Represents 50% of all congenital cervical abnormalities ——Patients have an abnormal number of cervical vertebrae or fusion of

hemivertebrae into one osseous mass, leading to the clinical triad of short neck, low posterior hairline, and limitation of neck range of motion. ——Incidence has been estimated at 1 per 40,000 live births. ——Usually appears sporadically, but may be familial (6%–16% of cases in one series)

Signs and Symptoms

•• The presentation of congenital cervical abnormality is heterogeneous. •• Some patients are asymptomatic, and the condition is discovered only incidentally.

•• Eighteen percent of patients present with a fixed torticollis. ——Occasionally appreciated in the infant or toddler, but commonly does not receive attention until later in life

——The deformity may be gradually progressive, typically over years.

•• Limitation of neck range of motion in lateral bending or rotation. •• Webbed neck may be present. •• Patients with Klippel-Feil syndrome have the triad of short neck, low posterior hairline, and limitation of neck range of motion.

•• Neck pain or neurologic issues (eg, radiculopathy, myelopathy) may rarely be a presenting issue, typically at adolescence or older.

•• Neurologic findings may include cranial nerve abnormalities (eg, swallowing

or speaking difficulties, mirror image movements), myelopathy (eg, spasticity, hyperreflexia), or radiculopathy. •• Blurred vision or headaches may indicate an associated basilar invagination. Figure 16-1. Lateral view of a 13-year-old girl with multiple congenital upper and lower cervical spine fusions, consistent with Klippel-Feil abnormality. Courtesy of Mark C. Lee, MD. Used with permission.



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•• Several conditions are associated with congenital cervical spine abnormality. ——Congenital scoliosis of the thoracic or lumbar spine (50%) ——Sprengel deformity (maldescent of the shoulder girdle) (20%–30%) ——Hearing abnormalities (30%) ——Congenital cardiac disease (4%–29%) ——Renal abnormalities (30%), most commonly agenesis but may be malrotation, horseshoe kidney, or ectopic kidney

——Cleft palate has also been associated Differential Diagnosis

•• Congenital muscular torticollis (normal radiographic findings) •• Ocular torticollis (flexible torticollis and normal radiographic findings) Diagnostic Considerations

•• All patients with congenital cervical abnormality should undergo renal

ultrasonography, a hearing evaluation, radiography of the thoracolumbar spine, and cardiac assessment. •• In most cases, the diagnosis can be determined using radiographs of the cervical spine (AP and lateral). •• In some cases, computed tomography or magnetic resonance imaging of the cervical spine is necessary for diagnosis. ——When upper cervical abnormalities are suspected but radiographs are inconclusive ——In the infant, the cervical vertebrae are largely cartilaginous, and abnormalities may be difficult to distinguish. ——For congenital abnormalities of the upper cervical spine, usually C1, which may be difficult to distinguish on radiographs. ——Magnetic resonance imaging of the cervical spine is indicated if the patient has neurologic findings, to assess for stenosis, myelopathy, or nerve root compromise. •• To evaluate for associated conditions, all patients diagnosed with congenital cervical abnormalities should undergo ——Radiography of the thoracolumbar spine ——Renal ultrasonography ——Hearing evaluation ——Cardiac assessment Treatment

•• The child is followed for progression of deformity or symptoms. •• Surgery is indicated for progression of deformity, progressive instability, neurologic compromise, or fusion of the hypermobile segments.

•• Prophylactic surgical intervention is not typically warranted. •• Individuals with high-risk anomalies should be cautioned to avoid contact sports and situations highly risky for a blow to the head.

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Expected Outcomes/Prognosis

•• The natural history is highly variable. •• The condition may present and remain asymptomatic or minimally symptomatic. •• Because of the cervical spine fusion(s) present, however, hypermobility of the adjacent open segments can lead to instability with spinal cord compression, premature osteoarthritis of the functioning segments leading to pain, radiculopathy, or stenosis and osteoarthritis over time. •• Of those who become symptomatic, 1 of 5 do so before 5 years of age. •• More frequently, symptoms are not apparent until the teenaged years and the twenties, with 65% of patients symptomatic by 30 years of age. •• Three patterns of congenital cervical abnormalities carry a particularly high risk of neurologic injury or sequelae. ——Fusion of the occiput to C1; C1 to C2; or C2 to C3 ——A long cervical fusion with an abnormal occipitocervical junction ——Two fused segments with a single open intervening interspace When to Refer

•• Refer all patients with congenital cervical spine abnormality to an orthopaedic surgeon. The referral can be routine unless there are neurologic signs or symptoms.

CHAPTER 17

Atlantoaxial Rotatory Subluxation or Fixation Introduction/Etiology/Epidemiology

•• Atlantoaxial rotatory subluxation, also known as atlantoaxial rotatory fixation,

may be a cause of torticollis in older children (acquired torticollis), but it is not common. •• Regional inflammation or trauma can precipitate rotatory subluxation of the C1 facet joints relative to C2, which may become fixed, with an associated torticollis. ——Grisel syndrome, also referred to as viral torticollis, may follow an upper respiratory infection such as otitis media or pharyngitis. It produces inflammation that leads to ligament laxity at the atlantoaxial articulation. •• Atlantoaxial rotatory subluxation should be suspected in any case of new-onset, painful torticollis. •• It can present at any time during childhood, with a peak incidence between 6 and 8 years of age.

Signs and Symptoms

•• New-onset, fixed torticollis •• There may be a history of recent upper respiratory infection or recent trauma or surgery, although subluxation can happen spontaneously.

•• Pain may be associated, sometimes at rest, but especially while attempting to rotate the head toward the midline.

•• A spasm of the sternocleidomastoid muscle may be noted on the side

contralateral to the head tilt; this is the opposite of what is seen in congenital muscular torticollis.

Differential Diagnosis

•• Less common causes of new-onset, painful torticollis include ——Traumatic injuries, often minor ——Diskitis or osteomyelitis (see Chapter 7, Osteomyelitis) ——Osteoid osteoma or osteoblastoma (see Chapter 58, Common Benign Tumors)

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•• Eosinophilic granuloma ——Painful torticollis that occasionally presents with neurologic compromise ——Flattened vertebrae (vertebra plana) with bone lysis may be seen on cervical spine radiographs.

——Imaging usually confirms the diagnosis. ——Without neurologic involvement, symptoms typically resolve completely with

observation; alternatively, treatment is with a rigid cervical collar to decrease symptoms and maintain alignment. ——Observation, surgery, or medical therapy may be indicated when neurologic compromise is present. •• Cervical and posterior fossa tumors (neurogenic torticollis) ——The torticollis may be acquired or fixed or show rhythmic twisting. ——Photophobia, headache, weakness, and other neurologic signs may be associated (eg, syringomyelia, Arnold-Chiari malformation). •• Juvenile idiopathic arthritis (JIA) ——Neck pain because of cervical spine involvement occurs in about half of patients with polyarticular JIA and frequently in those with systemic onset disease. ——Torticollis is a less common presentation (about 1% of patients with JIA). ——Patients with JIA may be more prone to developing atlantoaxial rotatory subluxation. ——Other radiographic findings can include erosions of the odontoid, ankylosis of vertebrae, and subluxations in the lower cervical spine.

Diagnostic Considerations

•• Anteroposterior (AP) and lateral view radiographs of the cervical spine should be

ordered first if atlantoaxial rotatory subluxation is suspected. ——Oblique view of C1 and C2 may result; therefore, a lateral view of the skull may be helpful to determine the relationship of C1 and C2. ——Radiography and computed tomography (CT) scan may help differentiate between an atlantoaxial rotatory subluxation and the other conditions noted previously. •• CT scan of C1 and C2 is the definitive imaging study for the diagnosis of atlantoaxial rotatory subluxation. ——It will demonstrate a fixed relationship (with no reducibility) between the facets of C1 and C2, despite rotation in each direction (Figure 17-1).

Treatment

•• If symptoms have been present for less than 1 week ——The child may be treated with a soft collar, analgesics, rest, and heat. ——Frequently, spontaneous reduction may occur; however, it should not be

assumed, and appropriate follow-up must be facilitated. Delay in treatment can greatly decrease the likelihood of reduction with conservative measures. •• If symptoms have been present for longer than 1 week ——Spontaneous reduction is unlikely to occur. ——A full radiographic evaluation is needed, including AP lateral cervical spine radiographs and, commonly, CT scan.



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Figure 17-1. Computed tomography demonstrates a fixed subluxation between the facets of C1 and C2. ©2006 Kaissi AA, Chehida FB, Gharbi H, Ghachem MB, Grill F, Klaushofer K; licensee BioMed Central Ltd Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome. http://scoliosisjournal. biomedcentral.com/articles/10.1186/1748-7161-1-15. Published October 16, 2006. Accessed September 23, 2020.

——Use inpatient management with cervical halter traction, muscle relaxants, pain management, and close clinical follow-up.

——Reduction is heralded by improved rotational range of motion in the previously restricted direction, and it may be confirmed with a follow-up CT scan.

——Post-reduction management consists of continued nonsteroidal anti-

inflammatory drugs and use of a rigid cervical collar for 3 to 6 weeks.

——If halter traction does not yield a reduction, a halo is applied to allow greater

traction weight to be applied to facilitate reduction. Reduction is followed by halo vest immobilization for 6 to 12 weeks. ——Finally, if use of halo traction does not facilitate reduction, or if reduction cannot be maintained, atlantoaxial arthrodesis may be performed.

Expected Outcomes/Prognosis

•• When reduced promptly, the likelihood of recurrence is low. •• The greater the delay to reduction, the greater the likelihood of requiring more aggressive means to achieve reduction.

When to Refer

•• Refer to a pediatric orthopaedic specialist promptly on diagnosis or suspicion of atlantoaxial rotatory subluxation.

Atlantoaxial Instability INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Atlantoaxial instability (AAI) occurs because of laxity of the transverse and alar ligaments that hold C1 and C2 close together or because of abnormal bony vertebral anatomy.

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•• Causes of AAI include ——Trauma ——Upper respiratory infection or infection after head/neck surgery ——Rheumatoid arthritis ——Congenital anomalies, syndromes, skeletal dysplasias, or metabolic disorders (eg, trisomy 21 syndrome)

•• Approximately 10% to 30% of children with trisomy 21 have AAI noted on lateral radiographs.

SIGNS AND SYMPTOMS

•• AAI may be symptomatic or asymptomatic. •• Only 1% to 2% of individuals with trisomy 21 will have symptomatic AAI. •• Symptoms may include ——Neck pain ——Limited range of motion ——Head tilt ——Fatigability/weakness ——Gait abnormalities ——Sensory changes ——Upper motor neuron signs, including spasticity, hyperreflexia, and clonus •• Symptoms are more frequently seen ——In girls ——In children younger than 10 years ——On a chronic rather than acute basis •• Symptoms may remain stable over time or, rarely, may progress. •• Risk for asymptomatic AAI to become symptomatic AAI has not been thoroughly proven.

DIFFERENTIAL DIAGNOSIS

•• Ankylosing spondylitis •• Neurofibromatosis •• Osteogenesis imperfecta •• Os odontoideum: separation of the odontoid process from the body of the axis ——Insufficient dens does not allow the transverse atlantal ligament to restrain atlantoaxial motion.

—— Etiology remains controversial; AAI may be seen in Morquio syndrome, multiple epiphyseal dysplasia, and trisomy 21.

DIAGNOSTIC CONSIDERATIONS

•• Lateral cervical spine radiographs will demonstrate greater than 5 mm of

displacement between the posterior portion of the anterior ring of C1 and the anterior aspect of the C2 odontoid process.

TREATMENT

•• Asymptomatic AAI requires no treatment. •• Surgical stabilization of the cervical spine is indicated for symptoms of spinal cord compression.



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EXPECTED OUTCOMES/PROGNOSIS

•• Asymptomatic individuals may have normal radiographic findings that become

abnormal with repeat imaging and vice versa. Abnormal findings reverting to normal over time is more common than the reverse. •• AAI can lead to spinal cord compression and catastrophic spinal cord injuries in children with trisomy 21. •• Unfortunately, clinical correlation between radiographic findings and neurologic abnormalities is not well documented. Current evidence suggests that neurologic abnormalities may be more predictive of progression and severe outcome than radiographic findings of asymptomatic AAI. As such, evidence regarding sports participation based on evaluation of radiographic findings of asymptomatic AAI is controversial. SPORTS PARTICIPATION AND SPECIAL OLYMPICS SCREENING FOR CHILDREN WITH TRISOMY 21

•• Special Olympics previously required cervical radiographs for all participants. •• Current rules, however, indicate that as long as the physician completes the

Special Olympics International Medical Form (see Resource for Physicians at the end of this chapter), athletes with and without Down syndrome who are free of symptoms of AAI are not required to undergo radiographic evaluation. •• If symptoms of AAI (neck pain, weakness, spasticity or change in tone, gait disturbance, hyperreflexia, bowel/bladder dysfunction, or myelopathy) are present, athletes must undergo neurologic assessment by a specialist in AAI and spinal cord compression (pediatric neurosurgeon or pediatric orthopaedic specialist with cervical spine expertise) to determine if they may safely participate. •• If the Special Olympics International Medical Form is not used, then cervical radiographs are required for participation. •• Lateral view radiographs as a screening evaluation have been questioned because of lack of reproducibility and variations in stability over time. Flexion lateral views may be more sensitive for AAI. •• Individuals with noted AAI are restricted from butterfly stroke, diving/swimming starts, diving, pentathlon, high jump, squat lifts, equestrian sports, artistic gymnastics, soccer, alpine skiing, and any warm-up exercise placing undue stress on the head and neck unless confirmed in writing by the athlete or parent/ guardian, with certification from 2 licensed medical professionals that the condition does not, in their judgment, preclude the athlete’s participation. •• These restrictions are aimed at avoiding excessive neck flexion that could theoretically lead to cord compression in an individual with AAI. •• The American Academy of Pediatrics (AAP) has historically supported this decision, although it acknowledges the lack of evidence supporting routine screening of individuals with trisomy 21 for AAI. ——As of 2020, AAP recommendations include no routine screening for athletes with Down syndrome who are asymptomatic for AAI, but the recommendations advise caution regarding injury risk with American football, soccer, and gymnastics. ——The AAP recommends against trampoline use in all children younger than 6 years, and for trampoline use in older children only under direct supervision.

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•• A good history and screening for neurologic symptoms related to AAI may be

the most important prognostic tool the physician can offer athletes with trisomy 21. In symptomatic patients, cervical radiographs with the neck in neutral are indicated, followed by referral to a pediatric neurosurgeon or pediatric orthopaedic specialist with cervical spine expertise.

RESOURCES FOR PHYSICIANS

•• Special Olympics International Medical Form (http://media.specialolympics.

org/resources/health/disciplines/medfest/MedFest-Health-History-and-PhysicalExam-Form-NON-US-Programs-fillable.pdf) •• Special Olympics Medical Form for US Programs (https://media.specialolympics. org/resources/leading-a-program/registration-forms/SOI_Medical%20Form_ US%20Programs_July2017.pdf)

Bibliography—Part 7 Bethem D, Winter RB, Lutter L. Disorders of the spine in diastrophic dwarfism. J Bone Joint Surg Am. 1980;62(4):529–536 Binder H, Eng GD, Gaiser JF, Koch B. Congenital muscular torticollis: results of conservative management with long-term follow-up in 85 cases. Arch Phys Med Rehabil. 1987;68(4):222–225 Bixenman WW. Diagnosis of superior oblique palsy. J Clin Neuroophthalmol. 1981;1(3):199–208 Booth TN. Cervical spine evaluation in pediatric trauma. AJR Am J Roentgenol. 2012;198(5): W417–W427 Bratt HD, Menelaus MB. Benign paroxysmal torticollis of infancy. J Bone Joint Surg Br. 1992;74(3):449–451 Brockmeyer D. Down syndrome and craniovertebral instability. Topic review and treatment recommendations. Pediatr Neurosurg. 1999;31(2):71–77 Brown CW, Jarvis JG, Letts M, Carpenter B. Treatment and outcome of vertebral Langerhans cell histiocytosis at the Children’s Hospital of Eastern Ontario. Can J Surg. 2005;48(3):230–236 Bull MJ; American Academy of Pediatrics Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406 Canale ST, Griffin DW, Hubbard CN. Congenital muscular torticollis. A long-term follow-up. J Bone Joint Surg Am. 1982;64(6):810–816 Chan YL, Cheng JC, Metreweli C. Ultrasonography of congenital muscular torticollis. Pediatr Radiol. 1992;22(5):356–360 Chandler FA. Congenital muscular torticollis. Bull Hosp Joint Dis. 1953;14(2):158–171 Cheng JC, Au AW. Infantile torticollis: a review of 624 cases. J Pediatr Orthop. 1994;14(6):802–808 Cheng JC, Tang SP. Outcome of surgical treatment of congenital muscular torticollis. Clin Orthop Relat Res. 1999;362:190–200 Cheng JC, Wong MW, Tang SP, Chen TM, Shum SL, Wong EM. Clinical determinants of the outcome of manual stretching in the treatment of congenital muscular torticollis in infants. A prospective study of eight hundred and twenty-one cases. J Bone Joint Surg Am. 2001;83(5):679–687 Davids JR, Wenger DR, Mubarak SJ. Congenital muscular torticollis: sequela of intrauterine or perinatal compartment syndrome. J Pediatr Orthop. 1993;13(2):141–147 Demirbilek S, Atayurt HF. Congenital muscular torticollis and sternomastoid tumor: results of nonoperative treatment. J Pediatr Surg. 1999;34(4):549–551



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Drigo P, Carli G, Laverda AM. Benign paroxysmal torticollis of infancy. Brain Dev. 2000;22(3):169–172 Dudkiewicz I, Ganel A, Blankstein A. Congenital muscular torticollis in infants: ultrasound-assisted diagnosis and evaluation. J Pediatr Orthop. 2005;25(6):812–814 Fried JA, Athreya B, Gregg JR, Das M, Doughty R. The cervical spine in juvenile rheumatoid arthritis. Clin Orthop Relat Res. 1983;179(1):102–106 Girodias JB, Azouz EM, Marton D. Intervertebral disk space calcification. A report of 51 children with a review of the literature. Pediatr Radiol. 1991;21(8):541–546 Gray SW, Romaine CB, Skandalakis JE. Congenital fusion of the cervical vertebrae. Surg Gynecol Obstet. 1964;118:373–385 Healey D, Letts M, Jarvis JG. Cervical spine instability in children with Goldenhar’s syndrome. Can J Surg. 2002;45(5):341–344 Helmi C, Pruzansky S. Craniofacial and extracranial malformations in the Klippel-Feil syndrome. Cleft Palate J. 1980;17(1):65–88 Hensinger RN, DeVito PD, Ragsdale CG. Changes in the cervical spine in juvenile rheumatoid arthritis. J Bone Joint Surg Am. 1986;68(2):189–198 Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome: a constellation of associated anomalies. J Bone Joint Surg Am. 1974;56(6):1246–1253 Herman MJ. Torticollis in infants and children: common and unusual causes. Instr Course Lect. 2006;55:647–653 Herman MJ, Brown KO, Sponseller PD, et al. Pediatric cervical spine clearance: a consensus statement and algorithm from the Pediatric Cervical Spine Clearance Working Group. J Bone Joint Surg Am. 2019;101(1):e1 Herring JA. Tachdjian’s Pediatric Orthopaedics. 3rd ed. Philadelphia, PA: WB Saunders; 2002 Hobbs WR, Sponseller PD, Weiss AP, Pyeritz RE. The cervical spine in Marfan syndrome. Spine (Phila Pa 1976). 1997;22(9):983–989 Hsu TC, Wang CL, Wong MK, Hsu KH, Tang FT, Chen HT. Correlation of clinical and ultrasonographic features in congenital muscular torticollis. Arch Phys Med Rehabil. 1999;80(6):637–641 Hummer CD Jr, MacEwen GD. The coexistence of torticollis and congenital dysplasia of the hip. J Bone Joint Surg Am. 1972;54(6):1255–1256 Ippolito E, Tudisco C, Massobrio M. Long-term results of open sternocleidomastoid tenotomy for idiopathic muscular torticollis. J Bone Joint Surg Am. 1985;67(1):30–38 Johnston CE II, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syndrome. J Bone Joint Surg Am. 1996;78(4):538–545 Keuter EJ. Non-traumatic atlanto-axial dislocation associated with nasopharyngeal infections (Grisel’s disease). Acta Neurochir (Wien). 1969;21(1):11–22 Kumandas¸ S, Per H, Gümüs¸ H, et al. Torticollis secondary to posterior fossa and cervical spinal cord tumors: report of five cases and literature review. Neurosurg Rev. 2006;29(4):333–338 Lin JN, Chou ML. Ultrasonographic study of the sternocleidomastoid muscle in the management of congenital muscular torticollis. J Pediatr Surg. 1997;32(11):1648–1651 Ling CM. The influence of age on the results of open sternomastoid tenotomy in muscular torticollis. Clin Orthop Relat Res. 1976;116:142–148 Lustrin ES, Karakas SP, Ortiz AO, et al. Pediatric cervical spine: normal anatomy, variants, and trauma. Radiographics. 2003;23(3):539–560 MacEwen D. Proceedings: The Klippel-Feil syndrome. J Bone Joint Surg Br. 1975;57(2):261

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Morrison DL, MacEwen GD. Congenital muscular torticollis: observations regarding clinical findings, associated conditions, and results of treatment. J Pediatr Orthop. 1982;2(5):500–505 Murphy WJ, Gellis SS. Torticollis with hiatus hernia in infancy. Sandifer syndrome. Am J Dis Child. 1977;131(5):564–565 Neal KM, Mohamed AS. Atlantoaxial rotatory subluxation in children. J Am Acad Orthop Surg. 2015;23(6):382–392 Nucci P, Kushner BJ, Serafino M, Orzalesi N. A multi-disciplinary study of the ocular, orthopedic, and neurologic causes of abnormal head postures in children. Am J Ophthalmol. 2005;140(1):65. e1–65.e6 Phillips WA, Hensinger RN. The management of rotatory atlanto-axial subluxation in children. J Bone Joint Surg Am. 1989;71(5):664–668 Pizzutillo PD, Woods M, Nicholson L, MacEwen GD. Risk factors in Klippel-Feil syndrome. Spine (Phila Pa 1976). 1994;19(18):2110–2116 Porter SB, Blount BW. Pseudotumor of infancy and congenital muscular torticollis. Am Fam Physician. 1995;52(6):1731–1736 Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down syndrome: epidemiologic, radiographic, and clinical studies. Pediatrics. 1987;80(4):555–560 Ramenofsky ML, Buyse M, Goldberg MJ, Leape LL. Gastroesophageal reflux and torticollis. J Bone Joint Surg Am. 1978;60(8):1140–1141 Rouvreau P, Glorion C, Langlais J, Noury H, Pouliquen JC. Assessment and neurologic involvement of patients with cervical spine congenital synostosis as in Klippel-Feil syndrome: study of 19 cases. J Pediatr Orthop B. 1998;7(3):179–185 Sonnabend DH, Taylor TK, Chapman GK. Intervertebral disc calcification syndromes in children. J Bone Joint Surg Br. 1982;64(1):25–31 Svensson O, Aaro S. Cervical instability in skeletal dysplasia. Report of 6 surgically fused cases. Acta Orthop Scand. 1988;59(1):66–70 Theiss SM, Smith MD, Winter RB. The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis. Spine (Phila Pa 1976). 1997;22(11):1219–1222 Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine (Phila Pa 1976). 1997;22(4):396–401 Tomczak KK, Rosman NP. Torticollis. J Child Neurol. 2013;28(3):365–378 Torticollis. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1215–1219 Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;424:183–190 von Heideken J, Green DW, Burke SW, et al. The relationship between developmental dysplasia of the hip and congenital muscular torticollis. J Pediatr Orthop. 2006;26(6):805–808 Walsh JJ, Morrissy RT. Torticollis and hip dislocation. J Pediatr Orthop. 1998;18(2):219–221 Wetzel FT, La Rocca H. Grisel’s syndrome. Clin Orthop Relat Res. 1989;(240):141–152 Wong CC, Pereira B, Pho RW. Cervical disc calcification in children. A long-term review. Spine (Phila Pa 1976). 1992;17(2):139–144 Yong-Hing K, Kalamchi A, MacEwen GD. Cervical spine abnormalities in neurofibromatosis. J Bone Joint Surg Am. 1979;61(5):695–699

Part 8: Hip Disorders TOPICS COVERED 18. Developmental Dysplasia of the Hip.......................................... 19. Perthes Disease...................................................................... 20. Slipped Capital Femoral Epiphysis............................................ 21. Snapping Hip......................................................................... 22. Femoroacetabular Impingement...............................................

189 195 199 205 211



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CHAPTER 18

Developmental Dysplasia of the Hip Introduction/Etiology/Epidemiology

•• Developmental dysplasia of the hip (DDH) encompasses a broad spectrum of hip disorders representing varying degrees of distortion in the relationship between the femoral head and acetabulum. •• These disorders range from radiologic diagnosis with normal examination findings to clinically dislocated hip. •• Most children are diagnosed as infants, but initial detection may occur at almost any age. •• Incidence of unstable hip is 1 to 1.5 per 1,000 live births; incidence is higher if defined by changes detected on ultrasonography and not gross dislocation. •• It may also be seen in association with neuromuscular disorders (eg, cerebral palsy, arthrogryposis, spina bifida). •• Etiology is multifactorial with mechanical and biologic causes •• Risk factors include breech positioning, ligamentous laxity, female sex, first born, family history, oligohydramnios, postnatal positioning (eg, hips held in adduction in papoose), and race (most common in white individuals and Native American groups).

Signs and Symptoms

•• Symptoms depend on the age of the child. ——Infants and toddlers are typically asymptomatic. DDH may be associated

with other intrauterine molding disorders, such as metatarsus adductus and torticollis. ——School-aged children may have some vague activity-related discomfort caused by leg-length discrepancy. ——Teenagers and young adults are usually asymptomatic but may have activityrelated groin or buttock pain. •• Dislocated hip may demonstrate decreased abduction, with less than 60 degrees in infants being highly suspicious after 6 weeks of age.

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Differential Diagnosis

•• In infants or walking children, the leg shortening or hip instability may be related to congenital coxa vara, congenital short femur, or proximal femoral focal deficiency. Post-septic hip dislocation can also occur and result in limp and hip instability. •• In the older child, other etiologies of hip or knee pain should be considered, including slipped capital femoral epiphysis and Perthes disease.

Diagnostic Considerations

•• Infants younger than 6 months ——In newborns, the proximal femoral epiphysis (upper femur) is not ossified, limiting the usefulness of plain radiographs.

——Ultrasonography „„Useful

for assessing anatomy and following treatment in this age group for a static and dynamic examination „„Screening before 6 weeks of age may be overly sensitive and result in overtreatment. ——Ortolani sign: Considered positive when a hip that is dislocated can be reduced and felt as a clunk. Occurs by bringing the involved hip into a flexed and abducted position (Figure 18-1, A). ——Barlow sign: Positive when a reduced hip can be dislocated by clunk associated with flexion and adduction of the hip (Figure 18-1, B). ——Galeazzi sign: Adduct both hips so that the thighs are vertical and assess the knee heights. Asymmetry indicates a unilaterally shortened thigh segment and is a positive Galeazzi sign (see Chapter 4, Physical Examination, Figure 4-23). ——Klisic sign: Helpful with bilateral dislocated hips. „„A line drawn on the child from the tip of the greater trochanter to the ipsilateral anterior superior iliac spine should pass above the umbilicus. „„If the line passes below the umbilicus, the hip is likely dislocated. •• Children older than 6 months ——Once a child is older than 6 months, DDH can be assessed with radiography (Figure 18-2). „„Allows

Figure 18-1. Technique for performing the Ortolani and Barlow maneuvers. The Ortolani sign is obtained by gently abducting the leg and a palpable “clunk” is felt as the femoral head slides over the posterior rim of the acetabulum into the socket. This is called the sign of entry. The Barlow provocative test is done by adducting the hip and pushing gently on the knee and a palpable “clunk” is felt as the femoral head slides over the posterior rim of the acetabulum and out of the socket. This is called the sign of exit. From Aronsson DD, Goldberg MJ, Kling TF Jr, Roy DR. Developmental dysplasia of the hip. Pediatrics. 1994;94:201–208.



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Figure 18-2. A, An anteroposterior pelvis radiograph of an 8-month-old infant with developmental dysplasia of the hip (DDH) on the right. B, The drawing of the radiograph shows Hilgenreiner line connecting the top of the triradiate cartilages. Perkins line is perpendicular to Hilgenreiner line through the lateral ossified margin of the acetabulum. Shenton line forms a continuous contour between the obturator foramen and the medial border of the femoral neck. There is DDH on the right with a delay in the appearance of the ossific nucleus, lateral displacement of the proximal femoral metaphysis, an elevated acetabular index (40°), and a “break” in Shenton line. From Aronsson DD. Goldberg MJ, Kling TF Jr, Roy DR. Developmental dysplasia of the hip. Pediatrics. 1994;94:201–208.

——An anteroposterior view of the pelvis is typically obtained with the legs in neutral position and in a frog lateral position.

——Arthrography is a dynamic study typically done in the operating room that

involves injecting contrast dye into the joint to see the outline of the cartilage and soft tissue structures of the joint. ——Computed tomography can be useful to assess reduction in a spica cast or for planning reconstructive osteotomies. ——Magnetic resonance imaging is useful for confirming reduction of the hip in a spica cast; in an older child, it may identify other causes of pain, such as labral or chondral injuries.

Treatment

•• Goals are to obtain and maintain a concentrically reduced hip joint and avoid complications

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•• Treatment is based on the principle that placing the immature femoral head and acetabulum together positively influences the development of both.

•• Remodeling potential is related to age, so early diagnosis usually results in less need for invasive procedures.

•• A high rate of resolution of hip instability is seen in the immediate perinatal period.

•• Infants with clinical instability (positive Barlow/Ortolani) are treated with

abduction bracing, typically in a Pavlik harness. ——The Pavlik harness is a dynamic brace that keeps the legs flexed and abducted, preventing extension and adduction, holding the legs flexed and abducted to hold concentric hip reduction. ——Harness treatment typically lasts for 6 to 12 weeks. ——Avoid extremes of leg positioning, which may result in femoral nerve injury or avascular necrosis of the proximal femoral epiphysis. •• Children aged 6 to 18 months typically require closed reduction and arthrography in the operating room with placement of a hip spica cast. ——The cast is changed every 4 to 6 weeks. ——Cast treatment typically lasts 2 to 4 months, followed by bracing for several months. ——If the hip remains irreducible or unstable, open reduction is performed. •• Open reduction is performed in those patients with hips that cannot safely be reduced by closed methods. ——These children are usually walking but not yet in primary school. ——Other procedures, such as adductor tenotomy and femoral shortening osteotomy, may be required in addition to open reduction to avoid excessive pressure on the hip following reduction. •• Following reduction of the hip, acetabular remodeling should occur to give the hip a more normal shape. Incomplete remodeling with growth may require additional procedures, such as pelvic osteotomy, to reorient the acetabulum. Pelvic osteotomies are usually performed from age 18 months to adulthood.

Expected Outcomes/Prognosis

•• DDH is a spectrum of conditions, so outcomes also follow a spectrum from normal hip to early arthritis.

•• Long-term sequelae are dependent on the degree of deformity and age at intervention (younger age is associated with better outcomes).

•• Unilateral dislocation reductions are done in a child up to 8 years of age, with bilateral dislocations done up to 6 years of age.

•• Unilateral dislocation ——Typically results in leg-length discrepancy and can lead to altered gait mechanics, scoliosis, and lower back symptoms

——Hip pain and degenerative arthritis typically develop in the fourth decade.

•• Bilateral dislocations ——Lead to lordosis of the lumbar spine and a waddling gait ——Individuals may function well into the sixth decade.



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•• A persistently subluxated hip leads to increased force concentration on the lateral

edge of the acetabulum, predisposing to early arthritis in the fourth decade of life.

Prevention

•• Universal screening at birth is highly effective but not 100% sensitive. Certain

countries that mandate screening have been successful in identifying children with DDH with universal screening programs.

When to Refer

•• Infants and children with DDH should be referred to a pediatric orthopaedic surgeon at time of diagnosis or when instability is detected on clinical examination.

Resource for Physicians and Families

•• https://orthoinfo.aaos.org/topic.cfm?topic=A00347

CHAPTER 19

Perthes Disease Introduction/Etiology/Epidemiology

•• Perthes disease develops secondary to a disruption of blood supply to the proximal femoral epiphysis at the hip.

•• It generally affects children between 4 and 9 years of age but can be seen in children as young as 2 or as old as 11 years.

•• It is more common in males than in females (4–5:1). •• It is typically unilateral (85% of patients). •• Commonly seen in very active children •• Etiology is unknown; proposed mechanisms include minor trauma, exposure to secondhand smoke, hypercoagulability, environment, and heredity.

Signs and Symptoms

•• Patients typically present with gradual onset of a limp or activity-related thigh or knee pain. Always consider hip etiology in a limping child with knee pain.

•• Some patients report hip discomfort. •• Physical examination shows guarding at the extremes of hip range of motion, limited hip abduction and internal rotation, and antalgic gait.

•• Some patients may have a hip flexion contracture.

Differential Diagnosis

•• Transient synovitis of the hip •• Septic arthritis •• Developmental dysplasia of the hip •• Multiple epiphyseal dysplasia or other skeletal dysplasia •• Sickle cell disease •• Corticosteroid-induced osteonecrosis •• Juvenile idiopathic arthritis •• Slipped capital femoral epiphysis •• Muscle strain or apophysitis of pelvis should be considered in cases with acute onset during activity, especially in adolescents.

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Diagnostic Considerations

•• Perthes disease is a diagnosis of exclusion; diagnosis is established on radiographs. ——Obtain anteroposterior (AP) and frog lateral views of both hips. ——Disease progresses through 4 radiographic stages: early stage, fragmentation stage, reossification stage, and healed stage

——In early stages, radiographs will demonstrate increased density of the involved

epiphysis with smaller epiphysis due to vascular change, and possible slight flattening of the top of the epiphysis (best seen on lateral view). ——The next stage is fragmentation of the epiphysis, which may demonstrate a subchondral lucency on the epiphysis (crescent sign), or the epiphysis may look as though it is collapsing (Figure 19-1). ——In the fragmentation stage, severity is based on degree of femoral head involvement as defined by lateral pillar classification on AP view. The height of the lateral third of the epiphysis is compared with the uninvolved side (Figure 19-2). „„Group A: no loss of height „„Group B: less than 50% loss of height „„Group C: more than 50% loss of height •• Magnetic resonance imaging is not necessary for diagnosis but may be used in specific indications, such as assessing the severity of the disease in the early stage before fragmentation or assessing cartilage and labral pathology at the healed stage in older adolescent symptomatic patients. •• Laboratory workup may include complete blood cell count, erythrocyte sedimentation rate, and C-reactive protein level if there is concern for acute etiology such as infection; or Lyme titers and rheumatologic panel if there is concern for juvenile idiopathic arthritis.

Figure 19-1. Anteroposterior (A) and frog lateral (B) radiographs of a patient with Perthes disease. Note the difference in the proximal femur when viewing A and B. Collapse and increased density of the proximal epiphysis is evident on both views.



Chapter 19: Perthes Disease

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Figure 19-2. The lateral pillar (Herring) classification of Perthes disease. The epiphysis is divided into 3 segments. The most lateral aspect (shaded area in Group A, Group B, and Group C panels) is analyzed with respect to height. Normal pillar is depicted. Group A is a normal height. In group B, more than 50% of the lateral pillar is maintained; in group C, less than 50% of the height to lateral pillar is maintained. The lateral pillar B-C border is between B and C (not pictured).

Treatment

•• There is no consensus on what constitutes the best treatment. •• Treatment varies depending on the age at onset, stage of disease, symptoms, range of motion, and amount of femoral head involvement.

•• Goals of treatment are to maintain good hip motion and to contain the hip

(ie, keeping the extruding, lateral portion of the epiphysis in the acetabulum). The acetabulum serves as a mold to help the head remodel as spherically as possible. •• Limited weight bearing and activity restrictions are important when the hip is symptomatic. Nonsteroidal anti-inflammatory drugs should be used judiciously, and prolonged use should be avoided. •• Nonsurgical treatment includes non-weight bearing with crutches or wheelchair use, gentle physical therapy to maintain hip motion, daily home stretching with a focus on maintaining hip abduction, and bracing or casting to regain hip motion. •• Surgical treatment includes a proximal femoral varus osteotomy or an acetabular reconstruction surgery to contain the femoral head.

Expected Outcomes/Prognosis

•• Outcomes for children younger than 6 years of age at onset are generally favorable without the need for treatment or intervention.

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•• Outcomes for children older than 6 years of age at onset are variable and largely

dependent on the amount of femoral head collapse. Older age at onset ( > 8 years) and greater amount of collapse are associated with poorer outcome. •• Long-term prognosis is dependent on the overall shape of the femoral head at the time of healing and is assessed by Stulberg radiographic outcome classification. ——Stulberg 1 and 2 hips have a round femoral head and a generally good prognosis. ——Stulberg 3, 4, and 5 hips have an ovoid to flat femoral head and a generally higher risk of early osteoarthritis; these patients may require hip arthroplasty as young adults.

When to Refer

•• All patients with a new diagnosis of Perthes disease should be referred to a pediatric orthopaedic specialist at the time of diagnosis.

Resource for Physicians and Families

•• https://orthoinfo.aaos.org/topic.cfm?topic=A00070

CHAPTER 20

Slipped Capital Femoral Epiphysis Introduction/Etiology/Epidemiology

•• Slipped capital femoral epiphysis (SCFE) is a pediatric/adolescent hip condition in

which a movement or slipping occurs at the growth plate (physis) of the femur so that the epiphysis (ball part) slips posterior and inferior relative to the metaphysis (neck part), which shifts and displaces anterior. •• The incidence is considered somewhat common, approximately 2 per 100,000. •• The age range is typically 12 to 15 years for boys and 11 to 13 years for girls. •• SCFE is more common in boys (60%) and more common in the left hip, and it is bilateral in 25% of cases. It is seasonal and occurs more commonly in the summer months. •• Increased body mass index (BMI) (including obesity) is a risk factor, with more than half of all patients with SCFE at or above the 95th percentile for weight for their age. •• Morphologic characteristics predisposing to SCFE include deeper acetabulum, preexisting increased femoral retroversion, and increased physeal obliquity all contributing to increased shear forces across the physis. •• Endocrine abnormality etiologies account for 5% to 8% of SCFE and are more likely in those outside the typical age range (< 10 or > 15 years; “atypical SCFE”). ——Testosterone decreases, while estrogen increases physeal strength. ——Proper development of the physis requires thyroid hormone, vitamin D, and calcium. Thus, hypothyroidism and renal osteodystrophy have been associated with SCFE.

Signs and Symptoms

•• Patients typically present in early adolescence. •• The most common presentation is a patient with increased BMI and insidious

onset of a limp, with thigh and/or knee pain. Often the foot is externally rotated compared to the other leg. •• This is a stable SCFE. Patients are able to walk (weight bear) with or without the aid of crutches.

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•• Unstable SCFE, the less common presentation, is one in which the patient has

significant pain, cannot weight bear due to pain, and is unable to travel from point A to point B on their own (with or without crutches). Many of these patients report intermittent milder pain prior to it getting acutely worse. •• Knee pain may be the only presenting symptom. It is important and medically indicated to evaluate the hip of the adolescent patient who presents with knee pain. •• The physical examination for the stable SCFE is characterized by “obligate external rotation” with attempts at hip flexion (knee to shoulder sign; see Figure 20-1). This occurs when the hip is flexed keeping the femur rotation in neutral.

Differential Diagnosis

•• Perthes disease •• Septic arthritis •• Transient synovitis of the hip •• Developmental dysplasia of the hip •• Femoral stress fracture should be considered in cases preceded by repetitive overuse, such as running, especially in adolescents.

•• Muscle strain or pelvic avulsion fracture should be considered in cases with acute onset during activity, especially in adolescents.

Diagnostic Considerations

•• Diagnosis is made with an appropriate history, physical examination, and

radiographs (2 views: anteroposterior [AP] and frog lateral of the pelvis). ——Radiographic diagnosis is made on an AP radiograph. The imaging features are a widened physis and a shorter height of the epiphysis (as it is slipped relatively posterior), and Klein line drawn on the superior femoral neck does not intersect the epiphysis (Figure 20-2, A). ——The diagnosis is confirmed on the frog leg pelvis radiograph. The imaging findings include the posterior displaced epiphysis on the metaphysis. It is critical to view the opposite side to see if a contralateral SCFE is present, which occurs in up to 25% of patients with SCFE (Figure 20-2, B). Figure 20-1. A, The patient’s left hip remains in neutral rotation as the hip is flexed to 90 degrees. B, The patient’s right hip demonstrates obligatory external rotation: the hip rotates externally as it is flexed to 90 degrees. From Karkenny AJ, Tauberg BM, Otsuka NY. Pediatric hip disorders: slipped capital femoral epiphysis and LeggCalvé-Perthes disease. Pediatr Rev. 2018;39(9):454–463.



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Figure 20-2. Pelvis radiograph of an 11-year-old child with right-sided groin and knee pain. Standing anteroposterior radiograph shows a slightly widened physis and shorter epiphyseal height, and Klein line does not intersect the epiphysis (compare to the left side). Arrows indicate Klein line.

•• Magnetic resonance imaging of the hips and pelvis ——Is rarely indicated because an appropriate history, physical examination, and

2 radiographic views are typically sufficient. Indications include cases with minimal findings on plain radiographs. ——Reveals increased signal along both sides of the physis. •• Classification ——Slip severity is defined by the amount of displacement of the proximal femoral relative to the capital femoral epiphysis (Figure 20-3). „„Mild: less than 33% slip „„Moderate: 33% to 50% slip „„Severe: greater than 50% slip ——SCFE may be categorized as stable or unstable, a classification that helps guide treatment. „„Stable SCFE: The patient is able to bear weight on the affected extremity. „„Unstable SCFE: The patient is unable to weight bear or move from one place to another. If they are able to weight bear with crutches, then this is considered a stable SCFE. •• Consider endocrine abnormality etiologies in all patients, especially those outside the typical age range.

Treatment

•• Patients diagnosed with SCFE are immediately instructed to begin non-weight

bearing on the affected extremity (eg, wheelchair, crutches, walker, bed rest) and are referred to an orthopaedic surgeon for urgent treatment.

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Figure 20-3. The 3 grades of slipped capital femoral epiphysis based on radiographic findings: grade I, displacement 50%. Abbreviation: AP, anteroposterior. From Lasanianos NG, Giannoudis PV. Slipped capital femoral epiphysis. In: Lasanianos NG, Kanakaris NK, Giannoudis PV, eds. Trauma and Orthopaedic Classifications: A Comprehensive Overview. London, England: Springer-Verlag; 2015: 439–443.

•• Untreated stable SCFE may progress to an unstable SCFE, which leads to a

dramatic increase in the risk of complications: Osteonecrosis (avascular necrosis [AVN]), chondrolysis, and/or degenerative joint disease is associated with unstable SCFE. •• Stable SCFE (Figure 20-4). ——Surgical method of treatment is percutaneous in situ fixation with a single screw under general anesthesia using a fully threaded screw placed into the central portion of the head. ——Postoperatively, patients are usually prescribed protected weight bearing for 4 to 6 weeks with crutches, followed by weight bearing as tolerated. ——Other uncommon treatment options include open bone graft epiphysiodesis, multiple pin fixation, and spica casting (no longer done). •• Unstable SCFE (Figure 20-5) ——Fixation is similar; however, consensus is that urgency for treatment is greater (stemming from compromise of the blood supply to the femoral head occurring in unstable slips) with increased risk for late osteonecrosis. ——Surgeons may improve the position of the slip degree when examining the hip under anesthesia, thus performing a partial reduction; stabilization is then done with fixation of 1 or 2 accurately placed screws. The procedure may uncommonly be performed using open techniques, depending on the indications. ——In select cases, treatment may include larger open procedures to restore more anatomic alignment, but these are severe cases that should only be operated on at centers with staff experienced with the technique. ——It is important for the surgeon to aspirate or decompress the hip joint capsule of the hematoma at the time of surgery and general anesthesia.



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Figure 20-4. Anteroposterior (A) and frog leg (B) radiographs of the pelvis following in situ pinning of the right stable slipped capital femoral epiphysis and prophylactic pinning of the left hip.

Figure 20-5. Unstable slipped capital femoral epiphysis in an 11-year-old girl. A, Supine anteroposterior (AP) radiograph demonstrates nearly complete displacement of the epiphysis from the metaphysis of the right hip. The left hip is normal. B, Supine AP radiograph obtained 1 year after in situ fixation of the right hip with 2 screws and decompression of the hip joint capsule at the time of surgery. The hip demonstrates a nice round femoral head without any evidence of avascular necrosis of the femoral epiphysis.

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——Following surgery, patients are made non-weight bearing on the affected

extremity for 6 to 12 weeks (crutches or walker) to keep stress off the hip joint, the repair, and the femoral head surface in the event of a developing avascular necrosis. ——If bilateral SCFE is performed, then screw fixation of both hips is advised. ——Prophylactic pinning of a contralateral hip may be advised when patients are very young, such as when the triradiate cartilage (growth plate of the acetabulum) is open on imaging, or in cases associated with underlying metabolic abnormalities.

Expected Outcomes/Prognosis

•• Long-term outcomes are favorable with normal hip function in the uncomplicated case.

•• Severity of slip at the time of diagnosis may affect outcome, with moderate to

severe slips having increased risk for complications, including late osteonecrosis, degenerative joint changes, and chondrolysis. •• Patients may demonstrate limited internal rotation and hip flexion after in situ fixation; however, this limitation may get better as a result of bone and joint remodeling with time. •• If disabling, a number of corrective orthopaedic surgical procedures may be undertaken.

When to Refer

•• Patients diagnosed with SCFE should be immediately made non-weight bearing on the affected extremity (eg, wheelchair, crutches, walker, bed rest) and referred to an orthopaedic surgeon for urgent treatment. •• Any patient with a history of SCFE and associated hip pain should be referred for evaluation.

CHAPTER 21

Snapping Hip Introduction/Etiology/Epidemiology

•• Snapping hip is an audible, sometimes painful, snapping sensation in the hip area. •• Snapping may be internal or external. •• Internal snapping hip (discussed in Chapter 22, Femoroacetabular Impingement) is caused by pathologies within the joint, such as labral tears or loose bodies.

•• External snapping hip (discussed herein), also referred to as “coxa saltans” or

“dancer’s hip,” is caused by pathology outside the joint. The 2 types of extraarticular snapping hip are as follows: ——External snapping hip (coxa saltans externa): a tight or inflamed iliotibial (IT) band snaps across the greater trochanter. ——Internal snapping hip (coxa saltans interna): a tight or inflamed iliopsoas tendon subluxates over the iliopectineal eminence or anterior aspect of the femoral head (Figures 21-1 and 21-2).

Figure 21-1. A portion of the psoas, running outside the joint (in most cases), becomes symptomatic, in that it tightens, causing it to snap (internal snapping hip) across the iliopectineal eminence, the rim of the acetabulum, or the femoral head. The psoas itself can become painful from this repetitive motion. In other cases, the psoas compresses the labrum, resulting in compression and sometimes tearing of the labral tissue due to the close proximity of the 2 structures. Copyright Randal S. McKenzie. Used with permission.

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Figure 21-2. Fifteen-year-old girl with snapping left hip, referred for magnetic resonance imaging to see if snapping is intra-articular (usually due to a labral tear) or extra-articular in origin. A, Oblique axial T2-weighted image reveals local soft tissue edema (red arrow) associated with the iliopsoas tendon (yellow arrow). B, Oblique coronal T2-weighted image confirms the edema (red arrows) tracking along the iliopsoas tendon (yellow arrow). Courtesy Vic David, MD.

——Internal snapping hip can present similarly to intra-articular hip pathology

because both cause anterior hip pain; however, it can be differentiated in most cases by physical examination. •• The snapping sensation can be painful, painless, and/or cause a sensation of relief. •• It can be unilateral or bilateral. •• It is most commonly caused by overuse; however, it can be precipitated by trauma. •• It usually presents during the adolescent growth spurt and is more common in girls than boys. •• Incidence is highest in athletes who perform repetitive hip flexion, such as gymnasts and dancers. •• A study of elite adolescent ballet dancers reported 91% of dancers had snapping hip, almost 80% of whom had bilateral symptoms.

External Snapping Hip SIGNS AND SYMPTOMS

•• Patients report pain or audible snapping on the lateral aspect of the hip with flexion and external rotation.

•• Onset is usually insidious but may also be triggered by direct trauma to the lateral hip.

•• On physical examination, pain and snapping can be reproduced when the patient

actively flexes and rotates the hip but not when the examiner passively moves the hip.



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•• Most patients can voluntarily reproduce the snapping. •• There is usually tenderness over the greater trochanter and proximal IT band. •• Commonly, there is weakness in hip abductor muscles (gluteus medius, tensor fascia lata), which can be demonstrated by a positive Trendelenburg test, and there may also be a tight IT band (positive Ober test).

DIFFERENTIAL DIAGNOSIS

•• Hip abductor muscle strain •• Trochanteric bursitis •• Greater trochanter apophysitis •• Avulsion DIAGNOSTIC CONSIDERATIONS

•• External snapping hip is a clinical diagnosis. Imaging is not required. •• Radiographs (anteroposterior [AP] view of the pelvis and frog lateral view of both hips) are indicated only to evaluate for other causes of hip pain in a patient with atypical signs and symptoms.

TREATMENT

•• Rest from irritating activities •• Nonsteroidal anti-inflammatory drugs •• A comprehensive physical therapy program for hip abductor muscle

strengthening, IT band stretching, and soft tissue massage to the tight IT band

•• For those with persistent pain limiting adherence to or participation in physical

therapy, consider injection of corticosteroid into the trochanteric bursa for symptomatic relief and to aid in participation in therapy. •• Surgical management is reserved for cases that are resistant to conservative treatment and is rarely indicated. Surgery may involve lengthening of the IT band to reduce tension. EXPECTED OUTCOMES/PROGNOSIS

•• The pain associated with external snapping hip usually resolves with physical therapy, but this may take 6 months or longer.

•• Full return to prior level of activity is expected. •• Many adolescents will also outgrow external snapping hip on reaching full skeletal maturity.

•• The snapping often persists even when pain is resolved. Prevalence of painless hip snapping in the general adult population is 5% to 10%. This does not pose any risk of long-term harm to the tissues.

WHEN TO REFER

•• Persistent symptoms despite several months of physical therapy

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PREVENTION

•• Maintain good hip muscle strength and flexibility. •• Limit repetitive hip flexion activities, when possible. •• For dancers, emphasis on proper technique with guidance from an experienced instructor can reduce risk for snapping and pain.

Internal Snapping Hip (See Figure 21-1) SIGNS AND SYMPTOMS

•• Patients report anterior (groin) hip pain and snapping with hip flexion or external rotation.

•• There may be tenderness in the groin over the iliopsoas tendon. •• Snapping can usually be voluntarily reproduced with active hip flexion alone or with flexion combined with external rotation.

•• Range of motion is usually normal, although flexion and external rotation may be limited because of pain.

•• Can frequently be identified on physical examination through reproduction of the snapping while taking the hip from a position of flexion, abduction, and external rotation to a position of extension, adduction, and internal rotation. •• There is commonly weakness in core and gluteal muscles (positive Trendelenburg sign) and a tight iliopsoas (positive Thomas test). DIFFERENTIAL DIAGNOSIS

•• Labral tear: The labrum is a layer of cartilage that forms a rim around the

acetabulum. It can be injured by direct trauma or overuse. On examination, a labral tear will usually cause pain with passive, rather than active, hip flexion, as well as pain with flexion, adduction, and internal rotation (FADIR test). •• Slipped capital femoral epiphysis •• Perthes disease •• Anterior inferior iliac spine apophysitis or avulsion •• Hip flexor or adductor muscle strain (groin pull) DIAGNOSTIC CONSIDERATIONS

•• While the diagnosis can be established clinically, radiographs (AP view of the

pelvis and frog lateral of both hips) should be obtained if there is concern for other causes of anterior hip pain. •• Radiographic findings are normal in internal snapping hip syndrome. •• Ultrasonography may demonstrate the subluxating iliopsoas tendon and correlate it with the presence of a snapping sound, pain, or sensation in real time. It may also show additional pathology, such as bursitis or tendinopathy. •• Magnetic resonance imaging of the hip can distinguish iliopsoas tendinitis from a labral tear (see Figure 21-2). Historically, this required intra-articular contrast (arthrogram), but now stronger MRI magnets (3T) are more readily available that can adequately visualize the labrum.



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TREATMENT

•• A rehabilitation program for hip muscle strengthening and stretching usually alleviates the pain, although the snapping may persist.

•• A corticosteroid injection of the iliopsoas tendon sheath may help patients with

persistent pain after physical therapy, and it also provides diagnostic utility in confirming the location of the pain. •• Surgical management is only for cases that are resistant to conservative treatment and is rarely indicated. Surgery may involve lengthening of the iliopsoas to reduce tension. EXPECTED OUTCOMES/PROGNOSIS

•• The pain usually resolves with physical therapy but may take 6 months or longer. •• The snapping often persists even when pain is resolved. Painless hip snapping occurs in 5% to 10% of the general adult population.

•• Full return to prior level of activity is expected. •• Rarely, recurrent snapping of the psoas tendon can sometimes cause impingement on the labrum and lead to labral tears.

WHEN TO REFER

•• Persistent symptoms despite several months of physical therapy PREVENTION

•• Same as for external snapping hip syndrome

CHAPTER 22

Femoroacetabular Impingement Introduction/Etiology

•• Femoroacetabular impingement (FAI) is a condition of the hip in which the femur

and/or acetabulum are mildly misshapen, resulting in abnormal contact between the two, which may generate symptoms due to chondral delamination, labral avulsions or tears, or joint degeneration. •• The 3 types of impingement are cam, pincer, and combined. •• Cam impingement (femur-based disorder) ——A nonspherical femoral head impinges on the acetabulum, causing pathology in the labrum and chondrolabral junction. ——Characterized by excess bone at the head-neck junction, typically the anterolateral neck ——Shear contact stress at joint level results in consequent cartilage wear. ——More common in young males •• Pincer impingement (acetabulum-based disorder) ——Overcoverage of the acetabulum results in excessive contact between the acetabular rim and the femoral neck. ——The anterosuperior acetabular overcoverage results in relative acetabular retroversion (posterior malorientation of the acetabulum in the sagittal plane). ——Contact stress between acetabular rim and femoral neck pinches the labrum and can result in a labral tear ——Common in middle-aged women •• Combined ——Patient has both cam and pincer deformities ——Most common form of impingement •• Symptoms may be more apparent in athletes who participate in repetitive activities that require increased hip range of motion (eg, gymnastics, soccer, dance, track and field) •• A slipped capital femoral epiphysis (see Chapter 20) can also result in abnormal anatomy that predisposes to impingement. •• Most children and adolescents are treated successfully with optimized physical therapy interventions.

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Signs and Symptoms

•• Patients report hip pain, typically in the groin, although it may radiate laterally to the greater trochanteric region or medially near the hip adductor muscles.

•• Extended periods of hip flexion, such as prolonged sitting, may result in exacerbation of symptoms.

•• Patients may experience limitations in hip range of motion, typically flexion and internal rotation.

•• Mechanical symptoms related to labral or chondral injury may include catching, popping, or clicking.

Differential Diagnosis

•• Chondral or labral injury not related to FAI •• Osteoarthritis •• Hip dysplasia •• Internal or external snapping hip •• Lumbar radiculopathy

Diagnostic Considerations PHYSICAL EXAMINATION

•• Examination may reveal a decrease in active and passive range of motion of

the hip. ——Typically, decreased flexion and internal rotation ——May exhibit greater external rotation than internal rotation •• Pain with impingement tests ——Flexion, adduction, and internal rotation (FADIR) will typically cause pain in cases of anterior impingement. •• Antalgic gait IMAGING

•• Radiographs ——Radiographs should be obtained in patients with symptoms consistent with FAI to evaluate the severity and help rule out other pathology.

——Up to 60% of young patients with hip pain will have radiographic findings

consistent with FAI, although FAI may not always be the cause of the pain.

——Anteroposterior pelvis, true lateral hip with leg in 15 degrees of internal

rotation, modified Dunn view, and false-profile views are typically obtained (Figure 22-1). „„May reveal abnormal contour of the femoral head or neck, acetabular retroversion or overgrowth, or both (Figure 22-2) ——Pistol grip deformity „„Result of nonspherical femoral head in cam impingement (Figure 22-3) ——Crossover sign „„Radiographic indicator of acetabular retroversion in which the anterior acetabular wall crosses lateral to the posterior wall (Figure 22-2)



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Figure 22-1. Radiographic workup of a hip, including anteroposterior pelvis (A), Dunn pelvis (B), frog lateral hip (C), and false-profile hip (D) views. Figure 22-2. Modified Dunn view radiograph demonstrates a small cam lesion of the right femoral neck (arrow). Dashed and solid lines indicate anterior and posterior walls, respectively, creating a crossover sign consistent with acetabular retroversion.

——Measurements that can evaluate the severity of cam deformity or abnormal acetabular coverage include the α angle, head-neck offset ratio, anterior or lateral center-edge angles, and acetabular index (Figures 22-4–22-6).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 22-3. Pistol grip deformity. Reprinted from Tosun O, Solmaz D, Gercik O, et al. FRI0462 The pistol-grip deformity is more frequent in patients with axial spondyloarthritis. Ann Rheum Dis. 2017;76(Suppl 2):661–662.

Figure 22-4. Anteroposterior pelvis radiograph demonstrates measurement of the acetabular index. The first line drawn (1) connects the radiographic teardrop of the hip acetabulum. A line parallel to this (2) is drawn at the inferior aspect of the sourcil (weight-bearing acetabulum). A third line (3) is drawn connecting line 2 and the lateral aspect of the sourcil. The angle between lines 2 and 3 is the acetabular index, which typically measures between 0 and 10 degrees.

Figure 22-5. Anteroposterior pelvis radiograph demonstrates measurement of the lateral center-edge angle (CEA). The first line (1) is drawn through the center of the femoral head, perpendicular to the floor. A second line (2) is drawn from the center of the femoral head to the lateral weight-bearing zone of the acetabulum. The lateral CEA is the angle formed between these lines and should measure greater than 25 degrees.



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Figure 22-6. Frog leg lateral radiograph demonstrates the measurement of the α angle. First, a line (1) is drawn from the center of the femoral head (circle) and through the center of the femoral neck. A second line (2) is drawn from the center of the femoral head to the point on the anterolateral head-neck junction where the femoral head loses its sphericity. The α angle lies between these lines. Values greater than 50 degrees are suggestive of a head-neck offset deformity. Figure 22-7. Coronal view magnetic resonance arthrogram demonstrates labral pathology (dashed arrow) as well as a cam lesion of the femoral neck (solid arrow).

•• Magnetic resonance imaging ——A magnetic resonance arthrogram of the hip can aid in assessment of labral or chondral injury (Figure 22-7).

——Should be considered in patients in whom nonoperative treatment has been

unsuccessful as well as those with painful mechanical symptoms to evaluate for damage to articular cartilage or labrum

Treatment

•• Nonoperative treatment is initially indicated for patients with no mechanical symptoms and those who are minimally symptomatic. ——Modification of activities or period of rest from aggravating movements ——Nonsteroidal anti-inflammatory medications

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——Physical therapy ——Intra-articular corticosteroid injection

•• A nonoperative approach should be the first-line treatment for most young, active patients with symptomatic FAI syndrome.

•• Surgical management may be indicated in a small number of patients with mechanical symptoms and those for whom conservative therapy has been unsuccessful.

•• Surgical options include hip arthroscopy, surgical hip dislocation and osteoplasty, periacetabular osteotomy, or a combination of these procedures.

•• Rarely, FAI can lead to severe degenerative changes, which may require total hip arthroplasty.

Expected Outcomes/Prognosis

•• Patients with minimal symptoms will typically improve with nonoperative measures, but this may take several months.

•• Up to 82% of patients with FAI will improve with conservative treatment

consisting of optimized physical therapy and return to their prior sport or a new sport. •• Adolescent athletes who undergo hip arthroscopy for FAI have a high rate of success and return to sport. •• Patients with untreated symptomatic FAI may undergo further labral or chondral damage. •• Continued abnormal contact between the femoral head and acetabulum may result in further joint deterioration and eventually, osteoarthritis. The goal of surgical treatment is to improve symptoms. There is not good evidence that hip arthroscopy decreases the risk for development of hip osteoarthritis.

Prevention

•• FAI is a dynamic process with many influences, including development, genetics,

and biomechanics. Without a clear cause for the development of FAI, it is unknown how to prevent this problem. •• Maintaining hip muscle strength and improving neuromuscular control may limit symptoms.

When to Refer

•• Patients who do not improve with nonoperative treatment measures and those

with mechanical symptoms in the hip, such as painful clicking or popping, should be referred to an orthopaedic surgeon who specializes in hip disorders.

Bibliography—Part 8 Aronsson DD, Loder RT, Breur GJ, Weinstein SL. Slipped capital femoral epiphysis: current concepts. J Am Acad Orthop Surg. 2006;14(12):666–679 Barlow TG. Early diagnosis and treatment of congenital dislocation of the hip. J Bone Joint Surg Br. 1962;44-B(2):292–301



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Bogunovic L, Nho S. Femoroacetabular impingement. In: Miller MD, ed. Orthopaedic Knowledge Update: Sports Medicine. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016 Carney BT, Weinstein SL, Noble J. Long-term follow-up of slipped capital femoral epiphysis. J Bone Joint Surg Am. 1991;73(5):667–674 Castillo C, Mendez M. Slipped capital femoral epiphysis: a review for pediatricians. Pediatr Ann. 2018;47(9):e377–e380 Eldridge JC. Slipped capital femoral epiphysis. In: Sponseller PD, ed. Orthopaedic Knowledge Update: Pediatrics. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2002:143–152 Frank JS, Gambacorta PL, Eisner EA. Hip pathology in the adolescent athlete. J Am Acad Orthop Surg. 2013;21(11):665–674 Harding MG, Harcke HT, Bowen JR, Guille JT, Glutting J. Management of dislocated hips with Pavlik harness treatment and ultrasound monitoring. J Pediatr Orthop. 1997;17(2):189–198 Herring JA, Kim HT, Browne R. Legg-Calvé-Perthes disease. Part I: classification of radiographs with use of the modified lateral pillar and Stulberg classifications. J Bone Joint Surg Am. 2004;86(10):2103–2120 Herring JA, Kim HT, Browne R. Legg-Calvé-Perthes disease. Part II: prospective multicenter study of the effect of treatment on outcome. J Bone Joint Surg Am. 2004;86(10):2121–2134 Houghton KM. Review for the generalist: evaluation of pediatric hip pain. Pediatr Rheumatol Online J. 2009;7(1):10 Jones GT, Schoenecker PL, Dias LS. Developmental hip dysplasia potentiated by inappropriate use of the Pavlik harness. J Pediatr Orthop. 1992;12(6):722–726 Kim HK. Legg-Calvé-Perthes disease. J Am Acad Orthop Surg. 2010;18(11):676–686 Kim HKW, Herring JA. Legg-Calve-Perthes disease. In: Herring JA, ed. Tachdjian’s Pediatric Orthopaedics. 5th ed. Philadelphia, PA: Elsevier; 2014:580–629 Kitadai HK, Milani C, Nery CA, Filho JL. Wiberg’s center-edge angle in patients with slipped capital femoral epiphysis. J Pediatr Orthop. 1999;19(1):97–105 Kovacevic D, Mariscalco M, Goodwin RC. Injuries about the hip in the adolescent athlete. Sports Med Arthrosc Rev. 2011;19(1):64–74 Leunig M, Werlen S, Ungersböck A, Ito K, Ganz R. Evaluation of the acetabular labrum by MR arthrography. J Bone Joint Surg Br. 1997;79(2):230–234 Lindstrom JR, Ponseti IV, Wenger DR. Acetabular development after reduction in congenital dislocation of the hip. J Bone Joint Surg Am. 1979;61(1):112–118 Litrenta J, Mu BH, Ortiz-Declet V, et al. Hip arthroscopy successfully treats femoroacetabular impingement in adolescent athletes. J Pediatr Orthop. 2020;40(3):e156–e160 Loder RT. The demographics of slipped capital femoral epiphysis. An international multicenter study. Clin Orthop Relat Res. 1996;322:8–27 Loder RT, Aronsson DD, Dobbs MB, Weinstein SL. Slipped capital femoral epiphysis. Instr Course Lect. 2001;50:555–570 Loder RT, Richards BS, Shapiro PS, Reznick LR, Aronson DD. Acute slipped capital femoral epiphysis: the importance of physeal stability. J Bone Joint Surg Am. 1993;75(8):1134–1140 Loder RT, Starnes T, Dikos G, Aronsson DD. Demographic predictors of severity of stable slipped capital femoral epiphyses. J Bone Joint Surg Am. 2006;88(1):97–105 Luhmann SJ, Schoenecker PL, Anderson AM, Bassett GS. The prognostic importance of the ossific nucleus in the treatment of congenital dysplasia of the hip. J Bone Joint Surg Am. 1998;80(12):1719–1727

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Parvizi J, Leunig M, Ganz R. Femoroacetabular impingement. J Am Acad Orthop Surg. 2007;15(9):561–570 Pennock AT, Bomar JD, Johnson KP, Randich K, Upasani VV. Nonoperative management of femoroacetabular impingement: a prospective study. Am J Sports Med. 2018;46(14):3415–3422 Ponseti IV. Growth and development of the acetabulum in the normal child. Anatomical, histological, and roentgenographic studies. J Bone Joint Surg Am. 1978;60(5):575–585 Ramsey PL, Lasser S, MacEwen GD. Congenital dislocation of the hip. Use of the Pavlik harness in the child during the first six months of life. J Bone Joint Surg Am. 1976;58(7):1000–1004 Rhee C, Le Francois T, Byrd JWT, Glazebrook M, Wong I. Radiographic diagnosis of pincer-type femoroacetabular impingement: a systematic review. Orthop J Sports Med. 2017;5(5):2325967117708307 Sankar WN, Nevitt M, Parvizi J, Felson DT, Agricola R, Leunig M. Femoroacetabular impingement: defining the condition and its role in the pathophysiology of osteoarthritis. J Am Acad Orthop Surg. 2013;21(suppl 1):S7–S15 Schmitz MR, Blumberg TJ, Nelson SE, Sees JP, Sankar WN. What’s new in pediatric hip? J Pediatr Orthop. 2018;38(6):e300–e304 Schoenecker PL, Anderson DJ, Capelli AM. The acetabular response to proximal femoral varus rotational osteotomy. Results after failure of post-reduction abduction splinting in patients who had congenital dislocation of the hip. J Bone Joint Surg Am. 1995;77(7):990–997 Segal LS, Boal DK, Borthwick L, Clark MW, Localio AR, Schwentker EP. Avascular necrosis after treatment of DDH: the protective influence of the ossific nucleus. J Pediatr Orthop. 1999;19(2):177–184 Sucato DJ. Approach to the hip for SCFE: the North American perspective. J Pediatr Orthop. 2018;38(suppl 1):S5–S12 Sucato DJ, Johnston CE II, Birch JG, Herring JA, Mack P. Outcome of ultrasonographic hip abnormalities in clinically stable hips. J Pediatr Orthop. 1999;19(6):754–759 Wedge JH, Wasylenko MJ. The natural history of congenital dislocation of the hip: a critical review. Clin Orthop Relat Res. 1978;(137):154–162 Weinstein SL. Natural history of congenital hip dislocation (CDH) and hip dysplasia. Clin Orthop Relat Res. 1987;(225):62–76 Winston P, Awan R, Cassidy JD, Bleakney RK. Clinical examination and ultrasound of self-reported snapping hip syndrome in elite ballet dancers. Am J Sports Med. 2007;35(1):118–126 Wright J, Ramachandran M. Slipped capital femoral epiphysis: the European perspective. J Pediatr Orthop. 2018;38(suppl 1):S1–S4 Yen YM, Lewis CL, Kim YJ. Understanding and treating the snapping hip. Sports Med Arthrosc Rev. 2015;23(4):194–199 Zhou J, Melugin HP, Hale RF, et al. The prevalence of radiographic findings of structural hip deformities for femoroacetabular impingement in patients with hip pain. Am J Sports Med. 2020;48(3):647–653

Part 9: Rotational and Angular Deformities TOPICS COVERED 23. Rotational and Angular Deformities: General Treatment Guidelines.............................................................. 24. In-toeing................................................................................ Internal Femoral Torsion Internal Tibial Torsion 25. Out-toeing............................................................................. 26. Angular Variations: Genu Varum (Bowleg) and Genu Valgum (Knock-Knee).........................................................................



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CHAPTER 23

Rotational and Angular Deformities: General Treatment Guidelines •• Rotational and angular lower extremity variations in children are common

presenting concerns reported to pediatricians and primary care physicians. Most have a benign natural history, most require education and reassurance only, and most require no treatment interventions. •• In-toeing and out-toeing are deformity types related to the position of the foot. Bowleg (genu varum) and knock-knee (genu valgum) are deformity types of the knee in relation to the midline axis of the body. •• The natural history of lower limb rotation and alignment develops in a predictable fashion during the first decade after birth; normal adult alignment is not present at birth. •• Wide variations in rotation and angulation are also normal. ——Rotational variation within normal limits for age is termed version. ——Rotation that exceeds 2 standard deviations from the mean is termed torsion. •• Knowledge of normal development of limb alignment during the first 10 years of growth is the cornerstone of diagnosis in these patients. ——The femur and tibia rotate externally with growth, so internal femoral torsion and internal tibial torsion decrease with age, while external femoral torsion and external tibial torsion increase with age. •• Parents, grandparents, and other family members are often concerned about the immediate cosmetic and long-term potential functional and degenerative implications of these conditions. Most often, the treatment intervention is observation, education, and reassurance because these conditions are a phase of normal development. •• Family members may attribute a child’s clumsiness, frequent falls, and disinterest in sports to an observed rotational or angular leg alignment. This is not the case. Gait maturity does not occur until 3 to 5 years of age. •• Parental reaction may be influenced by personal experience. For example, it is common to discover that a family member has received treatment, including braces, for a similar disorder in the past.

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Rotational Variations

•• The use of braces and other devices has waned over the past 40 years because

research studies have demonstrated that the natural history of most of these conditions is one of spontaneous resolution; braces are ineffective. •• The key components of treatment are appropriate education and reassurance to families. •• Persistent alignment abnormalities associated with significant functional or cosmetic concern may be corrected surgically in older children. However, this is rarely required.

CHAPTER 24

In-toeing Introduction/Etiology/Epidemiology

•• In-toeing is a general term for deviation of the feet toward the midline. In lay terminology, this is often referred to as “pigeon-toed gait.”

•• In-toeing may be unilateral or bilateral. Asymmetry is more noticeable. •• In-toeing stems from one of 3 anatomic variants: metatarsus adductus, internal

tibial torsion, or internal femoral torsion. ——Metatarsus adductus presents in the first year after birth. ——Internal tibial torsion presents in toddlers. ——Internal femoral torsion presents in children older than 3 years. •• More than one rotational variant may coexist, accentuating or compensating for the index deformity. For example, a patient with coexistent internal femoral torsion and external tibial torsion may exhibit a neutral gait pattern.

Evaluation HISTORY

•• Young children are generally asymptomatic and present to the physician’s office because of an adult’s concern.

•• Older children are usually aware of the condition and may be self-conscious or describe functional problems such as tripping.

PHYSICAL EXAMINATION

•• Evaluate the foot progression angle (FPA) during gait. ——FPA (the step imprint on the ground) is the angle produced by the long axis of the foot and the line of forward travel of the body.

——When the foot (imprint on the ground) points inward, toward the midline, the FPA is defined as negative.

——When the foot points outward, away from the midline, FPA is positive. ——Normal FPA ranges from −5 to +20 degrees.

•• Determine the rotational profile of the femur, tibia, and foot in the prone position. ——Femur: Measure hip internal and external rotation in prone position with the knees in flexion.

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——Tibia: Measure the thigh-foot angle (TFA) in the prone position. With the hips

extended and the knees flexed to 90 degrees, measure the angle between the long axis of the foot and the long axis of the thigh. „„In infants, normal TFA ranges from −17 to +5 degrees. „„In children older than 10 years and in adults, normal TFA ranges from −5 to +30 degrees with a mean of 10 to 15 degrees. ——Foot: The lateral border of the foot should be straight. •• Very young children (2 years and younger) may be unwilling to lie prone and therefore may be examined sitting on the parent’s lap to lessen anxiety and encourage cooperation. In this position, hip range of motion is examined supine and tibial rotation can be quantified by comparing the position of the second toe to that of the tibial tubercle.

Differential Diagnosis

•• Clarify the exact presenting issue because other musculoskeletal conditions

(eg, pes planus, flatfoot) may be misidentified by the layperson as in-toeing.

•• Differentiate rotational profile variants from underlying neurologic disorders

(eg, cerebral palsy, hemiplegia) by looking for clues such as preterm birth, delayed motor development, or a regression of motor skills. •• Internal femoral torsion is sometimes referred to as “excessive femoral anteversion.”

Internal Femoral Torsion INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Femoral torsion is the angular difference between the axes of the femoral neck and the transcondylar axis of the knee.

•• It has been measured to be as high as 40 degrees in normal infants, decreasing to between 10 and 15 degrees by adulthood.

•• Internal femoral torsion is commonly noted between 3 and 6 years of age and is usually symmetrical.

•• The ratio of affected girls to boys is 2:1. SIGNS AND SYMPTOMS

•• There is often a family history of similar limb variation. •• Children with internal femoral torsion often avoid sitting cross-legged, preferring

to sit in the “W” position on their knees with their hips internally rotated and the lower limbs directed externally. •• Parents or patients may report clumsiness and frequent tripping. •• Physical examination will show negative FPA and hip internal rotation greater than 70 degrees. ——Mild: hip internal rotation 70 to 80 degrees; external rotation 10 to 20 degrees ——Moderate: hip internal rotation 80 to 90 degrees; external rotation 0 to 10 degrees ——Severe: hip internal rotation greater than 90 degrees; external rotation less than 0 degrees



Chapter 24: In-toeing

225

•• When running, the legs rotate laterally at the knee during swing phase—described as an eggbeater pattern.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined based on history and physical examination findings (Figure 24-1).

•• While femoral rotation can be measured using radiologic techniques (methods

using biplanar radiography, ultrasonography, computed tomography, and magnetic resonance imaging have been described), it is more commonly estimated by quantifying the internal and external rotation of a patient’s hips in the prone position. •• Imaging studies are not necessary for diagnosis and are only warranted as part of preoperative planning. TREATMENT

•• The initial intervention is education and reassurance for the child and family

because the natural history of internal femoral torsion is one of improvement and often resolution in more than 90% of children. •• Nonoperative treatments, including shoe wedges, twister cables, night splints, and metal and leather derotation (“Forrest Gump”) braces, are ineffective in altering the natural history of femoral torsion. •• There is no evidence that avoidance of W-sitting has a positive effect, although avoiding this seated position is common and is generally advisable. Figure 24-1. Measurement of hip internal (A) and external (B) rotation with patient prone, knees together. Normal ranges vary by age and sex. Excessive internal rotation may signal joint laxity, femoral anteversion, or spasticity. Femoral anteversion is likely present when internal rotation is significantly greater than external rotation.

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•• In rare instances, surgical treatment is considered and involves femoral derotational osteotomy. Surgery is indicated only for severe deformity, such as more than 80 degrees of internal hip rotation and functional problems in an older child.

EXPECTED OUTCOMES/PROGNOSIS

•• Internal femoral torsion decreases by 1.5 degrees per year during normal skeletal growth.

•• Most children have achieved a normal adult femoral rotational profile by 8 to 10 years of age.

•• Researchers have demonstrated that the physical performance of adolescents and adults with internal femoral torsion is not impaired.

•• Internal femoral torsion has been suggested by some to contribute to the

development of hip osteoarthritis; however, comparison of arthritic and nonarthritic control hips has revealed no difference in internal femoral torsion between the 2 groups. Therefore, prophylactic surgical correction of the rotational alignment is not indicated to prevent arthritis. •• The miserable malalignment syndrome has been described, in which internal femoral torsion combined with external tibial torsion creates patellofemoral dysfunction and knee pain. Isolated internal femoral torsion, however, does not adversely affect the knee joint. WHEN TO REFER

•• If a child has persistent, symptomatic internal femoral torsion after 8 years of age, refer to an orthopaedic specialist.

Internal Tibial Torsion INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Internal tibial torsion is common in infants and toddlers. •• Caused by intrauterine factors, it is rarely found in preterm infants. •• It is bilateral in two-thirds of cases. •• Unlike internal femoral torsion, internal tibial torsion has no sex-related difference. SIGNS AND SYMPTOMS

•• In-toeing due to internal tibial torsion is noted in the second year after birth.

At this early stage of gross motor development, frequent falls are common, and parents may inaccurately attribute falls to the internal tibial torsion. •• In-toeing may be more pronounced when the child is tired, running, or wearing bulky footwear because the necessary compensatory hip external rotation may be more challenging for the child. This may cause parents to think that the in-toeing waxes and wanes. DIAGNOSTIC CONSIDERATIONS

•• Physical examination reveals a negative TFA and negative FPA, with the patella pointing anteriorly and the foot pointing inward or medially (Figure 24-2).



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227

Figure 24-2. Thigh-foot angle (TFA) is assessed by having the patient lie prone with the knees flexed to 90 degrees and the feet in a relaxed position. TFA is formed by the axis of the foot and the axis of the thigh. Note any asymmetry.

•• Evaluate for foot deformity or genu varum because internal tibial torsion may

be associated with other lower limb abnormalities, such as clubfoot or tibia vara (Blount disease).

TREATMENT

•• Education and reassurance are indicated because spontaneous improvement and resolution are expected in almost all cases of internal tibial torsion.

•• Night splints or braces do not alter the natural history of resolution of internal tibial torsion and, with rare exceptions, are not indicated.

•• In rare cases of unresolved tibial torsion in patients who are at least 8 years old

with a TFA of at least −10 degrees, surgery including a distal tibial derotational osteotomy may be considered.

EXPECTED OUTCOMES/PROGNOSIS

•• Spontaneous improvement and resolution are expected in almost all cases of internal tibial torsion. Improvement is generally complete by 8 years of age.

•• Persistent internal tibial torsion may be a cosmetic concern but rarely causes functional problems.

•• Some authors have reported that internal tibial torsion improves performance in certain athletic activities, such as running.

WHEN TO REFER

•• Refer internal tibial torsion to an orthopaedic specialist ——When associated with foot deformity or significant genu varum ——When tibial torsion fails to spontaneously correct by age 8 years

Metatarsus Adductus

•• See Chapter 53, Metatarsus Adductus and Metatarsus Varus, for a full discussion of this condition.

CHAPTER 25

Out-toeing Introduction/Etiology/Epidemiology

•• Out-toeing is defined as a foot progression angle (FPA) (ie, foot imprint on the

ground) outward greater than the upper limit of normal (20 degrees in infancy and 15 degrees at skeletal maturity). •• Out-toeing may stem from the hip, femur, or tibia. •• Pes planus and foot pronation may also contribute to out-toeing.

Diagnosis and Treatment

•• External rotation contractures of the hip in infancy ——A common finding in normal infants caused by fetal packaging in utero that

results in an externally rotated posture of the lower limb. It is often first noted at the onset of walking. ——The feet turn out when the infant is placed in an upright position; this is sometimes referred to as the Charlie Chaplin stance. ——Observation and reassurance are indicated because these contractures spontaneously resolve during the first 2 years after birth. •• External femoral torsion later than infancy ——A developmental variation in teens and preteens may be associated with slipped capital femoral epiphysis (SCFE). ——SCFE is associated with obesity and is postulated to be initiated by excessive femoral remodeling secondary to mechanical forces. ——On physical examination, hip internal rotation is less than 25 degrees; hip external rotation is 70 to 90 degrees. ——This condition does not improve with growth. ——It can lead to hip pain and arthritis. ——External femoral torsion is sometimes referred to as femoral retroversion. •• SCFE ——It is important to evaluate the teenager with increased body mass index with a new onset of unilateral or bilateral externally rotated gait for SCFE (see Chapter 20, Slipped Capital Femoral Epiphysis). ——Physical examination usually reveals obligate hip external rotation with hip flexion and pain with passive hip rotation. ——Anteroposterior and frog lateral radiographs of the pelvis must be obtained if SCFE is suspected.

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•• External tibial torsion ——Thigh-foot angle is greater than 30 degrees outward. ——This deformity is less common than internal tibial torsion. ——Excessive external tibial torsion (> 40 degrees outward) may cause disability,

including medial foot pain, patellofemoral pain, patellofemoral instability, and osteochondritis dissecans of the knee. ——A tight iliotibial band or Achilles tendon may contribute to the out-toeing; in such cases, routine stretching of the tight muscles is indicated. ——Tibial osteotomy may be performed for rare cases of severe, symptomatic external tibial torsion that persists beyond 8 to 10 years of age.

When to Refer

•• Any child with symptomatic out-toeing that persists beyond 8 to 10 years of age should be referred to an orthopaedic specialist.

•• A suspected case of SCFE requires immediate referral to an orthopaedic surgeon.

CHAPTER 26

Angular Variations: Genu Varum (Bowleg) and Genu Valgum (Knock-Knee) Introduction/Etiology/Epidemiology

•• Physiologic angulation ——Angular variations at the knee (bowleg [varus] or knock-knee [valgus]) that fall within 2 standard deviations of the mean

——Angular orientation of the lower limbs follows a predictable pattern of normal

development during childhood. 2 years of age, most children demonstrate up to 15 degrees of physiologic genu varum (bowleg). „„By 2 years of age, spontaneous improvement occurs and neutral alignment is the norm. „„Children then proceed to develop exaggerated valgus, which peaks by about 3 to 5 years of age and then corrects toward the normal adult value of 5 to 7 degrees of valgus by age 8 years. „„Physiologic genu varum and valgum are typically symmetrical. •• Idiopathic angulation ——Angular variations at the knee (bowleg or knock-knee) that fall outside 2 standard deviations of the mean (Figure 26-1). ——This variation may be familial. ——Idiopathic genu valgum (knock-knee) is commonly seen in girls with obesity. „„In the supine position with the knees fully extended, the distance between the medial malleoli is greater than 8 cm. •• Pathologic angulation ——Rickets may cause genu varum or valgum (see Chapter 68, Skeletal Dysplasias). „„Pathologic angulation is usually associated with short stature. „„Radiographs show characteristic widening of the physes and help to establish the diagnosis along with serum laboratory values (ie, calcium, phosphorous, alkaline phosphatase, vitamin D, parathyroid hormone). ——Blount disease is a pathologic cause of varus deformity at the knee in juveniles. „„Focal growth disturbance of the medial proximal tibial epiphysis produces tibia vara. „„Before

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30

Figure 26-1. Normal values for the knee angle are shown in degrees and intercondylar in intermalleolar distance. Abbreviation: SD, standard deviation.

N=196

20 15 10 5 0

2 SD

–5 –10

2 SD

–15

Distance (cm) Intramalleolar Intracondylar

Knee angle valgus varus

25

1

2

3

4 5 6 7 Age (years)

8

9

10 11

6 4

2 SD

2

Reproduced from Heath CH, Staheli LT. Normal limits of knee angle in white children—genu varum and genu valgum. J Pediatr Orthop 1993;13:259–262 (https://journals.lww.com/ pedorthopaedics/Abstract/2013/ 06000/Estimation_of_the_ Recovery_of_Physiological_ Genu.16.aspx), with permission from Wolters Kluwer Health and the Pediatric Orthopaedic Society of North America.

0 –2 –4 –6 –8

2 SD

„„This

occurs commonly in children with overweight who walk at an early age and are of African descent. „„It is often associated with significant internal tibial torsion. „„Radiographs demonstrate metaphyseal-diaphyseal angle in the proximal tibia (Drennan angle) greater than 15 degrees; more advanced cases are identified by a growth disturbance of the medial tibial physis. ——Skeletal dysplasias can be associated with genu varum (see Chapter 68, Skeletal Dysplasias). „„Identified by positive family history, short stature, abnormal body proportions, or characteristic radiologic findings ——Post-traumatic genu valgum „„Typically unilateral „„Post-traumatic genu valgum occurs after a seemingly benign nondisplaced upper tibial metaphyseal fracture in young children (Cozen fracture).

Physical Examination

•• Assess lower limb alignment in standing position with particular attention to the angle produced by the intersection of the long axes of the femur and tibia.

Treatment

•• Physiologic genu varum and valgum require no treatment other than education and reassurance.



Chapter 26: Angular Variations: Genu Varum (Bowleg) and Genu Valgum (Knock-Knee) 233

•• For equivocal cases at the upper limit of normal, evaluate the deformity with

a standing photograph taken in the anteroposterior plane and repeat the photograph in 6 months to identify whether there has been improvement or progression. •• Shoe wedges and bracing are not effective. •• In the rare case in which angular malalignment is severe and persists beyond the expected age of correction, surgical treatment may be indicated to correct the angulation and prevent degenerative arthritis of the knee. ——Prior to physeal closure, correction may be achieved by growth modulation with physeal stapling, plating, or hemi-epiphysiodesis. ——After skeletal maturity, osteotomy is required to correct angular deformity.

Expected Outcomes/Prognosis

•• Severe or pathologic deformities can lead to knee arthritis. •• Excessive valgus wears out the lateral knee joint, while excessive varus wears out the medial joint.

When to Refer

•• Varus or valgus angulations that are severe, are pathologic, or persist beyond the expected age of correction should be referred to an orthopaedic specialist.

•• Varus angulation that persists beyond the age of 2 years may be Blount disease and should be referred to an orthopaedic specialist.

Bibliography—Part 9 Berry KM. Evidence-based management of in-toeing in children. Clin Pediatr (Phila). 2018;57(11):1261–1265 Bleck EE. Metatarsus adductus: classification and relationship to outcomes of treatment. J Pediatr Orthop. 1983;3(1):2–9 Bramer JAM, Maas M, Dallinga RJ, te Slaa RL, Vergroesen DA. Increased external tibial torsion and osteochondritis dissecans of the knee. Clin Orthop Relat Res. 2004;422:175–179 Bruce WD, Stevens PM. Surgical correction of miserable malalignment syndrome. J Pediatr Orthop. 2004;24(4):392–396 Eamsobhana P, Rojjananukulpong K, Ariyawatkul T, Chotigavanichaya C, Kaewpornsawan K. Does the parental stretching programs improve metatarsus adductus in newborns? J Orthop Surg (Hong Kong). 2017;25(1):2309499017690320 Fabry G, Cheng LX, Molenaers G. Normal and abnormal torsional development in children. Clin Orthop Relat Res. 1994;(302):22–26 Fabry G, MacEwen GD, Shands AR Jr. Torsion of the femur. A follow-up study in normal and abnormal conditions. J Bone Joint Surg Am. 1973;55(8):1726–1738 Farsetti P, Weinstein SL, Ponseti IV. The long-term functional and radiographic outcomes of untreated and non-operatively treated metatarsus adductus. J Bone Joint Surg Am. 1994;76(2):257–265 Faulks S, Brown K, Birch JG. Spectrum of diagnosis and disposition of patients referred to a pediatric orthopaedic center for a diagnosis of intoeing. J Pediatr Orthop. 2017;37(7):e432–e435

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Fuchs R, Staheli LT. Sprinting and intoeing. J Pediatr Orthop. 1996;16(4):489–491 Heinrich SD, Sharps CH. Lower extremity torsional deformities in children: a prospective comparison of two treatment modalities. Orthopedics. 1991;14(6):655–659 Hubbard DD, Staheli LT, Chew DE, Mosca VS. Medial femoral torsion and osteoarthritis. J Pediatr Orthop. 1988;8(5):540–542 Jacquemier M, Glard Y, Pomero V, Viehweger E, Jouve JL, Bollini G. Rotational profile of the lower limb in 1319 healthy children. Gait Posture. 2008;28(2):187–193 Kling TF Jr, Hensinger RN. Angular and torsional deformities of the lower limbs in children. Clin Orthop Relat Res. 1983;(176):136–147 Krengel WF III, Staheli LT. Tibial rotational osteotomy for idiopathic torsion. A comparison of the proximal and distal osteotomy levels. Clin Orthop Relat Res. 1992;(283):285–289 Lincoln TL, Suen PW. Common rotational variations in children. J Am Acad Orthop Surg. 2003;11(5):312–320 Pitkow RB. External rotation contracture of the extended hip. A common phenomenon of infancy obscuring femoral neck anteversion and the most frequent cause of out-toeing gait in children. Clin Orthop Relat Res. 1975;110:139–145 Salenius P, Vankka E. The development of the tibiofemoral angle in children. J Bone Joint Surg Am. 1975;57(2):259–261 Savva N, Ramesh R, Richards RH. Supramalleolar osteotomy for unilateral tibial torsion. J Pediatr Orthop B. 2006;15(3):190–193 Schulz JF, Molho DA, Sylvia SM, et al. Parental understanding of intoeing gait - A preliminary study. Foot. 2019;41:39–43 Schwarze DJ, Denton JR. Normal values of neonatal lower limbs: an evaluation of 1,000 neonates. J Pediatr Orthop. 1993;13(6):758–760 Shih YC, Chau MM, Arendt EA, Novacheck TF. Measuring lower extremity rotational alignment: a review of methods and case studies of clinical applications. J Bone Joint Surg Am. 2020;102(4):343–356 Sielatycki JA, Hennrikus WL, Swenson RD, Fanelli MG, Reighard CJ, Hamp JA. In-toeing is often a primary care orthopedic condition. J Pediatr. 2016;177:297–301 Staheli LT. Rotational problems in children. J Bone Joint Surg Am. 1993;75(6):939–949 Staheli LT, Corbett M, Wyss C, King H. Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am. 1985;67(1):39–47 Staheli LT, Lippert F, Denotter P. Femoral anteversion and physical performance in adolescent and adult life. Clin Orthop Relat Res. 1977;129:213–216 Svenningsen S, Apalset K, Terjesen T, Anda S. Osteotomy for femoral anteversion. Complications in 95 children. Acta Orthop Scand. 1989;60(4):401–405 Wedge JH, Munkacsi I, Loback D. Anteversion of the femur and idiopathic osteoarthrosis of the hip. J Bone Joint Surg Am. 1989;71(7):1040–1043

Part 10: Upper Extremity Problems TOPICS COVERED 27. Brachial Plexus Injuries .......................................................... 237 Newborn Brachial Plexus Injury Non-perinatal Brachial Plexus Palsy (Burners and Stingers) 28. Nursemaid Elbow (Radial Head Subluxation) ............................ 249 29. Congenital Upper Limb Differences ......................................... 253 Trigger Thumb Camptodactyly Clinodactyly Constriction Band Syndrome (Amniotic Band Syndrome) Sprengel Deformity Congenital Proximal Radioulnar Synostosis Syndactyly Central Ray Deficiency Symbrachydactyly Polydactyly Hand Radial Dysplasia



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CHAPTER 27

Brachial Plexus Injuries Newborn Brachial Plexus Injury INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The incidence of newborn brachial plexus injury is estimated to be 0.9 per 1,000 total births.

•• Most are traction injuries to the brachial plexus (Table 27-1 and Table 27-2)

caused by downward positioning of the shoulder and lateral flexion or hyperextension of the neck during delivery, resulting in varying degrees of upper extremity muscle weakness, which can lead to progressive glenohumeral joint deformity and dislocation. •• Shoulder dystocia is documented in about 50% of cases. ——Although the incidence of brachial plexus injury decreased from 1997 to 2012, shoulder dystocia remains the most common risk factor. •• Risk factors are listed in Box 27-1. •• Brachial plexus injuries most commonly occur in newborns with macrosomia but without macrocephaly. ——This combination allows the head to be delivered easily but traps the shoulders against the pubic bone. •• Cesarean is the preferred delivery method for babies with macrosomia, but it does not preclude the possibility of brachial plexus injury. •• Comorbidities ——Diaphragmatic paralysis is documented in 1% to 5% of cases. C3, C4, and C5 nerve roots contribute to the phrenic nerve, which innervates the ipsilateral hemidiaphragm. Suspect this in any newborn with a brachial plexus injury and respiratory distress, including mild tachypnea. ——Horner syndrome is documented in 5% to 30% of cases. Disruption of the sympathetic nerves that arise from the nerve roots in the lower cervical and upper thoracic spinal cord results in miosis, ptosis, enophthalmos, and anhidrosis of the ipsilateral face. •• Newborn brachial plexus injury classification is based on anatomic level of injury. ——C5-C6 injuries „„Erb palsy (Erb-Duchenne paralysis) „„90% of neonatal brachial plexus injuries „„Injury of the upper trunk avulsion is rare. ——C5-C7 injuries „„Extended Erb palsy 237

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Table 27-1. Brachial Plexus Injuries and Associated Deficits Injury

Sensory Deficit

Motor Deficit

C5 root

Lateral shoulder

Shoulder external rotation and abduction

C6 root

Cubital fossa

Elbow flexion

Tip of thumb

Extensor carpi radialis longus

Thumb, index, and middle fingers

Flexor carpi radialis

Dorsal radial hand

Brachioradialis

C7 root

Pronator teres C8 root

Ring and little fingers

Wrist and finger flexion

Dorsal ulnar hand T1 root

None or minimal

Intrinsic muscles of the hand

Upper trunk

Lateral shoulder

Shoulder external rotation and abduction, elbow flexion

Thumb, index, and middle fingers

Pronator teres Flexor carpi radialis Middle trunk

Thumb, index, and middle fingers Radial forearm

Shoulder external rotation and abduction, elbow extension

Radial dorsal hand

Pronator teres Flexor carpi radialis

Lower trunk

Ring and little fingers Medial arm and forearm

Most of the wrist and finger flexors Median and ulnar intrinsics

Posterior cord

Lateral shoulder

Shoulder abduction

Lateral cord

Thumb, index, and middle fingers

Pronator teres

Cubital fossa

Flexor carpi radialis

Radial forearm

Elbow flexion

Ring and little fingers

Most of the wrist and finger flexors

Medial arm and forearm

Median and ulnar intrinsics

Medial cord

Table 27-2. Brachial Plexus Terminal Nerve Injuries and Associated Deficits Injured Nerve

Sensory Deficit

Motor Deficit

Suprascapular

None or minimal

Supraspinatus Infraspinatus

Long thoracic

None or minimal

Serratus anterior

Axillary (ie, circumflex)

Shoulder joint

Deltoid

Distal lateral shoulder

Teres minor

Radial forearm

Biceps brachii

Musculocutaneous

Brachioradialis Coracobrachialis



Chapter 27: Brachial Plexus Injuries

239

Table 27-2. Brachial Plexus Terminal Nerve Injuries and Associated Deficits, continued Injured Nerve

Sensory Deficit

Motor Deficit

Radial

Most of the dorsal hand

Triceps brachii Brachioradialis Extensor carpi radialis longus and brevis Supinator Extrinsic extensor muscles of wrist and fingers

Median

Palmar aspect of the first 3½ digits and dorsal aspect from fingertip to distal interphalangeal joint

Abductor pollicis brevis Flexor pollicis brevis Opponens pollicis Flexor digitorum profundus (index and middle fingers) First and second lumbricals

Ulnar

Fifth digit and ulnar half of fourth digit

Flexor carpi ulnaris Flexor digitorum profundus (ring and little fingers) Third and fourth lumbricals Opponens digiti minimi Flexor digiti minimi Abductor digiti minimi interossei Adductor pollicis

Box 27-1. Risk Factors for Newborn Brachial Plexus Injury Maternal • Previous child with newborn brachial plexus injury • Fibroids • Bicornate uterus • Diabetes • Primiparity • Advanced maternal age • Grand multiparity Fetal • Macrosomia • Transverse lie • Low tone • Neonatal depression Parturitional • Abnormal presentation • Dysfunctional labor • Prolonged second stage of labor • Assisted delivery (eg, vacuum, forceps)

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

——C8-T1 injuries „„Klumpke

paralysis 1% of newborn brachial plexus injuries „„Injury to C8 and T1 roots; avulsion is more common ——C5-T1 injuries „„Total plexus injury (flail extremity) „„8% to 23% of newborn brachial plexus injuries ——Diaphragmatic paralysis and Horner syndrome are more frequent with a total plexus injury than with Klumpke and Erb palsies. „„About

SIGNS AND SYMPTOMS

•• C5-C6 injuries (Erb palsy [Erb-Duchenne palsy]) ——Weakness in shoulder abduction and external rotation, elbow flexion, forearm supination, wrist extension, and finger extension

——Affected neonates hold the arm in the “waiter’s tip position” with the shoulder

adducted and internally rotated, elbow extended, forearm pronated, and wrist and fingers flexed (Figure 27-1). ——Biceps reflex is absent. ——Moro response and tonic neck reflex are asymmetric. ——Palmar grasp reflex is intact. ——It is unclear if there is significant sensory deficit because the sensory tracts seem to have greater plasticity than motor neurons. •• C8-T1 injuries (Klumpke paralysis) ——Weakness of the long wrist flexors and the intrinsic muscles of the hand leading to “claw-hand” position. Figure 27-1. Typical posture (“waiter’s tip position”) of child with C5-C6 newborn brachial plexus injury (Erb palsy). From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1164.



Chapter 27: Brachial Plexus Injuries

241

——Biceps reflex is intact. ——Palmar grasp reflex is absent.

•• C5-T1 injuries (total plexus injury [flail extremity]) ——Affected neonates have no use of the affected arm, wrist, and hand. ——All reflexes involving the affected upper extremity are absent. DIFFERENTIAL DIAGNOSIS

•• Distinguish from pseudoparalysis that is caused by pain from a clavicle or

humerus fracture, shoulder dislocation, septic arthritis, or osteomyelitis. If the newborn seems to be in pain (ie, grimacing) with passive arm motion, has a visible clavicle deformity, or has systemic signs, then radiography, magnetic resonance imaging (MRI), and laboratory studies help differentiate. However, it is important to note that it is possible for newborn brachial plexus injury to coexist with any of these conditions. •• Bilateral symptoms, lower extremity symptoms, or urinary retention should prompt concern for a spinal cord injury. •• Nontraumatic causes of neonatal brachial plexopathy (very rare) include ——Familial congenital brachial plexus palsy ——Congenital varicella syndrome ——Humeral or vertebral body osteomyelitis (typically group B streptococcus) ——Kaiser Wilhelm syndrome (controversial; proposed to be caused by placental insufficiency). ——Exostosis of the first rib (easily seen on conventional radiographs) ——Tumors „„Commonly neurofibroma, myofibroma, and rhabdoid tumors „„Can be caused by compression, infiltration, or both ——Hemangiomas (caused by either direct compression of the plexus or secondary vascular insufficiency) DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is determined clinically. •• Radiographs of the clavicle and humerus should be obtained because 10% of

brachial plexus injuries are associated with clavicle fracture, and another 10% are associated with humerus fracture. •• Electromyography and somatosensory evoked potentials (SSEPs) can potentially define the degree and location of injury, but the results are often confusing because of the plasticity of the newborn central nervous system. •• MRI is often the preferred imaging modality given its superior soft tissue resolution, multiplanar imaging, and utility in determining pre-ganglionic versus post-ganglionic injury. It can identify pseudomeningoceles, which can be associated with nerve root avulsion. •• MRI with arthrography is used to evaluate for glenohumeral deformity. •• There remains ongoing discussion, but no consensus, regarding the utility of ultrasonography in the diagnosis and preoperative evaluation of brachial plexus injury; MRI remains superior.

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TREATMENT

•• Physical therapy (PT) or occupational therapy (OT) should begin 7 to 10 days

after birth. ——Goals of PT/OT „„Prevent joint contractures that are common, even with complete neurologic recovery. „„Strengthen recovering muscles. „„Help the neonate achieve developmental milestones. ——Most parents can be taught a simple home program of shoulder, elbow, and wrist passive range of motion exercises. ——Formal, supervised PT/OT is advised for neonates who do not rapidly recover in the first month after birth or in whom contracture begins to develop. •• A SupER (Supination and External Rotation) splint (Figure 27-2) may be used to help maintain the “thumb’s up” position. •• If there is no recovery by 3 to 6 months of age, microsurgery to repair or reconstruct the nerves is an option. ——Early referral is important, but controversy remains as to the best timing for surgery. ——Grading scales are available to evaluate changes with sequential examinations while determining optimal time for surgical repair. ——Even with perfect reinnervation of the affected muscles (ie, achievement of full and symmetrical strength) after microsurgery, secondary operations, including soft tissue releases, tendon transfers, and osteotomies, are commonly required to achieve an acceptable functional outcome. ——Complications of microsurgery are rare; the major complication is failure to achieve the desired outcome. Figure 27-2. SupER (Supination and External Rotation) splint. Courtesy of Kristina Stein, OTR/L.



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EXPECTED OUTCOMES/PROGNOSIS

•• Spontaneous recovery rates are as high as 90% for injuries involving only C5 and C6.

•• The prognosis is worse for lower plexus injuries. Only 40% of newborns with Klumpke paralysis demonstrate recovery at 1 year of age.

•• Successful recoveries begin early. Newborns who attain complete functional

recovery begin to recover some function in all muscle groups by 1 to 2 months of age, and 93% reach complete function in all muscle groups by 4 months of age. •• Predictors of poor long-term outcome with permanent functional deficits include Horner syndrome, total plexus involvement, and failure to recover function by 3 to 6 months of age. •• More than 90% of neonates who undergo microsurgery to reconstruct the nerves will demonstrate motor improvement within 9 months after surgery; however, complete recovery is rare before 3 years of age. •• For those who are left with some permanent weakness, orthopaedic procedures such as tendon transfers and osteotomies may improve function. WHEN TO REFER

•• Refer to a pediatric neurosurgeon or orthopaedic surgeon with expertise in

brachial plexus injuries for cases involving ——No spontaneous recovery by 2 to 3 months of age (some surgeons may prefer earlier referral—know your local surgeon’s preference). ——Total plexopathy (flail extremity) ——Associated Horner syndrome or phrenic nerve palsy ——Unacceptable progress to the parent(s) or treating physician at any point

PREVENTION

•• Currently, there is no consensus regarding the preferred delivery method of infants with macrosomia.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• Brachial Plexus Injuries Information Page (web page), National Institute of

Neurological Disorders and Stroke. www.ninds.nih.gov/Disorders/All-Disorders/ Brachial-Plexus-Injuries-Information-Page •• Brachial Plexus Injuries in Children (web page), American Academy of Pediatrics. www.healthychildren.org/English/health-issues/injuries-emergencies/Pages/ Brachial-Plexus-Injuries-in-Children.aspx •• Brachial Plexus Palsy (web page), Pediatric Orthopaedic Society of North America. https://orthokids.org/Condition/Neonatal-Brachial-Plexus-Palsy

Non-perinatal Brachial Plexus Palsy (Burners and Stingers) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Non-perinatal brachial plexus palsy, commonly called a burner or stinger, is a common injury in contact sports, especially American tackle football.

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•• 65% of college football players report at least one stinger during their career, with 30% suffering their first stinger in high school.

•• Three mechanisms of injury are described. ——Stretch or traction injury to the plexus commonly occurs during a direct blow

to the head with lateral bending of the neck away from the affected arm, which widens the cervicothoracic angle and places tensile forces on the C5 and C6 nerve roots. ——Pinched cervical nerve roots occur when a blow to the head causes axial loading or lateral bending toward the affected arm, most commonly pinching the C5 and C6 nerve roots. ——Direct blow to the brachial plexus causing a contusion to the nerves „„Often also (and occasionally only) involves cranial nerve XI (the spinal accessory nerve), causing weakness in the trapezius and sternocleidomastoid muscles

SIGNS AND SYMPTOMS

•• Burning pain, paresthesia, and weakness in the upper extremity after a blow to the head or neck

•• Pain usually resolves in 1 to 2 minutes, but weakness may develop hours to days following the injury and persist for several weeks.

•• Weakness typically involves the muscles supplied by C5 and C6 (ie, deltoid, biceps, supraspinatus, and infraspinatus).

•• If the mechanism of injury was a direct blow, there will be tenderness at the site of impact.

DIFFERENTIAL DIAGNOSIS

•• A stinger should never cause bilateral symptoms or leg symptoms; such symptoms suggest a spinal cord injury.

•• A stinger should not cause any cervical spine pain or tenderness or loss of neck motion; these findings suggest a cervical sprain, strain, or fracture.

•• C7 and C8 injuries are rare with a simple stinger; involvement suggests a more complex injury.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is based on history and physical examination. •• Cervical radiographs (anteroposterior, lateral, odontoid, flexion, and extension views)

should be obtained if there is any suspicion of a cervical spine injury or if there is a history of more than one previous stinger (Figure 27-3 and Figure 27-4). ——Examine flexion and extension radiographs for evidence of instability. ——Examine lateral view radiographs for evidence of cervical stenosis, which is associated with stingers. ——The Torg ratio, which is the width of the cervical canal divided by the width of the vertebral body, historically has been used for evaluation of cervical stenosis, although it has fallen out of favor due to advancements in other imaging techniques.



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Figure 27-3. Anteroposterior (A), lateral (B), flexion (C), and extension (D) views of the normal cervical spine. On lateral view (B), note the loss of normal cervical lordosis, which indicates cervical muscle tightness/spasm. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

Figure 27-4. Odontoid view of the cervical spine. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

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•• MRI is widely regarded as the best way to evaluate the brachial plexus as well

as intrinsic spinal cord abnormalities and ongoing compression of the cord and nerve roots. ——The space available for the cord (SAC), which is the sagittal diameter of the spinal canal minus the sagittal diameter of the spinal cord, is thought to be a superior measurement for spinal stenosis, replacing the Torg ratio. •• Electromyograms can identify specific nerves or segments of the plexus that have been injured. •• Sensory nerve action potential and SSEP may also be useful in localizing the lesion. TREATMENT

•• Treatment is supportive. The athlete is advised to rest the upper extremity until symptoms resolve.

•• Strengthening exercises for the neck and upper extremity can be performed once weakness has resolved.

•• Athletes should not return to play until they are asymptomatic and strength is full and symmetrical to the uninjured side.

•• Electromyography findings may remain abnormal, even after all weakness has resolved, and should not be used as an indicator for return to play.

•• Athletes with a history of more than 2 stingers, or with bilateral symptoms, should be evaluated by a sports medicine physician for associated spine pathology before return to contact sports (Box 27-2).

Box 27-2. Return to Play Following a Brachial Plexus Injury No contraindications • Fewer than 3 episodes in a lifetime • No episodes with symptoms lasting longer than 24 hours • Full cervical range of motion • No neurologic deficit shown in detailed examination • No more than 1 episode of quadriparesis or quadriplegia • No cervical radicular symptoms or other disk disease • No cervical spine instability Relative contraindications • Symptoms lasting longer than 24 hours • More than 3 previous episodes • Two episodes of quadriparesis and quadriplegia Absolute contraindications • More than 2 episodes of quadriparesis or quadriplegia • Cervical myelopathy or myelomalacia • Continued neck discomfort • Decreased cervical range of motion • Neurologic deficit



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EXPECTED OUTCOMES/PROGNOSIS

•• Most simple stingers resolve without any sequelae, allowing full return to sports. •• Severe injuries (ie, neurotmesis) are rare. These show no recovery after 3 months and are likely to be permanent. Operative intervention at 3 months may improve function in these cases.

PREVENTION

•• There may be a role for extra padding over the shoulders, higher riding shoulder pads, neck rolls, and further education on proper tackling technique. Even with these interventions, the risk of recurrence is high.

WHEN TO REFER

•• Refer to a pediatric sports medicine physician if ——Symptoms are bilateral ——Symptoms do not resolve within 2 weeks ——There is a history of 2 or more previous stingers RESOURCES FOR PHYSICIANS AND FAMILIES

•• Burners and Stingers (web page), American Academy of Pediatrics. www.

healthychildren.org/English/health-issues/injuries-emergencies/sports-injuries/ Pages/Burners-and-Stingers.aspx •• Burners and Stingers (web page), American Academy of Orthopaedic Surgeons. https://orthoinfo.aaos.org/en/diseases--conditions/burners-and-stingers/ •• Stinger or Burner Injury (web page), Ann & Robert H. Lurie Children’s Hospital of Chicago. https://www.luriechildrens.org/en/specialties-conditions/stinger-orburner-injury/

CHAPTER 28

Nursemaid Elbow (Radial Head Subluxation) Introduction/Etiology/Epidemiology

•• “Annular ligament displacement” is a more appropriate name for this injury than

“radial head subluxation” because the ligament moves into the elbow joint rather than the radial head moving away from the articulation. •• With longitudinal traction to the arm, the annular ligament slides over the radial head and becomes trapped between the capitellum and the radial head, stretching or tearing the ligament. •• In infants, the usual mechanism of injury is by rolling over and the extended arm becoming trapped beneath the body. •• In a child, the classic mechanism of injury is pulling an outstretched arm; it can also occur after a fall on an outstretched arm or as a result of a twisting injury. Injury is more likely when the forearm is pronated. •• Young children are more susceptible to this injury because of maturational anatomic differences compared with adults. In young children the annular ligament has a smaller diameter, making it more susceptible to tearing, and the radial head and neck are more oval in shape and narrower, which allows the annular ligament to easily displace (Figure 28-1). •• Represents 15% to 27% of elbow injuries in children younger than 10 years of age •• Peak incidence is between 1 and 3 years of age but has been reported in children as young as 6 months and as old as 10 years •• Slightly more common among girls, and more likely to affect the left side.

Figure 28-1. Nursemaid elbow is a transient displacement of the annular ligament caused by pulling or yanking of a child’s arm, usually inadvertently, by a parent or caregiver. From McInerny TK, Adam HM, Campbell DE, Kamat DM, Kelleher KJ, eds. American Academy of Pediatrics Textbook of Pediatric Care. Elk Grove Village, IL: American Academy of Pediatrics; 2009:2053.

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Signs and Symptoms

•• The main symptom is refusal to use the upper extremity and/or bend the elbow. •• Pain is reported immediately after the injury and during any attempt to move the elbow.

•• Pain is often difficult to precisely locate. •• The child is often in no distress. •• The arm is held adducted against the body, with the elbow slightly flexed and the forearm pronated (nursemaid position).

•• There is usually no swelling, deformity, or ecchymosis. •• Upper extremity examination is classically normal; however, careful palpation of the anterolateral radial head may elicit mild tenderness.

Differential Diagnosis

•• Differentiating features of other conditions presenting with refusal to use the arm ——Contusions: ecchymosis and swelling ——Upper extremity fractures: significant pain and swelling and possible deformity ——True dislocation of the radial head: significant pain and obvious deformity ——Osteosarcoma and leukemia: unremitting pain at rest ——Vaso-occlusive crisis in sickle cell disease: pain at rest ——Although bilateral nursemaid elbow has been reported, inability to move both arms should raise suspicion of a central nervous system disorder, such as a spinal tumor.

Diagnostic Considerations

•• Diagnosis is clinical. •• Radiography ——Indicated for significant point tenderness, swelling, ecchymosis, or atypical history.

——Radiographic findings are typically normal. ——Radiographs of the uninjured elbow can help assess injury to growth plates. ——Consider wrist views if there is significant referred pain to the distal forearm.

•• Ultrasonography ——May demonstrate a widened space between radial head and capitellum, which

represents the interposed annular ligament, but is not commonly used clinically.

Treatment

•• Most cases can be successfully reduced in the pediatrician’s office without sequelae.

•• Supination/flexion technique ——Use thumb to apply slight pressure over the radial head, then use the other

hand to first supinate, then smoothly flex the elbow fully. Perform as one fluid motion. ——There may be a palpable or audible clunk when the ligament reduces.



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——The greater the tear in the ligament, the more forceful the supination and pronation that is required to achieve successful reduction.

——Success rates range from 69% to 86%.

•• Hyperpronation technique ——Place thumb over the radial head with one hand and then hyperpronate the forearm with the other hand

——May be less painful ——Success rates range from 80% to 98%.

•• Observe the child after reduction until normal use of the arm is witnessed, which

usually occurs within 5 to 15 minutes but may take longer in apprehensive younger children or when reduction takes place more than 4 to 6 hours after injury. •• Immobilization is not necessary after successful reduction. •• Follow-up is unnecessary unless symptoms recur. •• If a clinician reduces a nursemaid elbow successfully but the patient continues to experience severe pain, post-reduction radiographs are warranted. •• Inability to reduce may be caused by complete disruption of the annular ligament or swelling of the ligament from edema, hematoma, or hemorrhage, or by improper technique. ——Failure is more likely if reduction is attempted 12 or more hours after the injury. ——If 2 attempted reductions are unsuccessful, radiographs are obtained to rule out other causes of mechanical blockage, such as a loose body from a fracture.

Expected Outcomes/Prognosis

•• After reduction, there are usually no long-term or permanent sequelae. •• Recurrence rates range from 5% to 39%. •• For a child with 3 or more recurrences, the elbow can be immobilized for 2 to 3 weeks to encourage stabilization of the ligament.

•• Rarely, open reduction and repair or reconstruction of the ligament may be necessary.

•• The incidence of annular ligament displacement decreases after 5 years of age and is exceedingly rare after 10 years of age, likely because of development of a more bulbous radial head and stronger, thicker annular ligament.

Prevention

•• Avoid lifting or pulling the child up by hands or forearms. •• Avoid swinging a child by the wrists or hands. •• Lift toddlers and young children by placing the hands in the axilla and lifting gently to avoid damage to the shoulder, elbow, and wrist.

When to Refer

•• If several attempts at reduction fail to result in normal use of the arm, place a

posterior mold splint (see Chapter 46, Casting and Splinting) with elbow flexed to 90 degrees and forearm in supination, and schedule evaluation by an orthopaedic specialist within 24 hours.

CHAPTER 29

Congenital Upper Limb Differences General Introduction

•• Congenital upper limb differences (CULD) occur in approximately 27 in 10,000 live births.

•• CULD may occur as an isolated finding or as a systemic condition, and

it may be categorized as malformations (anatomic structures did not form normally), deformations (normally formed structures became altered), dysplasias (abnormalities of the growth process), or syndromes (Box 29-1). •• Early recognition of CULD by the pediatrician facilitates appropriate counseling, treatment, and timely referral for the infant. •• Given a concern for neurotoxicity with regard to general anesthesia in infants (based on laboratory studies on animals), surgical treatment is usually not considered until the patient is at least 1 year of age in order to minimize anesthesia-related risks. NORMAL DEVELOPMENT OF THE UPPER LIMB

•• Upper limb develops between weeks 4 and 8 of gestation. Congenital

malformations occur during this period, whereas deformities and dysplasias may occur and manifest later. •• At 4 weeks’ gestation, the upper limb bud grows in a proximal-to-distal pattern controlled by apical ectodermal ridge cells at its distal end. •• Finger separation is complete by 8 weeks’ gestation. •• The hand initiates movement by 9 weeks’ gestation.

Types of CULD TRIGGER THUMB Introduction/Etiology/Epidemiology

•• Relatively common, with incidence of 3 in 1,000 live births •• Likely acquired and not congenital, since trigger thumbs are not usually identified at birth

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Box 29-1. Oberg-Manske-Tonkin Classification of Congenital Hand and Upper Limb Anomalies I. Malformations A. Abnormal axis formation/differentiation—entire upper limb 1. Proximal-distal axis 2. Radioulnar (anteroposterior) axis 3. Dorsal-ventral axis 4. Unspecified axis B. Abnormal axis formation/differentiation—hand plate 1. Proximal-distal axis 2. Radioulnar (anteroposterior) axis 3. Dorsal-ventral axis 4. Unspecified axis II. Deformations III. Dysplasias A. Hypertrophy 1. Whole limb 2. Partial limb B. Tumorous conditions 1. Vascular 2. Neurological 3. Connective tissue 4. Skeletal IV. Syndromes A. Specified B. Others Adapted from Oberg KC, Feenstra JM, Manske PR, Tonkin MA. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am. 2010;35(12):2066–2076. © 2010, with permission from Elsevier.

•• Etiology unknown: Different from adult trigger thumb or finger. •• One in 4 children with trigger thumb has bilateral involvement. Signs and Symptoms

•• Fixed thumb flexion deformity at interphalangeal (IP) joint; may initially “trigger,” then become fixed

•• Palpable nodule known as Notta’s node is almost always present at the level of the metacarpophalangeal joint, at the entrance to the A1 pulley.

•• Usually painless

Differential Diagnosis

•• Congenital thumb-in-palm deformity and thumb hypoplasia Diagnostic Considerations

•• Check for triggering or fixed flexion deformity at thumb IP joint and palpable Notta’s node



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•• Radiographs are usually normal and are not necessary for diagnosis. Treatment and Expected Outcomes/Prognosis

•• Trigger thumb may resolve spontaneously without treatment. Splinting is rarely helpful.

•• A1 pulley release is indicated for children whose locked deformity has not resolved by 2 to 3 years of age. This procedure is simple and curative, and complications are rare.

When to Refer

•• When the condition has not resolved within 3 to 6 months of observation. CAMPTODACTYLY Introduction/Etiology/Epidemiology

•• Nontraumatic, painless flexion contracture of the proximal IP (PIP) joint. •• Small finger is most commonly affected. •• Bilateral in 66% of patients •• Inherited sporadically in most cases, but there is an autosomal dominant type that has incomplete penetrance and variable expressivity. May be associated with syndromes such as arthrogryposis multiplex congenita and distal arthrogryposis.

Signs and Symptoms

•• Often unnoticed and very rarely is associated with any change in function •• Typically painless with no motor or sensory deficits •• Patients present with a flexion deformity at the PIP joint, which can be flexible (passively correctable) or fixed (non-correctable).

•• Distal IP and metacarpophalangeal joints are usually unaffected. Differential Diagnosis

•• Traumatic PIP contracture, clinodactyly, malunion of a fracture Diagnostic Considerations

•• Measure active and passive range of motion. •• Obtain radiographs of the involved digit to evaluate for any bony deformity. Treatment and Expected Outcomes/Prognosis

•• Few patients require surgery. Stretching and splinting of the contracture is usually effective.

•• Nighttime static splinting and daytime dynamic splinting can be used. •• Surgical release is considered when the trigger thumb persists despite the patient diligently splinting.

When to Refer

•• Refer children with a syndrome as well as those for whom conservative treatment is unsuccessful or whose deformity worsens.

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CLINODACTYLY Introduction/Etiology/Epidemiology

•• Radioulnar deviation of a digit, usually caused by malformation of the middle phalanx (ie, delta phalanx, also called longitudinal epiphyseal bracket)

•• Small finger is most commonly affected. •• Usually inherited sporadically, but there is an autosomal dominant type that has variable penetrance.

Signs and Symptoms

•• Presents with a radioulnar curvature to the digit without a history of trauma •• Typically painless with no motor or sensory deficits Differential Diagnosis

•• Traumatic PIP contracture, camptodactyly, malunion of a fracture Diagnostic Considerations

•• Measure the degree of deformity. •• Obtain radiographs of the involved digit to evaluate for a longitudinal epiphyseal bracket.

Treatment and Expected Outcomes/Prognosis

•• If there is no epiphyseal bracket, the deformity will be nonprogressive and highly unlikely to require surgical intervention to improve function.

When to Refer

•• Refer to a pediatric hand surgeon on diagnosis. CONSTRICTION BAND SYNDROME (AMNIOTIC BAND SYNDROME) Introduction/Etiology/Epidemiology

•• Incidence is 1 in 1,200 to 1 in 15,000 live births •• Not inheritable •• Cause is unknown; may be due to germline developmental abnormality,

mechanical disruption of development, or embryonic vascular disruption associated with fetal exposure to toxin; historical eponyms have been abandoned •• Any or multiple limbs may be involved. •• Associated with clubfoot and craniofacial clefts; 80% have hand and/or finger manifestations such as amputation or syndactyly Signs and Symptoms

•• Usually asymptomatic; tips of digits may become painful during growth spurts if bone outgrows soft tissue

•• Examination demonstrates normal anatomy proximal to the constriction ring •• Syndactyly is common, and nonadjacent syndactyly is pathognomonic. Nail deformities are also common.

•• Constriction bands are commonly perpendicular to the long axis of the extremity.



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Differential Diagnosis

•• Transverse deficiency, symbrachydactyly, central ray deficiency Diagnostic Considerations

•• The diagnosis is made on physical examination. •• Multiple bands, nonadjacent syndactyly, and sinuses between digits affected by syndactyly are pathognomonic.

Treatment and Expected Outcomes/Prognosis

•• If multiple digit involvement, consider simple finger separation •• Severe lymphedema can occur, and vascular supply of the digit or extremity may

be compromised. In these cases, the deep circumferential rings should be released with excision or z-plasty.

When to Refer

•• Refer to a pediatric orthopaedic surgeon and/or pediatric hand surgeon on diagnosis.

SPRENGEL DEFORMITY Introduction/Etiology/Epidemiology

•• Congenital elevation of the scapula •• Caused by arrest of the typical caudal migration of the scapula from the

embryonic limb bud to the thorax; the superior border of the scapula normally lies at the level of the seventh vertebra, with its inferior border at the sixth rib. •• In 30% of cases, the scapula is attached to the cervical spine by cartilage, fibrous tissue, or an omovertebral bone further limiting scapulothoracic motion. •• Poses functional and cosmetic problems •• Bilateral in 10% to 30% of cases •• Males and females are equally affected. •• Associated conditions and anomalies ——Anomalies of the clavicles, vertebrae, ribs, and shoulder musculature ——Congenital scoliosis ——Sprengel deformity is present in 35% of children with Klippel-Feil syndrome (a disorder of segmentation of the cervical vertebrae). ——Possible renal or pulmonary disorders. Signs and Symptoms

•• Shoulder asymmetry and limited shoulder abduction due to loss of scapulothoracic motion and glenoid malpositioning

•• Thickened neck on the affected side •• Possible neck or shoulder pain •• Scapula is elevated and adducted, with its superior angle often palpable at base of neck

•• In mild cases, the condition may not be apparent until the child is older.

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Differential Diagnosis

•• Other causes of limited shoulder abduction include abnormal or weakened periscapular muscles.

•• Other causes of shoulder and neck asymmetry include torticollis and scoliosis. Diagnostic Considerations

•• Diagnosis is confirmed with anteroposterior (AP) radiographs of the chest and shoulders.

•• Cervical and thoracic spine radiographs are obtained to evaluate for associated anomalies.

Treatment and Expected Outcomes/Prognosis

•• Computed tomography and magnetic resonance imaging are useful for surgical planning.

•• Mild deformities ——Cause minimal functional impairment ——Physical therapy has no therapeutic value. •• More severe deformities ——Range of motion of the shoulder is limited, preventing abduction beyond 90 degrees.

——Surgery may be indicated for children with marked functional deficits and cosmetic deformity.

——Best surgical results are obtained when performed before 8 years of age. When to Refer

•• Refer patients with functional deficits, cosmetic deformity, or associated musculoskeletal anomalies to a pediatric orthopaedic surgeon.

CONGENITAL PROXIMAL RADIOULNAR SYNOSTOSIS Introduction/Etiology/Epidemiology

•• Bony bridge between proximal ulna and radius •• Occurs when the radius and ulna fail to completely differentiate longitudinally in the seventh week of embryonic development.

•• Occurs sporadically; occasionally may be inherited in an autosomal dominant fashion.

•• Between 50% and 80% of cases are bilateral. •• Males are more commonly affected than females (3:2). •• Associated conditions and anomalies (30%) ——Skeletal anomalies: developmental dysplasia of the hip, clubfoot, and deformities of the wrist and hand

——Syndromes: fetal alcohol, Apert, Williams, and Klinefelter Signs and Symptoms

•• Children present with a shortened forearm, most commonly held in pronation, with an inability to actively pronate and supinate the forearm.

•• Pain is unusual until adolescence, when chronic radial head subluxation may cause symptoms.



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•• For patients with bilateral proximal radioulnar synostosis (PRUS), activities of

daily living may be challenging, such as dressing and feeding oneself, using a keyboard, performing tabletop activities, and washing one’s face. •• Elbow flexion and extension are usually preserved; however, a contracture can develop, often with concomitant radial head dislocation. •• Wrist is often hypermobile, and shoulder can attempt to compensate for loss of pronation and supination Differential Diagnosis

•• Other causes of limited forearm motion include neuromuscular conditions such

as brachial plexus birth injury, congenital or traumatic radial head subluxation, fracture malunion with post-traumatic synostosis, and forearm deformity due to hereditary multiple exostosis.

Diagnostic Considerations

•• Radiographs confirm the diagnosis (Figure 29-1). •• Classification system (radiographic) proposed by Cleary et al ——Type I: fibrous synostosis with no bone involvement and a reduced radial head Figure 29-1. Lateral radiograph of forearm and elbow of a child with radioulnar synostosis. From Shriners Hospital for Children, Northern California. Reproduced with permission.

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——Type II: visible osseous synostosis with a normal-appearing, reduced radial head

——Type III: visible osseous synostosis with a hypoplastic and posteriorly dislocated radial head

——Type IV: osseous synostosis with an anteriorly dislocated, mushroom-shaped radial head

Treatment and Expected Outcomes/Prognosis

•• Few patients require surgery. •• Children with unilateral PRUS with less than 60 degrees of fixed pronation

compensate for the deficit by recruiting the wrist and shoulder to perform tasks and using the contralateral arm for activities requiring supination. •• Children with bilateral PRUS with more than 45 degrees of fixed pronation as well as those with unilateral fixed pronation greater than 60 degrees may benefit from operative management. ——Goal of surgery is to improve the fixed rotational position of the forearm ——Resecting the synostosis to allow rotational movement is not successful. When to Refer

•• Patients with functional limitations should be referred to a pediatric orthopaedic surgeon or pediatric hand surgeon around the time they begin school.

SYNDACTYLY Introduction/Etiology/Epidemiology

•• Failure of separation of adjacent digits during weeks 5 to 8 of

intrauterine development ——Complete: skin bridge extends to the fingertips ——Incomplete: skin bridge does not extend to the fingertips ——Simple: soft tissue interconnection only (Figure 29-2) ——Complex: side to side osseous union ——Complicated: accessory phalanges or abnormal bones •• Incidence is 1 in 2,500 live births; syndactyly is the most common CULD in the United States. Figure 29-2. Infant with simple syndactyly of the third and fourth fingers of the right hand.



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•• White males are most commonly affected. •• Fifty percent of cases are bilateral. •• Syndactyly may be an isolated finding, or associated with other anomalies, or

a component of a syndrome. Most cases are sporadic, but familial syndactyly may occur with autosomal-dominant transmission and incomplete penetrance, commonly affecting the ring and small fingers. •• Associated anomalies include concomitant polydactyly, constriction band syndrome, brachydactyly, toe webbing, and disorders of the spine and heart. •• Associated syndromes ——Poland syndrome: absence or underdevelopment of the pectoralis muscle with ipsilateral syndactyly and brachydactyly (ie, symbrachydactyly) ——Apert syndrome (ie, acrocephalosyndactyly): a rare autosomal-dominant disorder characterized by craniosynostosis, craniofacial anomalies, and anomalies of the hands and feet. „„Syndactyly is complete, complex, and symmetrical, resembling a spade or mitten. „„In some cases all digits, including the thumb, are involved, with a single conjoined nail (ie, synonychia). Signs and Symptoms

•• Webbed fingers noted at birth Differential Diagnosis

•• Isolated syndactyly is differentiated from syndactyly associated with other anomalies or syndromes by physical examination and family history.

Diagnostic Considerations

•• AP radiographs of the hands distinguish simple from complex and complicated syndactyly and evaluate for other bony anomalies such as synostosis, delta phalanx, and symphalangism.

Treatment

•• Early recognition and surgical treatment may prevent tethering and flexion contractures.

Expected Outcomes/Prognosis

•• Surgical repair of isolated syndactyly produces good cosmetic and functional outcomes.

•• For syndactyly associated with a syndrome, functional outcomes depend on the underlying deficits due to the syndrome, because altered hand function is often caused by more than syndactyly alone.

When to Refer

•• Refer isolated syndactyly to a pediatric hand surgeon on diagnosis. •• The complex nature of associated syndromes (eg, Apert syndrome) requires

a multidisciplinary approach, including pediatric orthopaedic, pediatric hand, orthodontic, and plastic surgeons, as well as otolaryngologists.

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CENTRAL RAY DEFICIENCY Introduction/Etiology/Epidemiology

•• Also known as ectrodactyly and split hand/split foot malformation •• Failure of formation or differentiation of the central ray(s) of the hand •• Historically, the terms “cleft hand,” “claw hand,” and “lobster claw” were applied to this condition, but they have fallen out of favor because of their nonclinical connotations. •• Typical form ——Autosomal-dominant inheritance pattern with incidence of 3 in 100,000 live births ——Also inherited as an X-linked recessive trait ——Associated with bilateral cleft foot ——Associated with syndromes including de Lange syndrome and acrorenal syndrome, as well as with cleft lip, cleft palate, imperforate anus, congenital heart anomalies, and deafness Signs and Symptoms

•• Typical form ——Usually bilateral ——V-shaped deformity, usually with absence of the central digit(s) ——There is often syndactyly, or occasionally polydactyly, of the digits bordering the cleft, or of the contralateral hand or feet.

——Multiple permutations of phalangeal and metacarpal deformities can occur. Differential Diagnosis

•• Differentiate typical central deficiency from symbrachydactyly via physical examination and family history.

Diagnostic Considerations

•• Diagnosis can be made on physical examination. •• Hand radiographs are obtained to evaluate for associated anomalies or for surgical planning.

Treatment and Expected Outcomes/Prognosis

•• Most children with central ray deficiency do not usually have problems

performing activities of daily living. However, the psychological consequences of the deformity merit operative intervention and correction.

When to Refer

•• Refer to a geneticist and a pediatric hand surgeon on diagnosis. SYMBRACHYDACTYLY Introduction/Etiology/Epidemiology

•• This condition, formerly known as atypical central deficiency, is no longer

considered a type of central deficiency, although the central part of the hand is typically hypoplastic



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•• Spontaneous occurrence (not inherited) •• May be associated with chest muscle and breast underdevelopment in the setting of Poland syndrome.

Signs and Symptoms

•• Usually unilateral •• U-shaped deformity with near absence of the index, long, and ring finger phalanges

•• Remnants of these absent digits are sometimes present. POLYDACTYLY HAND Introduction/Etiology/Epidemiology

•• Polydactyly, or duplication of digits, is the second most common CULD in the United States.

•• Postaxial polydactyly (ulnar or small finger) (Figure 29-3) ——Autosomal-dominant inheritance pattern with variable penetrance ——More common in Black children, with incidence of 1 in 143 live births versus 1 in 1,339 live births among white children

——Associated with underlying syndromes (eg, chondroectodermal dysplasia, Ellisvan Creveld syndrome) in white children

——Black children rarely present with concomitant syndromes.

•• Preaxial polydactyly (radial or thumb) (Figure 29-4) ——Common and occurs sporadically; most common congenital hand anomaly among persons of Asian heritage.

——Usually not associated with underlying syndromes. The exception is a

triphalangeal thumb, which can occur along with thumb duplication. Triphalangeal thumb typically demonstrates an autosomal-dominant pattern and may be associated with Holt-Oram syndrome and Fanconi anemia. Figure 29-3. Child with postaxial polydactyly of the right hand. From Shriners Hospital for Children, Northern California. Reproduced with permission.

264

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 29-4. Preaxial polydactyly—infant born with supernumerary thumbs.

•• Central polydactyly (index, long, or ring fingers) ——Occurs far less frequently than preaxial or postaxial varieties ——Autosomal-dominant pattern with associated traits or syndromes ——Affected children may also have toe polydactyly or concomitant syndactyly. Signs and Symptoms

•• Postaxial polydactyly: Classified as type A, with a well-developed supranumerary

digit, or type B, with a poorly developed, pedunculated digit without bony attachments. •• Central polydactyly: The ring finger is the most commonly duplicated digit. •• Preaxial polydactyly: Classified into 7 types, based on level of duplication and number of bones involved (Table 29-1). ——Type IV, which is a duplication at the level of the proximal phalanx, is the most common. ——While polydactyly is easy to identify, some type I and type II malformations only demonstrate a slightly widened nail plate. ——Physical examination and observation of play activities can help to determine which component is most dominant. It should be noted that neither is usually as well developed as an unaffected thumb, leading some pediatric hand surgeons to prefer the term split thumb. Differential Diagnosis

•• In white children, screen for associated syndromes, especially with postaxial

polydactyly. No screening is needed in Black children with a family history of postaxial polydactyly.

Diagnostic Considerations

•• Diagnosis is based on physical examination. •• Radiographs should be obtained to classify and evaluate the extent of the deformity.



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Table 29-1. Wassel Classification of Preaxial Polydactyly Type

Characteristics

Type I

Bifid distal phalanx

Type II

Duplicated distal phalanx

Type III

Bifid proximal phalanx

Type IV

Duplicated proximal phalanx (most common)

Type V

Bifid metacarpal

Type VI

Duplicated metacarpal

Type VII

Triphalangia

From Van Wyhe RD, Trost JG, Koshy JC, Pederson WC. The duplicated thumb: a review. Semin Plast Surg. 2016;30(4):181–188. Reprinted with permission.

Treatment

•• Postaxial polydactyly ——Type A malformations require more complex operative management, usually after age 2 years.

——Type B malformations may be treated by tying a suture or using a hemoclip

at the base of the digit. The digit will become ischemic and fall off, leaving a residual bump. •• Central polydactyly ——Surgical reconstruction is varied and depends on the functioning of the digits independently. ——Timing of surgery depends whether there is length mismatch to cause tethering and deformity. •• Preaxial polydactyly ——Type I polydactyly is often treated with observation. ——More involved deformities benefit from operative treatment, usually after age 2 years. Surgical options range from ablation of the lesser component with reconstruction of tendons and ligaments, osteotomies to realign the thumb, and excision of a central wedge and fusion of both components. Expected Outcomes/Prognosis

•• Surgical reconstruction usually has good outcomes. •• Reconstruction of more complex malformations may be complicated by joint contractures, instability, and angulation.

When to Refer

•• Refer to a pediatric hand surgeon on diagnosis. RADIAL DYSPLASIA Introduction/Etiology/Epidemiology

•• Radial deficiency (formerly termed radial clubhand) results from failure of

longitudinal formation, ranging from thumb hypoplasia to complete absence of the radius.

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•• Rare, occurring in 1 in 30,000 live births. •• Often bilateral, asymmetric, and associated with a number of anomalies and

syndromes, including Holt-Oram syndrome, thrombocytopenia absent radius (TAR), Fanconi anemia, and VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomalies, limb anomalies) association.

Signs and Symptoms

•• Any of a variety of radial-sided forearm, wrist, and hand deformities (Figure 29-5) Differential Diagnosis

•• Screen for associated syndromes. Diagnostic Considerations

•• Radial deficiency is classified based on radiographic morphology of the radius and

deficiencies of the wrist and thumb. This classification was modified by James et al to include deficiencies of the wrist and thumb. •• Workup for a possible syndrome is essential for all children with radial deficiency (including isolated thumb hypoplasia). In addition to a radiographic examination Figure 29-5. Anteroposterior radiograph (top) and clinical photograph (bottom) of the forearm and hand of a child with radial longitudinal deficiency and complexity absence of the radius. The ulna is bowed, and the carpus is subluxated radially on the distal ulna. A thumb is present. From Shriners Hospital for Children, Northern California. Reproduced with permission.



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of both upper extremities, radiographs of the spine and lower extremities, renal ultrasonography (VACTERL), and echocardiography (Holt-Oram sydrome) are also important components of the workup. Complete blood cell count and peripheral blood smears help to analyze platelet function to diagnose TAR. For children with Fanconi anemia, bone marrow failure occurs in the second decade; this condition is treatable with bone marrow transplant. This condition is diagnosed by chromosomal breakage analysis (diepoxybutane test) and does not become apparent until between 3 and 12 years of age. A chromosomal assay is therefore necessary to detect the condition prior to its onset. Treatment

•• Type 1 and mild type 2 deficiency can be treated with soft tissue stretching and bracing.

•• More severe deficiencies may require operative management. ——Patients undergoing surgery may benefit from preoperative soft tissue stretching.

——Surgical centralization of the carpus on the ulna may be performed after soft tissue stretching.

——Surgical treatment for patients with TAR is deferred until platelet counts have

approached 90,000. Platelet levels improve with age and usually normalize by 5 years. ——Surgical treatment for patients with Fanconi anemia poses a more severe challenge because platelet count does not improve spontaneously. The need for bone marrow transplant may postpone or preclude surgery. Expected Outcomes/Prognosis

•• Improvements in appearance do not always enable improved function. •• Some recurrence of the angulation, as well as joint stiffness, is common postoperatively.

When to Refer

•• Refer to a geneticist and a pediatric hand surgeon on diagnosis.

Bibliography—Part 10 Addar AM, Al-Sayed AA. Update and review on the basics of brachial plexus imaging. Medical Imaging and Radiology. 2014;2(1):1–9 Alfonso DT. Causes of neonatal brachial plexus palsy. Bull NYU Hosp Jt Dis. 2011;69(1):11–16 Al-Qattan MM. The outcome of Erb’s palsy when the decision to operate is made at 4 months of age. Plast Reconstr Surg. 2000;106(7):1461–1465 Aval SM, Durand P Jr, Shankwiler JA. Neurovascular injuries to the athlete’s shoulder: part I. J Am Acad Orthop Surg. 2007;15(4):249–256 Aval SM, Durand P Jr, Shankwiler JA. Neurovascular injuries to the athlete’s shoulder: part II. J Am Acad Orthop Surg. 2007;15(5):281–289 Boome RS, ed. The Brachial Plexus. New York, NY: Churchill Livingstone; 1997. Hand and Upper Extremity; vol 14.

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Boulet SL, Salihu HM, Alexander GR. Mode of delivery and birth outcomes of macrosomic infants. J Obstet Gynaecol. 2004;24(6):622–629 Comer GC, Potter M, Ladd AL. Polydactyly of the hand. J Am Acad Orthop Surg. 2018;26(3):75–82 Concannon LG, Harrast MA, Herring SA. Radiating upper limb pain in the contact sport athlete: an update on transient quadriparesis and stingers. Curr Sports Med Rep. 2012;11(1):28–34 Evans BT, Waters PM, Bae DS. Early results of surgical management of camptodactyly. J Pediatr Orthop. 2017;37(5):e317–e320 Executive summary: neonatal brachial plexus palsy. Report of the American College of Obstetricians and Gynecologists’ Task Force on Neonatal Brachial Plexus Palsy. Obstet Gynecol. 2014;123(4): 902–904 Forman M, Canizares MF, Bohn D, et al; CoULD Study Group. Association of radial longitudinal deficiency and thumb hypoplasia: an update using the CoULD Registry. J Bone Joint Surg Am. 2020;102(20):1815–1822 Gilbert A, Razaboni R, Amar-Khodja S. Indications and results of brachial plexus surgery in obstetrical palsy. Orthop Clin North Am. 1988;19(1):91–105 Gjorup L. Obstetrical lesion of the brachial plexus. Acta Neurol Scand. 1966;42(suppl 18):1–80 Goldfarb CA, Ezaki M, Wall LB, Lam WL, Oberg KC: The Oberg-Manske-Tonkin (OMT) classification of congenital upper extremities: update for 2020. J Hand Surg Am. 2020;45(6):542–547 Goldfarb CA, Shaw N, Steffen JA, Wall LB. The prevalence of congenital hand and upper extremity anomalies based upon the New York Congenital Malformations Registry. J Pediatr Orthop. 2017;37(2):144–148 Goodell PB, Bauer AS, Oishi S, et al. Functional assessment of children and adolescents with symbrachydactyly: a unilateral hand malformation. J Bone Joint Surg Am. 2017;99(13):1119–1128 Goodell PB, Bauer AS, Sierra FJ, James MA. Symbrachydactyly. Hand (N Y). 2016;11(3):262–270 Gordon M, Rich H, Deutschberger J, Green M. The immediate and long-term outcome of obstetric birth trauma. I. Brachial plexus paralysis. Am J Obstet Gynecol. 1973;117(1):51–56 Jackson ST, Hoffer MM, Parrish N. Brachial-plexus palsy in the newborn. J Bone Joint Surg Am. 1988;70(8):1217–1220 Jennett RJ, Tarby TJ, Krauss RL. Erb’s palsy contrasted with Klumpke’s and total palsy: different mechanisms are involved. Am J Obstet Gynecol. 2002;186(6):1216–1219 Joyner B, Soto MA, Adam HM. Brachial plexus injury. Pediatr Rev. 2006;27(6):238–239 Kelly JD IV, Aliquo D, Sitler MR, Odgers C, Moyer RA. Association of burners with cervical canal and foraminal stenosis. Am J Sports Med. 2000;28(2):214–217 Krul M, van der Wouden JC, Kruithof EJ, van Suijlekom-Smit LW, Koes BW. Manipulative interventions for reducing pulled elbow in young children. Cochrane Database Syst Rev. 2017;7(7): CD007759 Mallet J. Obstetrical paralysis of the brachial plexus. II. Therapeutics. Treatment of sequelae. Priority for the treatment of the shoulder. Method for the expression of results. Article in French. Rev Chir Orthop Reparatrice Appar Mot. 1972;58(suppl 1):166–168 McNeely PD, Drake JM. A systematic review of brachial plexus surgery for birth-related brachial plexus injury. Pediatr Neurosurg. 2003;38(2):57–62 Medina JA, Lorea P, Elliot D, Foucher G. Correction of clinodactyly by early physiolysis: 6-year results. J Hand Surg Am. 2016;41(6):e123–e127 Meyer SA, Schulte KR, Callaghan JJ, et al. Cervical spinal stenosis and stingers in collegiate football players. Am J Sports Med. 1994;22(2):158–166



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Narakas AO, Lamb DW. Obstetrical brachial plexus injuries. In: Lamb DW, ed. The Paralysed Hand. Edinburgh, Scotland: Churchill Livingstone; 1987:116–135. The Hand and Upper Limb; vol 1. Page S, Guy JA. Neurapraxia, “stingers,” and spinal stenosis in athletes. South Med J. 2004;97(8):766–769 Piatt JH Jr. Birth injuries of the brachial plexus. Clin Perinatol. 2005;32(1):39–59, v–vi Pitt M, Vredeveld JW. The role of electromyography in the management of the brachial plexus palsy of the newborn. Clin Neurophysiol. 2005;116(8):1756–1761 Roach ES. Surgery for brachial plexus palsy: does timing matter? Arch Neurol. 2006;63(7): 1034–1035 Sever JW. Obstetric paralysis: report of eleven hundred cases. JAMA. 1925;85(24):1862–1865 Smith BW, Daunter AK, Yang LJS, Wilson TJ. An update on the management of neonatal brachial plexus palsy—replacing old paradigms: a review. JAMA Pediatr. 2018;172(6): 585–591 Smith EC, Xixis KI, Grant GA, Grant SA. Assessment of obstetric brachial plexus injury with preoperative ultrasound. Muscle Nerve. 2016;53(6):946–950 Sparagana SP, Ezaki M. Microneurosurgery for neonatal brachial plexus palsy: the need for more information. Arch Neurol. 2006;63(7):1033–1034 Tierney RT, Maldjian C, Mattacola CG, Straub SJ, Sitler MR. Cervical spine stenosis measures in normal subjects. J Athl Train. 2002;37(2):190–193 Todd M, Shah GV, Mukherji SK. MR imaging of brachial plexus. Top Magn Reson Imaging. 2004;15(2):113–125 Torres C, Mailley K, Del Carpio O’Donovan R. MRI of the brachial plexus: modified imaging technique leading to a better characterization of its anatomy and pathology. Neuroradiol J. 2013;26(6):699–719 Walle T, Hartikainen-Sorri AL. Obstetric shoulder injury. Associated risk factors, prediction and prognosis. Acta Obstet Gynecol Scand. 1993;72(6):450–454 Waters PM. Comparison of the natural history, the outcome of microsurgical repair, and the outcome of operative reconstruction in brachial plexus birth palsy. J Bone Joint Surg Am. 1999;81(5):649–659 Waters PM. Update on management of pediatric brachial plexus palsy. J Pediatric Orthop B. 2005;14(4):233–244 Waters PM, Smith GR, Jaramillo D. Glenohumeral deformity secondary to brachial plexus birth palsy. J Bone Joint Surg Am. 1998;80(5):668–677 Weinberg J, Rokito S, Silber JS. Etiology, treatment, and prevention of athletic “stingers.” Clin Sports Med. 2003;22(3):493–500, viii Wong K, Troncoso AB, Calello DP, Salo D, Fiesseler F. Radial head subluxation: factors associated with its recurrence and radiographic evaluation in a tertiary pediatric emergency department. J Emerg Med. 2016;51(6):621–627. Vitello S, Dvorkin R, Sattler S, Levy D, Ung L. Epidemiology of nursemaid’s elbow. West J Emerg Med. 2014;15(4):554–557

Part 11: Pediatric Sports Medicine and Injuries TOPICS COVERED 30. Preparticipation Physical Evaluation......................................... Timing Musculoskeletal History Musculoskeletal Examination Clearance Legal Issues Athletes With Special Needs 31. Strains, Sprains, and Dislocations............................................. Muscle Strains Joint Sprains Ankle Sprains Acromioclavicular Joint Sprain Multidimensional Instability of the Shoulder Traumatic Shoulder Subluxation or Dislocation 32. Traumatic Muscle Injuries....................................................... Muscle Contusions Quadriceps Contusion Hip Pointer Pelvic Avulsion Fractures 33. Overuse Injuries..................................................................... Little League Shoulder Rotator Cuff Tendinitis/Impingement Little League Elbow Osgood-Schlatter Disease Sinding-Larsen-Johansson Syndrome Sever Disease Iselin Disease Stress Fractures: General Metatarsal Stress Fractures Tibial Stress Fractures Femoral Neck Stress Fractures Relative Energy Deficiency in Sport Pelvic Apophysitis

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271

283

301

311

34. Patellofemoral Disorders......................................................... Patellofemoral Pain Syndrome Patellar Subluxation or Dislocation 35. Internal Derangement of the Knee (Knee Injury)........................ Anterior Cruciate Ligament Sprains Tibial Eminence Fracture Medial Collateral Ligament Sprain Posterior Cruciate Ligament Injury Meniscus Tears Discoid Meniscus (Snapping Knee Syndrome) Osteochondritis Dissecans 36. Sports-Related Concussion...................................................... 37. Pediatric Athletes With Disabilities........................................... Types of Disabilities Social Versus Medical Model of Disability Physical Activity Guidelines Sports Participation Important Considerations for Some Selected Disabilities Preparticipation Medical Screening Injury Patterns

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343

355

375 389

CHAPTER 30

Preparticipation Physical Evaluation Introduction

•• This chapter discusses using the preparticipation physical evaluation (PPE) for

musculoskeletal evaluation and clearance. The American Academy of Pediatrics publication Preparticipation Physical Evaluation, Fifth Edition, comprehensively covers the PPE, including evaluation and clearance related to medical conditions and mental health. •• The PPE is a tool for screening athletes before the start of training and competition. •• The purpose of the PPE is to facilitate and encourage safe participation, not to exclude athletes from participation. •• As defined in Preparticipation Physical Evaluation, Fifth Edition, the primary goals of the PPE are to ——Determine general physical and psychological health ——Evaluate for disabling or life-threatening conditions ——Evaluate for conditions that may predispose to injury or illness ——Provide an opportunity for discussion of health and lifestyle issues ——Serve as an entry point into the health care system for adolescents without a medical home

Timing

•• Ideally, the PPE is integrated into an athlete’s annual health supervision examination.

•• The PPE can be incorporated into well-child care visits starting at 6 years of age. •• PPE should be completed at least 6 weeks before the start of preseason practice.

Musculoskeletal History

•• The musculoskeletal history alone will identify 67% to 92% of the musculoskeletal problems affecting athletes.

•• The most efficient way to obtain a complete and accurate history is to have the athlete and parent complete a comprehensive, validated questionnaire (Figure 30-1).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• The goal is to identify any chronic conditions or incompletely rehabilitated injuries.

•• Ask if there is pain, instability, or limitations caused by previous injuries or surgeries.

■ PREPARTICIPATION PHYSICAL EVALUATION

HISTORY FORM Note: Complete and sign this form (with your parents if younger than 18) before your appointment. Name: ________________________________________________________________

Date of birth: _____________________________

Date of examination: _______________________________ Sport(s): _____________________________________________________ Sex assigned at birth (F, M, or intersex): _________________ How do you identify your gender? (F, M, or other): ___________________ List past and current medical conditions. _____________________________________________________________________________ _______________________________________________________________________________________________________________ Have you ever had surgery? If yes, list all past surgical procedures. _______________________________________________________ _______________________________________________________________________________________________________________ Medicines and supplements: List all current prescriptions, over-the-counter medicines, and supplements (herbal and nutritional). _______________________________________________________________________________________________________________ _______________________________________________________________________________________________________________ Do you have any allergies? If yes, please list all your allergies (ie, medicines, pollens, food, stinging insects). _______________________________________________________________________________________________________________ _______________________________________________________________________________________________________________ Patient Health Questionnaire Version 4 (PHQ-4) Over the last 2 weeks, how often have you been bothered by any of the following problems? (Circle response.) Not at all

Several days

Over half the days

Feeling nervous, anxious, or on edge

0

1

2

Nearly every day 3

Not being able to stop or control worrying

0

1

2

3

Little interest or pleasure in doing things

0

1

2

3

Feeling down, depressed, or hopeless

0

1

2

3

(A sum of ≥3 is considered positive on either subscale [questions 1 and 2, or questions 3 and 4] for screening purposes.) GENERAL QUESTIONS (Explain “Yes” answers at the end of this form. Circle questions if you don’t know the answer.)

HEART HEALTH QUESTIONS ABOUT YOU (CONTINUED ) Yes

No

1. Do you have any concerns that you would like to discuss with your provider?

HEART HEALTH QUESTIONS ABOUT YOUR FAMILY

3. Do you have any ongoing medical issues or recent illness? 4. Have you ever passed out or nearly passed out during or after exercise? 5. Have you ever had discomfort, pain, tightness, or pressure in your chest during exercise? 6. or skip beats (irregular beats) during exercise? 7. Has a doctor ever told you that you have any heart problems? 8. Has a doctor ever requested a test for your heart? For example, electrocardiography (ECG) or echocardiography.

No

Yes

No

10. Have you ever had a seizure?

2. Has a provider ever denied or restricted your participation in sports for any reason?

HEART HEALTH QUESTIONS ABOUT YOU

Yes

9. Do you get light-headed or feel shorter of breath than your friends during exercise?

Yes

No

11. Has any family member or relative died of heart problems or had an unexpected or unexplained sudden death before age 35 years (including drowning or unexplained car crash)? 12. Does anyone in your family have a genetic heart problem such as hypertrophic cardiomyopathy (HCM), Marfan syndrome, arrhythmogenic right ventricular cardiomyopathy (ARVC), long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome, or catecholaminergic polymorphic ventricular tachycardia (CPVT)? 13. Has anyone in your family had a pacemaker or

Figure 30-1. Preparticipation physical evaluation history form. (Spanish version available at https://www.aap.org/en-us/Documents/PPE-History-Form-%28Spanish%29.pdf.) From Bernhardt DT, Roberts WO, eds. Preparticipation Physical Evaluation. 5th ed. Itasca, IL: American Academy of Pediatrics; 2019.



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BONE AND JOINT QUESTIONS

Yes

No

MEDICAL QUESTIONS (CONTINUED )

14. Have you ever had a stress fracture or an injury to a bone, muscle, ligament, joint, or tendon that caused you to miss a practice or game?

25. Do you worry about your weight?

15. Do you have a bone, muscle, ligament, or joint injury that bothers you?

27. Are you on a special diet or do you avoid certain types of foods or food groups?

MEDICAL QUESTIONS

Yes

No

30. menstrual period?

18. Do you have groin or testicle pain or a painful bulge or hernia in the groin area?

22. Have you ever become ill while exercising in the heat? 23. Do you or does someone in your family have sickle cell trait or disease? 24. Have you ever had or do you have any problems with your eyes or vision?

No

29. Have you ever had a menstrual period?

17. Are you missing a kidney, an eye, a testicle (males), your spleen, or any other organ?

21. Have you ever had numbness, had tingling, had weakness in your arms or legs, or been unable to move your arms or legs after being hit or falling?

Yes

28. Have you ever had an eating disorder? FEMALES ONLY

breathing during or after exercise?

20. Have you had a concussion or head injury that caused confusion, a prolonged headache, or memory problems?

No

26. Are you trying to or has anyone recommended that you gain or lose weight?

16.

19. Do you have any recurring skin rashes or rashes that come and go, including herpes or methicillin-resistant Staphylococcus aureus (MRSA)?

Yes

31. When was your most recent menstrual period? 32. How many periods have you had in the past 12 months? Explain “Yes” answers here.

______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________ ______________________________________________________

I hereby state that, to the best of my knowledge, my answers to the questions on this form are complete and correct. Signature of athlete: ______________________________________________________________________________________________________ Signature of parent or guardian: __________________________________________________________________________________________ Date: ________________________________________________________ © 2019 American Academy of Family Physicians, American Academy of Pediatrics, American College of Sports Medicine, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, and American Osteopathic Academy of Sports Medicine. Permission is granted to reprint for noncommercial, educational purposes with acknowledgment.

Figure 30-1, continued

•• Any condition that has previously disqualified an athlete from competition should be reexamined in depth.

•• Previous surgery should be documented in detail (eg, “anterior cruciate ligament reconstruction” rather than “knee surgery”). ——Inquire whether the surgeon has prescribed specific activity restrictions, a brace or support, protective equipment, or modifications for sports, and whether postoperative rehabilitation has been completed. •• Use of a supportive brace or device may be prescribed by a treating physician for return to play, or it may indicate a self-treated or unresolved injury. ——Further questioning and examination of the specific joint may be necessary to determine whether additional treatment is required and whether the brace is appropriate. ——Inspect braces for proper fit and integrity before each season.

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•• For any athletes with a history of stress fracture ——Dietary and menstrual history should be reviewed in detail (see the discussion

of relative energy deficiency in sport [RED-S] in Chapter 33, Overuse Injuries). ——Training errors should be corrected and improper equipment (eg, shoes) replaced. ——Examination should focus on identifying risk factors such as muscle weakness, pes cavus, or overpronation that can be addressed through rehabilitation or supportive orthoses (see Chapter 33, Overuse Injuries).

Musculoskeletal Examination

•• Goals of the musculoskeletal examination are to ——Evaluate for recovery from previous injuries (Box 30-1) ——Identify any modifiable risk factors for reinjury (eg, muscle weakness, inflexibility)

——Identify any asymmetries in joint motion or muscle strength or size that may indicate an underlying musculoskeletal condition

•• The orthopaedic screening examination (Figure 30-2) is sufficient in the asymptomatic athlete with no history of prior injury.

•• The orthopaedic screening examination should be supplemented with a

comprehensive examination of the affected area(s) for patients with ——History of previous injury ——Pain, instability, locking, limited range of motion, weakness, or atrophy noted in the history or on the screening examination •• Referral to a sports medicine physician is indicated when the required comprehensive examination is beyond the examiner’s expertise.

Clearance

•• General guidelines for clearance after sprains, strains, dislocations, and overuse injuries are listed in Box 30-1.

Box 30-1. Criteria for Clearance to Play After a Sprain, Strain, Dislocation, or Overuse Injury • Full, pain-free range of motion of the injured joint or joints controlled by the injured muscle • Minimal or no swelling • Near-normal muscle strength (at least 85%–90% of the uninjured side) (If a supportive brace or taping is required to achieve, that is acceptable.) • No pain or instability with sports-specific activities (eg, running, jumping, cutting)



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Figure 30-2. The general musculoskeletal screening examination consists of the following: (1) inspection, athlete standing, facing toward examiner (symmetry of trunk, upper extremities); (2) forward flexion, extension, rotation, lateral flexion of neck (range of motion, cervical spine); (3) resisted shoulder shrug (strength, trapezius); (4) resisted shoulder abduction (strength, deltoid); (5) internal and external rotation of shoulder (range of motion, glenohumeral joint); (6) extension and flexion of elbow (range of motion, elbow); (7) pronation and supination of forearm or wrist (range of motion, elbow and wrist); (8) clench fist, then spread fingers (range of motion, hand and fingers); (9) inspection, athlete facing away from examiner (symmetry of trunk, upper extremities); (10) back extension, knees straight (spondylolysis/spondylolisthesis); (11) back flexion with knees straight, facing toward and away from examiner (range of motion, thoracic and lumbosacral spine; spine curvature; hamstring flexibility); (12) inspection of lower extremities, contraction of quadriceps muscles (alignment, symmetry); (13) “duck walk” 4 steps (motion of hip, knee, and ankle; strength; balance); (14) toe stand and heel walk (symmetry, calf; strength; balance). From Miller SM, Peterson AR. The sports preparticipation evaluation. Pediatr Rev. 2019;40(3):108–128.

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•• For fractures, clearance should be determined by the treating physician. ——In some cases, return to play may be allowed in a padded cast or splint,

depending on the child’s comfort, the risk of further injury, and the rules of the sports organization. •• For developmental conditions and deformities, activity modifications may be necessary based on symptoms or physical abilities. •• Clearance falls into one of 5 categories (Figure 30-3) and should be individualized based on the following questions: ——Does participation place the athlete at risk for serious injury or illness? ——Does participation place other participants at risk for injury or illness? ——Can the athlete safely participate while being treated (eg, rehabilitation program, brace)? „„In some cases, a protective brace, padding, or taping may provide the stability or protection needed for clearance. „„Whether a specific brace or padding technique is allowed is determined by the rules of the specific sports organization, and the final decision is usually made by the sporting event’s officials. ——Can limited participation be allowed while treatment is being completed? „„For example, a baseball pitcher with an elbow injury may be able to safely bat and play first base. „„Determine which strength and conditioning activities are safe so that the athlete can maintain fitness during recovery. ——If clearance is denied only for certain sports, in what activities can the athlete safely participate? „„For example, an athlete with an upper extremity injury may be able to safely participate in soccer or cross-country running. „„The athlete may be referred to a sports medicine physician if there are any questions or uncertainties regarding clearance. „„Medical decisions to permanently restrict sports participation are best made by consensus with subspecialty consultation and discussion with the athlete and family.

Legal Issues

•• By the high school level, all states require some type of PPE. •• Legislative requirements vary by state for the timing and content of the evaluation and qualifications of the examiner. ——In several states, nurses, physician assistants, and chiropractors are allowed to complete the PPE. •• Health Insurance Portability and Accountability Act guidelines allow a physician to communicate to the school only that the athlete is cleared or not cleared. ——Discussion with nonmedical school personnel of the details of the PPE or the reason an athlete is not cleared is not permitted without the athlete’s and parent’s consent. ——The use of the PPE Medical Eligibility Form (Figure 30-3) allows physicians (with athlete’s and parent’s consent) to communicate medical information (eg, allergies, medicines) and relevant medical conditions (eg, seizure disorder, asthma, diabetes).



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■ PREPARTICIPATION PHYSICAL EVALUATION

MEDICAL ELIGIBILITY FORM Name: _______________________________________________________

Date of birth: _________________________

Medically eligible for all sports without restriction Medically eligible for all sports without restriction with recommendations for further evaluation or treatment of

__________________________________________________________________________________________________ __________________________________________________________________________________________________ Medically eligible for certain sports

__________________________________________________________________________________________________ __________________________________________________________________________________________________ Not medically eligible pending further evaluation Not medically eligible for any sports Recommendations: ___________________________________________________________________________________

__________________________________________________________________________________________________ __________________________________________________________________________________________________ I have examined the student named on this form and completed the preparticipation physical evaluation. The athlete does not have apparent clinical contraindications to practice and can participate in the sport(s) as outlined on this form. A copy of the physical arise after the athlete has been cleared for participation, the physician may rescind the medical eligibility until the problem is resolved and the potential consequences are completely explained to the athlete (and parents or guardians). Name of health care professional (print or type): __________________________________________

Date: ____________________________

Address: _________________________________________________________________________

Phone: ___________________________

Signature of health care professional: _____________________________________________________________________, MD, DO, NP, or PA

SHARED EMERGENCY INFORMATION Allergies: ____________________________________________________________________________________________

__________________________________________________________________________________________________ __________________________________________________________________________________________________ Medications: ________________________________________________________________________________________

__________________________________________________________________________________________________ __________________________________________________________________________________________________ Other information: ____________________________________________________________________________________

__________________________________________________________________________________________________ __________________________________________________________________________________________________ Emergency contacts: ___________________________________________________________________________________

__________________________________________________________________________________________________ __________________________________________________________________________________________________ © 2019 American Academy of Family Physicians, American Academy of Pediatrics, American College of Sports Medicine, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, and American Osteopathic Academy of Sports Medicine. Permission is granted to reprint for noncommercial, educational purposes with acknowledgment.

Figure 30-3. Medical eligibility form. From Bernhardt DT, Roberts WO, eds. Preparticipation Physical Evaluation. 5th ed. Itasca, IL: American Academy of Pediatrics; 2019.

•• It is in the athlete’s best interest to have relevant medical information available to

the team’s athletic trainer. ——Athletic trainers are frequently the first responders at sporting events. ——Athletic trainers can supervise rehabilitation protocols and communicate with physicians about the athlete’s progress or ability to perform sports-specific exercises.

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Athletes With Special Needs

•• The Rehabilitation Act of 1973 and the Americans With Disabilities Act of 1990 mandate equal opportunity to anyone wishing to participate in athletics.

•• For a complete discussion, see Chapter 37, Pediatric Athletes With Disabilities. •• For athletes with special needs, the PPE should be more comprehensive. ——The use of supplemental history forms can be particularly helpful (Figure 30-4).

——For athletes participating in Special Olympics, there is a dedicated form, which

can be found at https://media.specialolympics.org/resources/leading-a-program/ registration-forms/SOI_Medical%20Form_US%20Programs_July2017.pdf.

■ PREPARTICIPATION PHYSICAL EVALUATION

ATHLETES WITH DISABILITIES FORM: SUPPLEMENT TO THE ATHLETE HISTORY Name: _________________________________________________________________

Date of birth: ____________________________

1. Type of disability: 2. Date of disability: 3. 4. Cause of disability (birth, disease, injury, or other): 5. List the sports you are playing: Yes

No

6. Do you regularly use a brace, an assistive device, or a prosthetic device for daily activities? 7. Do you use any special brace or assistive device for sports? 8. Do you have any rashes, pressure sores, or other skin problems? 9. Do you have a hearing loss? Do you use a hearing aid? 10. Do you have a visual impairment? 11. Do you use any special devices for bowel or bladder function? 12. Do you have burning or discomfort when urinating? 13. 14. Have you ever been diagnosed as having a heat-related (hyperthermia) or cold-related (hypothermia) illness? 15. Do you have muscle spasticity? 16. Do you have frequent seizures that cannot be controlled by medication? Explain “Yes” answers here.

_________________________________________________________________________________________________________________ _________________________________________________________________________________________________________________ _________________________________________________________________________________________________________________ Please indicate whether you have ever had any of the following conditions: Yes

No

Atlantoaxial instability Radiographic (x-ray) evaluation for atlantoaxial instability Dislocated joints (more than one) Easy bleeding Enlarged spleen Hepatitis Osteopenia or osteoporosis

Numbness or tingling in arms or hands Numbness or tingling in legs or feet Weakness in arms or hands Weakness in legs or feet Recent change in coordination Recent change in ability to walk Latex allergy Explain “Yes” answers here.

_________________________________________________________________________________________________________________ _________________________________________________________________________________________________________________ _________________________________________________________________________________________________________________ I hereby state that, to the best of my knowledge, my answers to the questions on this form are complete and correct.

______________________________________________________________________________________________________ ______________________________________________________________________________________________ _________________________________________________________

Signature of athlete:

Signature of parent or guardian: Date:

© 2019 American Academy of Family Physicians, American Academy of Pediatrics, American College of Sports Medicine, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, and American Osteopathic Academy of Sports Medicine. Permission is granted to reprint for noncommercial, educational purposes with acknowledgment.

Figure 30-4. Supplemental history form for athletes with disabilities. From Bernhardt DT, Roberts WO, eds. Preparticipation Physical Evaluation. 5th ed. Itasca, IL: American Academy of Pediatrics; 2019.



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——An evaluation of braces, prosthetic devices, or specialized equipment such as wheelchairs should be included in the PPE.

——Input from physical or occupational therapists about functional abilities is helpful.

——Clearance for athletes with trisomy 21 or atlantoaxial instability is discussed in Chapter 17, Atlantoaxial Rotatory Subluxation or Fixation, and Chapter 73, Down Syndrome.

Resource

•• Preparticipation Physical Evaluation (web page), American Academy of

Pediatrics. https://www.aap.org/en-us/advocacy-and-policy/aap-health-initiatives/ Pages/PPE.aspx

CHAPTER 31

Strains, Sprains, and Dislocations Muscle Strains INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A strain is a tear of some or all of the fibers in a muscle. •• A strain is caused by a sudden, forceful change in the length of the muscle-tendon unit, most commonly an eccentric contraction against a significant load.

•• Less frequently, strains result from a rapid or forceful stretch to a muscle or from repetitive overuse.

•• Athletes who sprint, jump, leap, or kick are most susceptible to strain. •• Strains usually occur at the musculotendinous junction. •• Strains most commonly affect muscles in the lower extremity and those that cross 2 joints (ie, hamstrings, rectus femoris, gastrocnemius).

•• The hamstrings are the most frequently strained muscle in the lower extremity; this can lead to significant disability.

SIGNS AND SYMPTOMS

•• Acute-onset muscle pain during activity •• Some patients report a pop or tearing sensation. •• Weight bearing is usually painful. •• Physical examination reveals some or all of the following: ——Muscle tenderness ——Edema or ecchymosis ——Pain and weakness with contraction of the injured muscle ——Pain with passive stretch of the injured muscle ——Palpable defect in the muscle DIFFERENTIAL DIAGNOSIS

•• Apophyseal avulsion fracture ——Frequently mistaken for a muscle strain in the skeletally immature athlete ——If there is any bony tenderness or if pain is at the proximal or distal aspect of

the muscle, rather than the midsubstance, radiographs should be obtained to rule out an avulsion fracture.

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•• Stress fracture ——A stress fracture may produce reactive edema in the adjacent muscle, mimicking a muscle strain.

DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is established clinically. •• Strains are graded into 3 categories (Table 31-1). •• Magnetic resonance imaging (MRI) may be performed to confirm location and degree of injury.

•• Ultrasonography is an emerging imaging modality in the diagnosis of muscle injuries. TREATMENT

•• Initial treatment includes rest, ice, compression, and elevation (RICE). ——Ice can be applied for 10 to 15 minutes every few hours. ——Heat and vigorous stretching or massage should be avoided during the initial injury period.

•• Crutches may be necessary until weight bearing is comfortable.

Table 31-1. Common Grading of Strains and Sprains Grade

Characteristics

Strains 1

Stretch injury Some torn individual fibers, but comprising only a small percentage of overall muscle No loss of strength or motion

2

Partial tear of muscle Some degree of ecchymosis or swelling Some loss of strength or motion

3

Complete rupture of muscle Major hemorrhage and complete loss of function

Sprains 1

Stretching of ligament fibers Minimal to no swelling Stress tests demonstrate pain but no laxity.

2

Partial tear of one or more ligaments Moderate pain and swelling Some laxity on stress test

3

Complete disruption of ligament fibers Significant pain, swelling, and bruising Gross laxity on stress test of ligament



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•• Use of nonsteroidal anti-inflammatory drugs (NSAIDs) is controversial. ——Studies demonstrate that NSAIDs can reduce inflammation and pain in the

short term but may impair the muscle repair process in the long term, resulting in decreased muscle tensile strength and force production. •• A rehabilitation program of progressive stretching and strengthening exercises should be initiated as soon as pain begins to subside because early mobilization can help facilitate recovery. •• A compression sleeve for the injured muscle may help reduce pain and improve function during the healing process. EXPECTED OUTCOMES/PROGNOSIS

•• Return to play ranges from 2 to 3 days for mild strains to 3 to 12 weeks for severe strains.

•• Hamstring strains have a high rate of recurrence (12%–31%) and can lead to

prolonged disability if rehabilitation is inadequate or return to play is rushed.

•• Hip adductor strains (groin pulls) take longer to heal and are also prone to reinjury. WHEN TO REFER

•• Rarely, muscle strains require management by a sports medicine physician or orthopaedic surgeon. ——Severe strains with significant loss of motion, strength, or function ——Large, tense, painful hematomas, which may be aspirated to reduce pain

PREVENTION

•• Warming up (5-10 minutes of light jogging or calisthenics) before physical activity

may reduce the risk of muscle strains by increasing blood flow to muscles, making them more pliable. •• Avoiding exercise while already fatigued may help reduce the risk of a muscle strain.

Joint Sprains INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A sprain is a tear of some or all of the fibers in a ligament. •• A sprain is caused by a sudden, unnatural movement of a joint (eg, inversion or twisting of an ankle).

•• Sprains are the most common injuries in sports for all age groups. •• Radiographs are frequently necessary to rule out fracture. •• Severity is graded into 3 categories (Table 31-1). PRINCIPLES OF TREATMENT

•• PRICEM: protection, rest, ice, compression, elevation, and mobilization ——Protection „„Crucial

for early ligament healing needed stability for moderate and severe sprains

„„Provides

286

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide „„Continued

until

™™ Weight bearing is pain-free for lower extremity injuries ™™ Functional motion is pain-free for upper extremity injuries

——Rest

„„Reduce

——Ice

activities to a pain-free level.

„„15

to 20 minutes at a time be done as frequently as once an hour „„Do not apply ice directly to skin. „„Heat should be avoided during the first few days because it will worsen swelling. ——Compression „„An elastic bandage should be wrapped distal to proximal. „„Remove for sleeping ——Elevation „„Above the heart as much as possible ——Mobilization „„Early mobilization, which is appropriate for most mild and moderate sprains, can help facilitate recovery. „„For all but the mildest of sprains, a rehabilitation program to restore range of motion, flexibility, strength, and proprioception will speed recovery and should be initiated as early as tolerated by the athlete. •• NSAIDs ——Reduce pain and inflammation, which may shorten recovery time by allowing rehabilitation to progress more quickly ——May increase early ligament strength ——Ibuprofen 10 mg/kg 3 times a day or naproxen 5 to 7 mg/kg twice a day for 7 to 10 days •• Criteria for return to sports (see Chapter 30, Preparticipation Physical Evaluation, Box 30-1) ——Little to no pain ——Full range of motion ——Near-normal strength ——Able to perform sport-specific drills with no pain or instability „„A functional brace or taping technique may be used to achieve this. „„Can

Ankle Sprains

•• Ankle sprains account for up to 28% of all sports-related injuries. •• Athletes between 15 and 19 years of age are most frequently affected. •• Basketball, soccer, American football, and volleyball are the most commonly involved sports.

•• Eighty-five percent are lateral (Figure 31-1) ——The anterior talofibular and calcaneofibular ligaments are the most frequently injured.

——Usual mechanism is excessive inversion of a plantar flexed ankle

•• Ten percent are syndesmotic (high ankle sprains) (Figure 31-1). ——Injury to the syndesmosis complex (interosseous membrane and inferior tibiofibular ligaments)

——Usual mechanism is excessive external rotation on a dorsiflexed ankle



Chapter 31: Strains, Sprains, and Dislocations

A

287

B

Figure 31-1. A, Lateral ankle ligaments (posterior talofibular ligament, anterior talofibular ligament, and calcaneofibular ligament) and inferior tibiofibular ligaments. B, Location of lateral ankle ligaments drawn on patient’s ankle. Panel A from Sprains and strains. National Institute for Arthritis and Musculoskeletal and Skin Diseases Website. https://www.niams.nih.gov/Health_Info/Sprains_strains/default.asp. Published July 2012. Accessed November 11, 2013. Panel B from Sullivan JA, Anderson SJ, eds. Care of the Young Athlete. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2000:415.

•• Five percent are medial. ——Injury to deltoid ligament ——Mechanism is excessive eversion, usually from a high-impact injury. ——More commonly associated with fibula fractures SIGNS AND SYMPTOMS

•• Pain after a twisting injury to the ankle •• Some report a pop at the time of injury. •• Weight bearing is usually painful. •• Swelling and bruising may be mild, moderate, or severe. •• Range of motion is often limited because of pain. •• The injured ligament is tender to palpation (Figure 31-1, B). •• Anterior drawer test (see Chapter 4, Physical Examination, Figure 4-39) and talar tilt test (Figure 31-2) ——Can confirm the diagnosis of lateral ankle sprain and grade injury severity ——Sensitivity (96%) and specificity (84%) for detecting a ligament tear is best at 5 days after the injury. ——Less reliable during the acute phase because patient guarding can cause falsenegative result

288

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 31-2. Talar tilt test is performed by stabilizing the distal tibia-fibula with the non-dominant hand while the dominant hand is cupped around the calcaneus. The examiner then inverts the ankle (arrow) and grades the amount of translation/laxity compared to the uninjured ankle, as well as noting any pain with this maneuver. From Anderson SJ, Harris SS, eds. Care of the Young Athlete. 2nd ed. Elk Grove Village, IL: American Academy of Pediatrics; 2010.

•• Reverse talar tilt test ——Grades severity of medial ankle sprains •• External rotation test ——Forced external rotation of the ankle ——Painful with syndesmotic sprains, but also with fractures •• Squeeze test ——Compression of tibia and fibula at mid-calf ——Causes pain at the ankle with syndesmosis sprains, but also with fractures DIFFERENTIAL DIAGNOSIS

•• Ankle fracture ——Skeletally immature patients with tenderness over the physis but normal

radiographic findings should be treated for a Salter-Harris type 1 injury (see Chapter 42, Physeal Fractures). ——Avulsion fracture of the fifth metatarsal „„Caused by same mechanism as a lateral ankle sprain „„There will be tenderness at the base of the fifth metatarsal. „„Foot radiographs (anteroposterior [AP], lateral, oblique) are required for diagnosis. •• Peroneal tendon subluxation ——Subluxation can be reproduced with active ankle eversion. DIAGNOSTIC CONSIDERATIONS

•• The diagnosis of a lateral ankle sprain can be established clinically. ——Radiographs (AP, lateral, mortise) should be obtained to rule out fracture if

there is bony tenderness or inability to bear weight immediately after the injury and for 4 steps in the clinic/emergency department. •• Radiographs should be obtained for all medial and syndesmosis sprains. ——Medial sprains are more commonly associated with fractures. ——Syndesmosis sprains require radiographs to grade severity. „„The clear space between the tibia and fibula 1 cm above the joint line should be less than 5 to 6 mm on AP and mortise views (Figure 31-3). ™™ Grade 1: no widening of clear space ™™ Grade 2: clear space widened but less than 10 mm ™™ Grade 3: clear space 10 mm or wider



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Figure 31-3. Clear space between tibia and fibula. From Lutter LD, Mizel MS, Pfeffer GB, eds. Orthopaedic Knowledge Update: Foot and Ankle. Rosemont, IL: American Academy of Orthopaedic Surgeons; 1994:241–253. Reproduced with permission.

TREATMENT

•• Initial treatment includes RICE and weight bearing as tolerated. •• Ice should be applied for 15 to 20 minutes every 2 to 4 hours. •• Heat should be avoided. •• An air stirrup or lace-up ankle brace is preferred over a compression wrap because it also provides protection and support, which is helpful in promoting earlier weight bearing. •• Athletes with more severe sprains may require use of crutches or a walking boot until weight bearing is more comfortable. •• NSAIDs can facilitate treatment during the first 7 to 10 days after injury. ——They reduce pain and inflammation, which may shorten recovery time by allowing rehabilitation to progress more quickly. ——Studies also show they may increase early ligament strength. •• Prolonged immobilization weakens the ligaments, whereas early mobilization decreases adhesions and increases ligament strength. •• Rehabilitation to restore range of motion, flexibility, strength, and proprioception speeds recovery and should be initiated as early as tolerated by the athlete. EXPECTED OUTCOMES/PROGNOSIS

•• Lateral ankle sprains ——Average time to return to sports „„Grade

1: 8 days 2: 15 days „„Grade 3: 28 days „„Grade

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——After an initial sprain, the risk for reinjury is up to 5 times higher. ——An estimated 20% to 40% of athletes experience chronic instability. ——Very few require surgical stabilization. ——The most common reason for persistent pain is inadequate rehabilitation. ——Severe and repetitive ankle sprains increase the risk for osteoarthritis.

•• Medial ankle sprains ——Recovery takes twice as long as it does for lateral ankle sprains. •• Syndesmosis sprains ——Average time to return to sports is 6 weeks. ——Grade 3 injuries usually require surgical stabilization. ——Recurrent instability is less common than it is with lateral ankle sprains. ——Heterotopic ossification in the syndesmosis is a possible complication. WHEN TO REFER

•• To a sports medicine physician ——Lateral or medial ankle sprains that remain symptomatic despite a comprehensive rehabilitation program

•• To an orthopaedic surgeon who specializes in sports injuries ——Grade 2 and 3 syndesmosis sprains PREVENTION

•• Strategies proven to reduce the risk of recurrent ankle sprains ——A rehabilitation program that includes proprioception training ——A semirigid ankle brace during athletic activities RESOURCE FOR PHYSICIANS

•• Peterson AR, Moreno MA. Ankle Sprains in Youth. JAMA Pediatr.

2018;172(11):1108. https://jamanetwork.com/journals/jamapediatrics/ fullarticle/2703477

Acromioclavicular Joint Sprain INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Acromioclavicular (AC) joint sprain is also called a shoulder separation. •• This injury is rare before 13 years of age. •• Most are type I injuries involving only the AC ligament. •• Type II injuries involve the AC ligament and one of the coracoclavicular (CC) ligaments (Figure 31-4).

•• Type III injuries involve the AC ligament and both CC ligaments. •• The usual mechanism is a blow to the side or top of the shoulder or a fall directly onto the shoulder.

•• Shoulder separations usually occur in collision sports (eg, American tackle football, hockey).

•• This injury is 5 to 10 times more common in boys than in girls.



Chapter 31: Strains, Sprains, and Dislocations

Figure 31-4. Classification of acromioclavicular separations. Courtesy of Steve Oh. © 2021 KO Studios. Used with permission.

SIGNS AND SYMPTOMS

•• Pain and tenderness at the injured ligaments •• There may be slight swelling. •• For grade 2 and 3 sprains, the distal clavicle may be visibly elevated. •• Bruising is uncommon and usually indicates a fracture. •• Crossover test is positive ——Arm adduction across body causes pain •• Piano key sign is positive in grade 2 and 3 injuries. ——Ability to depress the distal end of clavicle DIFFERENTIAL DIAGNOSIS

•• Clavicle fracture •• Shoulder dislocation or subluxation DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is based on clinical and radiographic findings. •• Severity is graded by degree of displacement on radiographs. ——Ten-degree cephalad view of the AC joint (Zanca view) (Figure 31-5) ——Comparison is made to the uninjured side. ——Radiographs with and without weights are not needed to diagnose the injury.

291

292

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 31-5. Acromioclavicular (AC) separation (type II)—anteroposterior (AP) view. AP view of the left shoulder shows minimal displacement of the AC joint (black arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:178. Reproduced with permission.

TREATMENT

•• RICE •• NSAIDs •• A sling should be used for comfort. •• Rehabilitation is helpful if the arm has been immobilized for more than 5 to 7 days.

EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis for return to play for high-level sports, even throwing, is excellent with nonoperative treatment.

•• Average time to return to sports depends on injury severity. ——Grade 1: 3 days to 2 weeks ——Grade 2: 2 to 4 weeks ——Grade 3: 6 to 12 weeks •• Surgical stabilization is very rarely needed and is more appropriate for more

severe and rarer injuries, such as the grade 4 through 6 sprains (Figure 31-4).

•• There may be some discomfort at the joint for up to 6 months after the injury. •• In grade 2 and 3 sprains, the distal clavicle will remain visibly elevated. •• There is an increased risk of AC joint osteoarthritis. WHEN TO REFER

•• To an orthopaedic surgeon who specializes in sports injuries or shoulder surgery ——Significant displacement on radiographs ——Limited improvement with nonoperative treatment PREVENTION

•• Several taping techniques and braces are available, but there is no evidence that they reduce the risk for AC joint injury.



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Multidirectional Instability of the Shoulder INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Multidirectional instability (MDI) of the shoulder is defined as pain, subluxation,

or dislocation episode(s) caused by multidirectional (anterior, posterior, inferior) ligamentous laxity. •• MDI is an important risk factor for rotator cuff impingement or tendinopathy in adolescents (see Chapter 33, Overuse Injuries). •• This injury is equally common in boys and girls. •• It may be bilateral. •• Between 25% and 100% of cases also involve generalized ligamentous laxity (generalized joint hypermobility), either isolated or associated with a connective tissue disorder, such as Ehlers-Danlos syndrome. •• MDI can also result from repetitive microtrauma, such as with repetitive overhead arm motions in sports such as tennis, volleyball, swimming, and baseball. SIGNS AND SYMPTOMS

•• Patients may report one or all of the following symptoms: ——Shoulder pain ——Feelings of instability, popping, or shifting in the shoulder ——One or more episodes of subluxation or dislocation, often with minimal to no trauma, such as rolling over in bed or reaching forward or overhead

——Ability to voluntarily dislocate or subluxate the shoulder ——Radiating paresthesias are occasionally reported. ——Activities such as swimming, carrying bags, and overhand throwing may reproduce or aggravate symptoms.

•• Common physical examination findings ——Positive sulcus test (see Chapter 4, Physical Examination, Figure 4-16) indicating inferior laxity is the hallmark of MDI.

——Load-and-shift test (see Figure 4-15) is positive for anterior and posterior laxity

——There is often weakness with resisted testing of the rotator cuff muscles (see Figure 4-18).

——Scapular dyskinesis (asymmetrical scapular movement) may be prominent. ——Apprehension and relocation tests (see Figures 4-17 and 4-18) may be positive. ——There is often tenderness along the anterior shoulder, medial scapular border, and rhomboid and levator scapulae muscles.

——Beighton score (see Figure 4-2) may reveal generalized ligamentous laxity DIFFERENTIAL DIAGNOSIS

•• Other causes of shoulder pain and popping can be distinguished from MDI by

absence of multidirectional laxity on examination and of other features specific to the diagnosis (Table 31-2).

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Table 31-2. Causes of Shoulder Pain and Popping Distinguishable From Multidirectional Instability Cause

Differentiating Features

Traumatic shoulder dislocation/ subluxation

Usually caused by significant trauma

Glenoid labral tear

Can result from acute subluxation or dislocation or repetitive microtrauma

Laxity in only one direction, usually anterior, demonstrated by examination

Painful catching is common symptom MRI with arthrography can identify Rotator cuff impingement/ tendinopathy

May result from MDI Positive impingement signs on examination MRI can identify

Cervical spine disorders

Pain radiates from neck or is reproduced with neck ROM Spurling test may be positive

Abbreviations: MDI, multidirectional instability; MRI, magnetic resonance imaging; ROM, range of motion.

DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is established clinically. •• Neck examination should be performed to evaluate for possible cervical etiology. •• Radiographic findings in MDI are normal, but radiographs are indicated to evaluate for other pathology if any of the following is present: ——Pain persisting longer than 1 month ——Nighttime pain ——Acute trauma with limited range of motion ——History of multiple instability episodes •• Radiographic series for MDI should include an AP view in internal rotation, an axillary view, and a scapular Y-view. •• For patients who do not to respond to conservative treatment, MRI of the shoulder can allow evaluation for other causes, such as rotator cuff tendinopathy or labral pathology. •• MRI with arthrography is necessary to evaluate for a labral tear. TREATMENT

•• A physical therapy program focused on strengthening of the rotator cuff, deltoid,

and scapula-stabilizing muscles (ie, middle and lower trapezius, rhomboid, levator scapulae, serratus anterior) •• Advise patients to avoid activities that irritate the shoulder while undergoing rehabilitation to reduce symptoms more quickly and to facilitate recovery. •• Avoiding unnecessary stretching may reduce the sensation of instability. •• NSAIDs may be used in the early phase of treatment to control pain or if there is concomitant rotator cuff impingement or tendinopathy.



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EXPECTED OUTCOMES/PROGNOSIS

•• Most patients will experience a decrease in their symptoms with nonoperative management, but this may take 3 to 6 months.

•• Outcomes after surgery are not much better than they are with conservative

management; even though the ligaments can be tightened surgically, over time the collagen fibers eventually stretch out again and laxity returns. •• Surgery for comorbid conditions, such as a labral tear, is associated with better outcomes. WHEN TO REFER

•• For patients with unsatisfactory improvement in symptoms after 3 to 6 months

of conservative treatment and activity modification, refer to a sports medicine physician or orthopaedic surgeon who specializes in sports injuries or shoulder surgery. •• For patients with generalized ligamentous laxity who have signs or symptoms that suggest a connective tissue disorder (eg, extensible skin, poor wound healing, easy bruising, Marfan syndrome stigmata), referral to a geneticist who specializes in connective tissue disorders may be helpful. PREVENTION

•• Maintaining balanced strength in the rotator cuff and scapula-stabilizing muscles

can reduce the frequency of and morbidity from recurrent episodes of subluxation or dislocation. •• Shoulder-stabilizing braces are available (Figure 31-6). ——Because they significantly limit shoulder abduction and external rotation, they are not practical for use in most sports, except for American football (lineman position). ——The patient with subluxation or pain while sleeping may benefit from wearing a brace at night. Figure 31-6. Shoulder stabilizing brace. Courtesy DJO, LLC.

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Traumatic Shoulder Subluxation or Dislocation INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• About 20% of traumatic shoulder subluxations and dislocations occur in children, adolescents, and young adults between 10 and 20 years of age.

•• Less than 2% occur in children younger than 10 years. •• Ninety-five percent are anterior dislocations, tearing the anterior, inferior

glenohumeral ligaments ——Most are associated with a Bankart lesion (the detachment of the capsule from the anterior glenoid). ——Most occur in contact or collision sports. ——The usual mechanism of injury is a blow to an abducted and externally rotated shoulder. ——This injury less commonly results from a fall on an outstretched arm. •• Posterior dislocations ——Uncommon ——May occur in collision sports, such as hockey and American tackle football ——The usual mechanism of injury is posteriorly directed force to an arm that is adducted and internally rotated. ——Reported following seizures and electric shocks „„Mechanism is sudden vigorous contraction of internal rotators ——Often associated with MDI of the shoulder SIGNS AND SYMPTOMS

•• Patients report feeling that their shoulder popped out. •• There is pain at rest or with attempted movement of the arm. •• Physical examination findings if evaluation is performed before reduction include

the following: ——Visible deformity with prominent lateral acromion and loss of normal rounded contour of the deltoid ——With an anterior dislocation, the arm is held in a slightly externally rotated position. ——With a posterior dislocation, the arm is held in an internally rotated position. ——Up to 30% of patients experience temporary axillary nerve dysfunction, with numbness or paresthesias of the skin overlying the deltoid or deltoid weakness. •• Physical examination findings if evaluation is performed after reduction include the following: ——Range of motion may be limited for several weeks following the injury. ——Rotator cuff strength is often diminished secondary to pain (see Chapter 4, Physical Examination, Figure 4-18). ——Load-and-shift test reveals anterior or posterior laxity (see Figure 4-15). ——Apprehension test (see Figure 4-17) can be performed with the patient in the supine position or standing. „„Examiner abducts, then externally rotates the arm with gentle force placed on the posterior shoulder „„Test result is positive if the patient reports apprehension that the shoulder will dislocate



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——A relocation test (see Figure 4-18) result may also be positive. „„Test

is performed with patient in the supine position after eliciting a positive apprehension test result, the examiner applies gentle, posteriorly directed pressure on the anterior shoulder. „„Test result is positive if this maneuver relieves the patient’s apprehension „„Immediately

DIFFERENTIAL DIAGNOSIS

•• Shoulder subluxation ——If the spontaneous reduction happens quickly, a dislocation may be difficult to distinguish from a subluxation. Treatment is the same, but risk for recurrent instability may be lower after a subluxation. •• Scapular or humerus fracture ——Swelling and bruising ——Significant point tenderness ——Radiographic findings are positive. •• Rotator cuff tear ——Uncommon in adolescents ——Apprehension test is negative ——Rotator cuff weakness is significant. •• MDI ——Reported trauma is usually minimal. ——Positive sulcus sign ——Bilateral symptoms DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be established clinically, but prereduction radiographs may be obtained to determine the direction of dislocation and to evaluate for fracture.

•• Postreduction films should always be performed to confirm the humeral head is reduced and evaluate for associated fractures.

•• Radiographic findings after shoulder dislocation may include ——Hill-Sachs defect (Figure 31-7) „„Impaction

injury to the posterolateral humeral head in 38% to 90% of patients with an anterior dislocation „„If moderately sized, can contribute to recurrent instability ——Fractures of the greater tuberosity and glenoid rim, which are uncommon in pediatric patients (Figure 31-8) •• Radiographic series should consist of ——True AP view „„Normally with no overlap of the humerus and glenoid ——AP view with shoulder in internal rotation „„Best for identifying a Hill-Sachs defect ——Axillary and scapular Y-views „„To confirm humeral head is located in glenoid „„If axillary, may be difficult to obtain prereduction •• MRI is not necessary in the acute setting. •• MRI with arthrography is the preferred imaging study for surgical planning. „„Reported

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 31-7. Hill-Sachs lesion. Anteroposterior (AP) internal rotation radiographic view of the left shoulder shows a superolateral compression fracture, or Hill-Sachs lesion (arrow), which is characteristic of an anterior dislocation of the humeral head. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:200. Reproduced with permission.

Figure 31-8. Axillary radiograph shows erosion of the glenoid rim (arrows) associated with anterior glenohumeral instability. From Bigliani LU, ed. The Unstable Shoulder. Rosemont, IL: American Academy of Orthopaedic Surgeons; 1996:32. Reproduced with permission.

TREATMENT

•• Reduction may be performed immediately on-site by an athletic trainer or a physician experienced in shoulder dislocations.

•• In the emergency department setting, adequate sedation, analgesics, and muscle relaxants are advisable before performing reduction because muscle spasm and pain can make reduction difficult. •• Injection into the glenohumeral joint with lidocaine may facilitate a reduction without the use of sedation. •• Immobilize in a sling for comfort until motion improves, which typically takes 3 to 4 weeks. •• NSAIDs, analgesics, and ice are used as needed to control pain. •• Comprehensive physical therapy program ——Begin with gentle, passive range of motion exercises. ——Progress to strengthening the rotator cuff and scapula-stabilizing muscles. ——Usually takes 2 to 4 months for return to play. „„A shoulder-stabilizing brace (see Figure 31-6) should be used if practical for the patient’s sport or position.



Chapter 31: Strains, Sprains, and Dislocations „„The

299

patient must understand there is a significant risk of recurrence.

•• Indications for surgical stabilization ——Recurrent dislocations ——Some physicians advocate surgical stabilization after a first-time dislocation

for children and adolescents in high–physical contact sports, such as American tackle football, because the re-dislocation rate is so high.

EXPECTED OUTCOMES/PROGNOSIS

•• Recurrence rates after a first-time shoulder dislocation are between 80% and 85% in patients younger than 20 years.

•• More than 70% of first-time shoulder dislocations recur in the first 2 years after the initial event.

•• Recurrence rates are 10% to 20% after arthroscopic stabilization. WHEN TO REFER

•• All patients with a shoulder dislocation should be referred to a sports medicine physician or an orthopaedic surgeon who specializes in sports medicine or shoulder surgery to discuss treatment options.

PREVENTION

•• Maintaining balanced strength in the rotator cuff and scapula-stabilizing muscles may reduce the risk of recurrent subluxation or dislocation.

•• Shoulder-stabilizing braces (see Figure 31-6) may be helpful but are practical only for some sports and positions.

CHAPTER 32

Traumatic Muscle Injuries Muscle Contusions

•• Contusions are the second most common type of muscle injury, after muscle strain.

•• Contusions are caused by direct, non-penetrating blows to a muscle belly, which leads to bleeding in the muscle and hematoma formation.

•• Most common locations are the quadriceps (anterior or lateral thigh) and brachialis (upper arm).

•• They occur most frequently in contact and/or collision sports such as American tackle football, rugby, soccer, and martial arts.

•• Almost all resolve with rest, ice, compression, and elevation (RICE) in combination with rehabilitation exercises.

Quadriceps Contusion INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Quadriceps are the most common location for muscle contusion. •• A blunt contact of a knee to the thigh is the most common mechanism of injury. SIGNS AND SYMPTOMS

•• Pain and swelling in the anterior or lateral thigh is worse with movement; bruising may be visible.

•• The patient may report knee stiffness and difficulty bearing weight. •• Physical examination findings include tenderness, edema, ecchymosis, weakness, and pain with passive stretch of the quadriceps muscle.

•• A palpable mass may be present if the intramuscular hematoma is substantial. •• Active straight-leg raise will be painful and may be impossible for the patient to perform.

•• One grading system for contusion severity is based on the degree of active knee flexion post-injury. ——Mild: active knee flexion greater than 90 degrees ——Moderate: active knee flexion between 45 and 90 degrees ——Severe: active knee flexion less than 45 degrees

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DIFFERENTIAL DIAGNOSIS

•• Quadriceps strain •• Femur fracture •• Morel-Lavallee lesion •• Bony or soft tissue tumor •• Hip pointer DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be determined clinically. •• If the history is unclear or atypical, imaging may be helpful. •• Radiographic findings are normal in the setting of an acute muscle contusion. •• Ultrasonography may be used to measure hematoma size to help determine if surgical evacuation should be considered in a high-level athlete.

•• Magnetic resonance imaging (MRI) can provide detailed characterization of the lesion. ——MRI is typically ordered when there is concern for higher level muscle tear, consideration of surgical treatment, or prolonged failure of conservative treatment. ——MRI is especially helpful in identifying small hematomas deep within the muscle belly, when ultrasonography is inconclusive.

TREATMENT

•• RICE •• Immobilization of the knee in maximal tolerable flexion (see Figure 32-1) for

the first 24 to 48 hours after diagnosis facilitates healing, reduces the risk of complications by limiting the size of hematoma formation, and results in faster return to sports and activities. •• After 24 to 48 hours, active quadriceps stretching and isometric strengthening should begin in a pain-free range, while continuing the use of a compression wrap around the thigh only (without the knee included in flexion). •• Crutches should be used until there is at least 90 degrees of knee flexion and no limp. •• The athlete may return to play when knee flexion is full and pain-free and quadriceps size and strength are equal to the uninjured side. •• Athletes should wear a modified thigh pad to prevent reinjury. EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent if treatment is begun promptly. •• In general, disability ranges from less than 2 weeks for mild contusions to greater than 3 weeks for severe contusions.

•• In one study, following the protocol of immediate immobilization in knee flexion, the average time to return to play was 3.5 days, compared with 18 days when immobilization was delayed and 47 days when the thigh was wrapped with the knee in extension.



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Figure 32-1. Immobilization of the knee immediately after quadriceps contusion. Reproduced from LaPrade RF, Wijdicks CA, Griffith CJ. Division I intercollegiate ice hockey team coverage. Br J Sports Med. 2009;43(13):1000–1005. © 2009, with permission from BMJ Publishing Group Ltd.

Figure 32-2. Radiograph of the femur showing myositis ossificans in the quadriceps (arrow).

•• Complications are more likely when treatment is delayed. ——Myositis ossificans, a benign proliferation of bone and cartilage at the site of

the hematoma, is the most common complication (Figures 32-2 and 32-3). should be suspected if a patient is not improving after 4 to 5 days of treatment or if symptoms, especially knee flexion, worsen 2 to 3 weeks after initial injury.

„„It

304

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 32-3. Myositis ossificans. Computed tomography scan showing well-circumscribed mass with a sharply marginalized ossified rim (white arrow) and a central lucent area (black arrow). Note that there is no connection to the femur (arrowhead). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:49. Reproduced with permission.

„„It

can be detected on radiographs within 3 to 6 weeks after initial injury. ossificans may delay rehabilitation and return to play for up to 1 year. „„If symptomatic, the lesion may be excised once it shows decreased activity on a bone scan (6–12 months). ——Acute compartment syndrome of the quadriceps compartment caused by large hematoma occurs less frequently (see Chapter 48, Compartment Syndrome). ——Nerve palsy can result when the hematoma compresses a nerve, or, rarely, if the nerve itself is damaged from the initial impact. „„Myositis

PREVENTION

•• Wearing thigh pads during contact sports will help protect from injury, but

thigh pads are not currently commonplace in activities such as rugby and martial arts. •• Early immobilization in flexion may decrease the risk and/or severity of myositis ossificans. •• While selective COX-2 inhibitors and indomethacin have been shown to protect against heterotopic ossification following total hip arthroplasty, they have not been studied for preventing myositis ossificans after quadriceps contusions. WHEN TO REFER

•• Severe swelling, progressive pain, or numbness and/or weakness warrants

immediate referral to an emergency department for evaluation, which may include compartment pressure testing, and possible decompression surgery. •• Refer to a pediatric orthopaedic specialist ——In the case of a large hematoma, when surgical evacuation may be considered ——If functional improvement is not dramatic once treatment is initiated ——If complications such as myositis ossificans develop



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Hip Pointer INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A hip pointer is an iliac crest contusion that results in a subperiosteal hematoma. •• It is caused by a direct blow or fall onto the hip. •• It most commonly occurs in American tackle football. SIGNS AND SYMPTOMS

•• Pain and swelling over the iliac crest •• Point tenderness, ecchymosis, and muscle spasm •• Pain with contraction of abdominal muscles DIFFERENTIAL DIAGNOSIS

•• Hip fracture •• Avulsion fracture •• Iliac crest apophysitis •• Muscle contusion •• Muscle strain DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is determined clinically, but radiographs should be obtained to rule out a fracture or avulsion.

TREATMENT

•• Rest, with the hip in a position of comfort •• Crutches should be used until the patient achieves pain-free ambulation. •• Reduce pain and swelling with ice, nonsteroidal anti-inflammatory drugs, and

compression with an elastic bandage or compression shorts. •• Rehabilitation exercises should be done for stretching and strengthening of core muscles. •• Injection of local anesthetic may be considered in the highly competitive or professional adult athlete. This strategy is sometimes used as a one-time intervention to allow for participation in a championship level event, but it carries important risks (loss of sensory feedback from the affected area, which may lead to further injury during the competition). It does not facilitate healing or shorten ultimate recovery time. •• Return to play is possible once there is no pain with jogging or activation of abdominal muscles. The return to play process should start with light activity and gradually progress in stepwise fashion to sport-specific motions and eventually full activity as long as the patient is pain-free.

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EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent; most patients can return to their previous level of sports participation within days to weeks, depending on the severity of the contusion.

•• Hematoma formation can lead to compression of the lateral femoral cutaneous nerve (meralgia paresthetica), which is the main potential complication.

PREVENTION

•• For return to contact sports, a hip pad should be worn to protect the area. WHEN TO REFER

•• Refer to a pediatric sports medicine physician or pediatric orthopaedic surgeon ——For any concern for complication, including hip fracture or avulsion injury ——For symptoms of meralgia paresthetica, such as a burning, tingling, or stabbing sensation in the anterolateral thigh

——If pain or weakness persists beyond 6 weeks despite appropriate treatment, or inability to return to sport

Pelvic Avulsion Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The pelvis has several apophyses (ossification centers) that are vulnerable to injury during adolescence (Figure 32-4).

•• Pelvic avulsion fractures occur when a forceful muscle contraction or

elongation causes separation of the apophysis from the pelvic bone (Figures 32-5–32-8).

Figure 32-4. Apophyses of the pelvis. Abbreviations: AIIS, anterior inferior iliac spine; ASIS, anterior superior iliac spine. Courtesy of Vita Lerman, Lurie Children’s Hospital.



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Figure 32-5. Avulsion fracture of the anterior inferior iliac spine (arrow).

Figure 32-6. Avulsion fracture of the anterior superior iliac spine (arrow).

Figure 32-7. Iliac crest avulsion fracture (arrow).

Figure 32-8. Ischial tuberosity avulsion fracture (arrow).

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•• The most common mechanisms of injury are sprinting, kicking, or performing leaps or splits in gymnastics or cheerleading.

•• Less often, there is gradual onset of pain when the fracture results from repetitive loading during these activities over time.

•• The most common locations are the ischial tuberosity (Figure 32-8), anterior

superior iliac spine (ASIS) (Figure 32-6), and anterior inferior iliac spine (AIIS) (Figure 32-5), but avulsions can also occur at the lesser trochanter, iliac crest (Figure 32-7), and pubic symphysis. •• Eighty percent are sports related, and 70% to 90% occur in boys. •• Peak incidence is between 14 and 18 years of age. ——During adolescence, the pelvic apophyses are weaker than the attached musculotendinous units, so a forceful contraction is more likely to cause an avulsion fracture than a muscle strain in this age group. ——Ischial tuberosity avulsions occur at an average age of 19 years because of the later age of formation of this apophysis. SIGNS AND SYMPTOMS

•• Patients typically report a sudden, painful pop in the anterior or lateral hip or buttocks.

•• Weight-bearing is painful. •• Local swelling and ecchymosis may be noted. •• The injured apophysis will be tender, but the attached muscle is usually non-tender. •• There will be pain with active contraction or passive stretch of the attached muscle and often decreased flexibility and strength.

DIFFERENTIAL DIAGNOSIS

•• Muscle strain •• Pelvic apophysitis (overuse injury to the apophysis, similar to Osgood-Schlatter disease and Sever disease; see Chapter 33, Overuse Injuries)

•• Bony or soft tissue tumor •• Hip pointer

DIAGNOSTIC CONSIDERATIONS

•• Radiographs are required for diagnosis and will reveal a displaced bony fragment at the involved site. ——Anteroposterior view of the pelvis will show most avulsions (see Figures 32-5–32-8). ——Oblique (Judet) view of the pelvis allows better visualization of the AIIS and ASIS, may be helpful for diagnosing these avulsions, and may allow comparison with the appearance of the non-injured side.

TREATMENT

•• Most patients with pelvic avulsion fractures recover fully with nonoperative

treatment and are able to return to previous level of sports activity, even when bony nonunion persists on radiographs.



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•• During the initial post-injury period, the young athlete should use ice and should

remain non-weight bearing on crutches until ambulation is no longer painful, which usually takes 2 to 4 weeks. •• Heat, massage, and vigorous stretching should be avoided during this period. •• Once weight bearing is no longer painful, rehabilitation may begin, concentrating on gentle flexibility exercises initially and strengthening later. •• Once there is full, pain-free range of motion and near-normal strength, the athlete may start a gradual, stepwise return to sporting activities, starting with jogging, then running, then sport-specific drills, before full return to play. •• Repeat radiographs are not usually necessary unless symptoms persist beyond the expected healing time. EXPECTED OUTCOMES/PROGNOSIS

•• Time to return to sports varies depending on the site and severity of injury. ——ASIS, AIIS, and iliac crest: 6 to 8 weeks. ——Ischial tuberosity and pubic symphysis: 2 to 4 months. •• Premature return to activities can result in reinjury and prolonged recovery. •• Chronic pain and nonunion are possible complications, especially in cases of delayed or inadequate treatment.

•• Acute-onset meralgia paresthetica has been reported with ASIS avulsions. •• AIIS avulsions can also result in hip impingement and chronic hip pain. •• Ischial tuberosity fractures can cause pain with sitting that persists for months to years as well as limitations with sports activity (eg, patient can tolerate a fast run without pain but not necessarily sprinting).

PREVENTION

•• Adolescent athletes should be counseled to seek medical care for any lingering muscle strain of the hip or thigh, so an evaluation for apophysitis or previously unrecognized or occult avulsion fracture can be performed.

WHEN TO REFER

•• Refer to a pediatric orthopaedic surgeon or pediatric sports medicine physician

for diagnosis and management, especially if the following situations are present: ——For avulsions with more than 2 cm of separation ——If assistance is needed for supervision of rehabilitation or clearance to return to play ——For persistent pain beyond expected time for recovery and inability to resume prior level of sports participation ——For chronic, symptomatic nonunion

CHAPTER 33

Overuse Injuries •• Overuse injuries occur when an anatomic structure is subjected to repetitive

stress, force, or trauma without adequate rest to allow for the structure to heal.

•• Young athletes may sustain overuse injuries to bones, growth centers, tendons, muscles, and fascia.

•• Training errors are the most common contributing factor causing these injuries.

These include rapid increases in training loads, insufficient rest time in between training sessions, and long-term, high-level repetitive training, often associated with early sport specialization. •• Other contributing factors include preexisting deconditioning, suboptimal equipment, poor training surfaces or sudden change in training surface, improper technique, imbalances in muscle strength or flexibility, and variants of normal anatomic alignment such as pes planus or pes cavus. •• Overuse injuries involving the growth plates (physes and apophyses) are unique to children and adolescents. ——Unlike bone and tendon, which are composed of a strong extracellular matrix designed to withstand compressive and tensile loads, growth plates are composed mainly of cartilage cells and have less resistance to stress. ——Injuries to the apophyses are most common. These areas of secondary ossification, where muscle-tendon units attach to bone, are the weakest point in the immature biomechanical chain.

Little League Shoulder INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Many terms have been used to describe the injury colloquially termed “Little

League shoulder,” including osteochondrosis, epiphysiolysis, rotation stress fracture, and Salter-Harris I injury to the proximal humeral epiphysis. •• The injury results from repetitive overhead activity, causing microtrauma to the proximal humeral physeal plate. •• It can occur in any sport with repetitive overhead activity, including baseball, swimming, tennis, and volleyball. •• It is most common in high-level pitchers between 11 and 16 years of age.

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SIGNS AND SYMPTOMS

•• Shoulder pain with insidious onset, exacerbated by throwing or other overhead athletic activity

•• Loss of throwing velocity or accuracy; or loss of strength in other overhead activities

•• Tenderness with palpation of the proximal lateral humerus •• May have painful or decreased shoulder range of motion •• Usually have pain with resisted shoulder elevation or external rotation DIFFERENTIAL DIAGNOSIS

•• Rotator cuff tendinitis, impingement, or subacromial bursitis •• Proximal humeral fracture •• Biceps tendinitis •• Multidirectional shoulder instability •• Labral tear, including superior labral tear from anterior to posterior (SLAP) lesion

•• Bone tumor DIAGNOSTIC CONSIDERATIONS

•• Diagnosis may be determined clinically. •• Radiographs (anteroposterior [AP] views in internal and external rotation, and

a scapular Y-view) often show normal findings early in the course but may show classic finding of widening of the proximal humeral epiphysis when compared with the opposite shoulder (Figure 33-1). There may also be fragmentation, sclerosis, or demineralization of the epiphysis or metaphysis. •• Magnetic resonance imaging (MRI) is not usually indicated unless there is suspicion for alternative pathology. In Little League shoulder, MRI will demonstrate periphyseal edema and physeal widening. Figure 33-1. Anteroposterior views of both shoulders showing widening of the proximal humeral physis (arrow) on the right (A), consistent with Little League shoulder (proximal humeral epiphysitis). Courtesy of Mary Wyers, MD, Ann & Robert H. Lurie Children’s Hospital of Chicago.



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TREATMENT

•• Rest from throwing and other overhead activities is necessary to allow the physis to heal.

•• Nonsteroidal anti-inflammatory drugs (NSAIDs) do not speed the healing

process; rest from repetitive activity should be the primary treatment for pain relief. •• Begin range of motion and strengthening exercises when they can be performed without pain. •• Once the athlete has full pain-free range of motion and strength, return to sport begins. Throwing athletes will begin with light tosses over a short distance and progress gradually over 4 to 6 weeks to maximum effort pitching from regulation distance. EXPECTED OUTCOMES/PROGNOSIS

•• The average time from initial diagnosis to return to competitive activity is 3 months.

•• Because this is a growth plate injury, symptoms resolve with skeletal maturity. •• Athletes who do not seek medical attention early in the course of their injury may be forced to stop overhead activity because of pain and impaired performance.

•• Rare potential complications include physeal arrest and arm length asymmetry. WHEN TO REFER

•• Refer to a pediatric sports medicine specialist ——Pain that persists despite 4 to 6 weeks of rest from overhead activities ——Pain at rest, instability, or significant weakness PREVENTION

•• Pitchers should be advised to follow published guidelines for pitch

count maximums and number of rest days between pitching appearances (Table 33-1). •• Breaking pitches (eg, curveballs, sliders) and poor throwing mechanics may contribute to overuse injuries such as Little League shoulder, although causation has not been proven. •• Children and adolescents should not throw competitively for more than 9 months out of the year. •• Additional age-appropriate guidelines for injury prevention in youth baseball can be found at https://www.mlb.com/pitch-smart/pitching-guidelines. Throwing mechanics should be reviewed by a knowledgeable pitching coach. •• Cardiovascular fitness and core strength should be maintained year-round. •• Pitchers who throw through pain or fatigue have higher rates of injury and surgery. Children in sports involving repetitive overhead activity should be encouraged to report any discomfort in the upper extremity immediately. Such reports should be promptly evaluated.

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Table 33-1. Pitch Count Limits and Required Rest Recommendations Daily Max (Pitches in Game)

0 Days Rest

1 Days Rest

2 Days Rest

7-8

50

1–20

21–35

9-10

75

1–20

21–35

11-12

85

1–20

13-14

95

1–20

15-16

95

17-18

105

19-22

120

Age (y)

3 Days Rest

4 Days Rest

5 Days Rest

36–50

N/A

N/A

N/A

36–50

51–65

66+

N/A

21–35

36–50

51–65

66+

N/A

21–35

36–50

51–65

66+

N/A

1–30

31–45

46–60

61–75

76+

N/A

1–30

31–45

46–60

61–80

81+

N/A

1–30

31–45

46–60

61–80

81–105

106+

Abbreviations: Max, maximum; N/A, not applicable. From Major League Baseball. Guidelines for Youth and Adolescent Pitchers. Available at: https://www.mlb.com/ pitch-smart/pitching-guidelines. Accessed April 3, 2020. Major League Baseball trademarks and copyrights are used with permission of Major League Baseball. Visit MLB.com.

Rotator Cuff Tendinitis/Impingement INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Inflammation and thickening of rotator cuff tendons or subacromial bursa cause impingement under the coracoacromial arch when the arm is elevated.

•• This injury commonly occurs in overhead sports such as tennis, baseball, softball, volleyball, and swimming.

•• In younger athletes, rotator cuff tendinitis or impingement is usually caused by

shoulder ligamentous laxity or muscle imbalance, rather than narrowing of the subacromial space seen in adults. •• Additional etiologic factors include improper throwing technique and excessive pitching, oversized tennis rackets, and use of hand paddles and drag suits by swimmers. •• Tears of the rotator cuff due to overuse are rare in pediatric and adolescent athletes. SIGNS AND SYMPTOMS

•• Pain with overhead activity that does not improve with warm-up •• May progress to pain with activities of daily living, pain at rest, or nighttime pain •• Patients may report diminished strength with overhead activities. •• Tenderness with palpation of the rotator cuff tendons in the subacromial space •• Shoulder range of motion, especially elevation, may be limited and strength may be diminished.

•• Resisted strength testing of individual rotator cuff muscles may reproduce symptoms. •• Neer or Hawkins impingement tests may be positive (see Chapter 4, Physical Examination, Figure 4-19).



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DIFFERENTIAL DIAGNOSIS

•• Little League shoulder •• Biceps tendinitis •• Glenohumeral instability •• Acromioclavicular sprain •• Proximal humeral fracture •• Labral tear, including SLAP lesion •• Thoracic outlet syndrome DIAGNOSTIC CONSIDERATIONS

•• Diagnosis may be determined clinically. Imaging is usually not necessary. •• When the diagnosis is uncertain, radiographs may be helpful to rule out bony

injury such as Little League shoulder, and they may be helpful in identifying predisposing anatomy such as type II or III acromion that narrows the subacromial space. •• MRI or in-office ultrasonography may be useful in cases refractory to conservative management or if there is concern for other injuries. ——In most cases of rotator cuff tendinitis or impingement, MRI and ultrasonography demonstrate fluid, inflammation, or thickening of the rotator cuff tendons or subacromial bursa. •• If there is concern for a labral tear, MRI with arthrography is the diagnostic study of choice. TREATMENT

•• Athletes should temporarily rest from overhead activities until they can perform them without pain.

•• NSAIDs can reduce inflammation and may be used for pain with activities of daily living or at rest.

•• The most important aspect of treatment is a physical therapy program to correct muscle imbalance. A comprehensive program focusing on range of motion, rotator cuff and core strengthening, and periscapular stabilization should be initiated as soon as possible. •• Sport-specific technique and equipment should be evaluated. •• Surgical intervention is rarely needed in the pediatric and adolescent athlete. In cases unresponsive to nonoperative management, shoulder arthroscopy may be helpful for identification of additional pathology or débridement of chronically inflamed and injured rotator cuff tendons. EXPECTED OUTCOMES/PROGNOSIS

•• Response to nonoperative management is usually excellent, resulting in return to full participation in previous activities.

•• Return to sports depends on the severity of symptoms, ranging from 2 to 4 weeks to 4 to 6 months.

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•• Symptoms can progress if the underlying muscle imbalance and joint instability are not addressed. This may ultimately lead to inability to participate in the inciting activity. •• If biomechanical or equipment issues are not addressed, or if proper muscular balance is not maintained, symptoms may recur. WHEN TO REFER

•• Refer to a pediatric sports medicine specialist when there has been no improvement after 6 to 8 weeks of rest and physical therapy.

PREVENTION

•• Pitchers should follow published guidelines for pitch count maximums and number of rest days between pitching appearances (see Table 33-1).

•• Children and adolescents should not throw competitively for more than 9 months out of the year.

•• Additional age-appropriate guidelines for injury prevention in youth baseball can be found at https://www.mlb.com/pitch-smart/pitching-guidelines.

•• All overhead athletes should be encouraged to pay close attention to correct

technique. Throwing mechanics should be reviewed by a knowledgeable coach.

•• Cardiovascular fitness and core strength should be maintained year-round. •• Specific strengthening programs exist for pitchers that focus on scapular stabilization (eg, Thrower’s Ten Program).

•• Initiating a preventive rotator cuff strengthening program may be useful in at-risk athletes.

•• Continuing a rotator cuff maintenance program after recovery can help prevent recurrent episodes.

•• Children in sports involving repetitive overhead activity should be encouraged to

report any discomfort in the upper extremity immediately. Such reports should be promptly evaluated.

Little League Elbow INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Apophysitis of medial epicondyle caused by repetitive valgus force at the elbow

that occurs with the pitching motion is termed “Little League elbow.” The valgus force causes tension forces on the medial side of the elbow and compression forces on the lateral side. •• Little League elbow is the most common cause of medial elbow pain in young pitchers. •• While classic Little League elbow refers to an apophysitis of the medial epicondylar growth plate, the term is sometimes used more broadly to describe a constellation of overuse pitching injuries in the immature elbow, including medial epicondyle apophysitis, flexor-pronator muscle strain, and olecranon apophysitis. •• Annual incidence of elbow pain in baseball pitchers between 8 and 12 years of age has been reported to be 20% to 30%.



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•• Young athletes other than pitchers can be at risk for medial epicondyle

apophysitis, including American tackle football quarterbacks, non-pitching baseball players, gymnasts, and tennis players.

SIGNS AND SYMPTOMS

•• Medial elbow pain during or after pitching or other throwing or overhead activity

•• May have stiffness, swelling, limited elbow extension, and, occasionally, mechanical symptoms such as locking and popping

•• Impaired performance, including loss of pitching accuracy and reduced velocity, may be reported.

•• Patients have localized tenderness over the medial epicondyle (Figure 33-2; see also Chapter 4, Physical Examination, Figure 4-22a).

•• Medial elbow swelling or effusion may be present. DIFFERENTIAL DIAGNOSIS

•• Medial epicondyle avulsion fracture •• Flexor-pronator tendinitis •• Ulnar collateral ligament sprain or tear •• Ulnar nerve injury or entrapment, ulnar neuritis •• Neoplasm •• Referred pain from the neck or shoulder DIAGNOSTIC CONSIDERATIONS

•• Diagnosis may be determined clinically. •• Radiographs are often negative in the early stages of injury. ——AP, lateral, and oblique views of both elbows should be obtained for comparison.

Figure 33-2. Palpation of the medial epicondyle. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 33-3. Anteroposterior radiograph of the elbow showing widening at the medial epicondylar apophysis (arrow). In this case, radiographic findings indicate that the problem is more advanced. Most patients with medial epicondyle apophysitis will have normal radiographic findings. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

——Positive findings may include medial epicondyle physeal widening, enlargement, fragmentation, or avulsion of the medial epicondyle (Figure 33-3).

•• MRI or ultrasonography may be helpful to evaluate for other conditions, such as osteochondritis dissecans of the capitellum (typically visible on radiographs, but MRI helpful to evaluate severity), ulnar collateral ligament injury, and flexorpronator tendinitis.

TREATMENT

•• Initial treatment includes complete rest from throwing until pain and tenderness resolve (usually 4–6 weeks).

•• Ice and NSAIDs are rarely needed because pain typically occurs only with

throwing or overhead activity, but they may be helpful if swelling is present.

•• As symptoms improve, a physical therapy rehabilitation program is initiated,

beginning with stretching and range of motion exercises followed by progressive strengthening of upper body and core muscles. •• Once the athlete has no tenderness and full, pain-free range of motion and strength, return to throwing begins with light tosses over a short distance and progresses gradually over 4 to 6 weeks to maximum effort pitching from regulation distance. •• The athlete should work with an experienced coach to evaluate and correct any underlying errors in throwing or pitching technique. EXPECTED OUTCOMES/PROGNOSIS

•• If treated properly early in the course, most athletes can return to pitching. •• The average time from initial diagnosis to return to competitive activity is 8 to 12 weeks.



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•• Some may not be able to return to their previous level of play, even with timely, proper treatment.

•• Athletes who continue to throw with pain and disregard recommendations for

treatment are at risk for long-term, possibly permanent, sequelae. ——Complications may include growth disturbance around the elbow; joint stiffness, including flexion contracture; chronic, progressive medial elbow pain; bony deformity, including premature elbow arthrosis; and acute displacement of apophysis that may lead to nonunion requiring surgery.

WHEN TO REFER

•• Refer to a pediatric sports medicine specialist if ——There is no improvement in symptoms after 6 to 8 weeks of rest ——Guidance is needed for supervision of physical therapy or clearance for return to throwing

•• Refer to a pediatric orthopaedic surgeon for ——Widening or displacement of the medial epicondyle apophysis of more than 5

mm, which may require surgical fixation (see Chapter 44, Common Fractures of the Upper Extremities, Figure 44-6)

PREVENTION

•• Pitchers should be advised to follow published guidelines for pitch count

maximums and number of rest days between pitching appearances (see Table 33-1). •• Children and adolescents should not throw competitively for more than 9 months a year. •• All overhead athletes should be encouraged to pay close attention to correct technique. Throwing mechanics should be reviewed by a knowledgeable coach. •• Cardiovascular fitness and core strength should be maintained year-round. •• Children in sports involving repetitive overhead activity should be encouraged to report any discomfort in the upper extremity immediately. Such reports should be promptly evaluated.

Osgood-Schlatter Disease INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Osgood-Schlatter disease (OSD) is an apophysitis, or osteochondrosis, of the tibial tuberosity caused by repetitive, forceful contraction of the quadriceps muscle.

•• Onset is usually associated with a period of rapid growth combined with activity. •• The disease usually affects boys between 10 and 15 years of age and girls between 8 and 13 years of age.

•• Although the incidence has been higher among boys, incidence in girls has increased with increased participation in organized, year-round sports.

•• It occurs bilaterally in 25% to 50% of patients. •• It is most commonly seen in running and jumping sports, such as basketball, soccer, and gymnastics.

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•• Intrinsic risk factors include tight quadriceps (see Chapter 4, Physical

Examination, Figure 4-6), tight hamstrings (Figure 4-5), patella alta, and external tibial rotation (see Chapter 25, Out-toeing), which increase the traction forces on the tibial tubercle from the patellar tendon.

SIGNS AND SYMPTOMS

•• Pain at the tibial tubercle that is worse with activity and improves with rest. •• Onset of symptoms is usually gradual but can sometimes be triggered or worsened by an acute event, such as a sprint, jump, or direct impact to the tubercle.

•• Localized tenderness over the tibial tuberosity (Figure 33-4; see also Chapter 4, Physical Examination, Figure 4-28a)

•• Bony prominence and soft tissue swelling may be present. •• Resisted knee extension is typically painful. •• Tight quadriceps and hamstrings, external tibial rotation, or patella alta may be noted. •• The patient may have pain with active straight-leg raise test. Inability to perform active straight-leg raise, or inability to maintain a straight leg during this test, suggests a disruption of the extensor mechanism, such as a tibial tubercle avulsion fracture or patellar tendon rupture.

DIFFERENTIAL DIAGNOSIS

•• Tenderness over the tibial tuberosity with an otherwise normal knee examination will usually rule out other causes of knee pain. ——Patellofemoral pain syndrome ——Sinding-Larsen–Johansson syndrome ——Patellar tendinitis ——Prepatellar or infrapatellar bursitis ——Stress fracture of the proximal tibia ——Osteochondritis dissecans

Figure 33-4. Palpation of tibial tuberosity.



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——Referred pain from the hip ——Bony neoplasm or infection DIAGNOSTIC CONSIDERATIONS

•• Diagnosis can be determined clinically; imaging is not usually necessary. •• Radiography ——Indicated to rule out other pathology in patients with atypical signs and symptoms or those who do not respond to usual treatment

——Most patients with OSD will have normal radiographic findings. ——Elevation, irregularity, and fragmentation of the tibial tubercle apophysis are

normal variants of ossification and do not indicate abnormal pathology or OSD. ——Soft tissue swelling anterior to the tibial tubercle is suggestive of OSD (Figure 33-5). •• MRI is not necessary unless another diagnosis is suspected. TREATMENT

•• While some level of activity modification may be helpful initially (resting from painful activities), complete cessation of activity is not usually required.

•• Activity that causes significant pain or altered gait should be avoided. Discomfort occurring after activity should not preclude participation.

•• A patellar strap (Figure 33-6) may reduce pain with activity. •• Anti-inflammatory medications should not be used before activity because they may mask pain and contribute to worsening injury.

•• A protective pad over the tibial tuberosity can protect against direct trauma. Figure 33-5. Lateral view of the knee showing Osgood-Schlatter disease with soft tissue swelling overlying the tibial apophysis (arrow) and widening of the apophysis. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 33-6. Patellar strap. Placed over patellar tendon, in between patella and tibial tubercle. Courtesy of DJO, LLC.

•• Ice can help reduce pain (apply for 15–20 minutes, 2 or 3 times a day, not immediately before activity).

•• Quadriceps and hamstring stretching can reduce tension at the tibial tubercle. EXPECTED OUTCOMES/PROGNOSIS

•• Symptoms generally resolve over time, before or concurrent with closure of the tibial tubercle apophysis.

•• Many will have residual prominence of the tubercle into adulthood. •• Occasionally, pain persists following closure of the apophysis. •• Persistent discomfort with kneeling into adulthood may indicate the presence of a residual ossicle(s), which occasionally may need surgical removal.

•• Rarely, chronic OSD can weaken the apophysis, making it more vulnerable to an acute avulsion fracture with forceful quadriceps contraction.

•• Genu recurvatum (tibial forward curvature resulting in hyperextension of the

knee) has been noted as a rare but serious complication of OSD, resulting from premature closure of the anterior portion of the proximal tibial epiphyseal plate.

WHEN TO REFER

•• Refer to a pediatric sports medicine specialist ——If there is no improvement after several weeks of rest and nonoperative treatment



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•• Refer to a pediatric orthopaedic specialist ——If there is concern for tibial tubercle avulsion (unable to perform a straightleg raise or significant widening or displacement of tubercle on lateral radiographs).

PREVENTION

•• Maintain quadriceps strength and flexibility, particularly during periods of rapid growth.

•• Do not push through pain with activity.

Sinding-Larsen–Johansson Syndrome INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Sinding-Larsen–Johansson syndrome is an apophysitis of the inferior pole of the patella caused by repetitive traction from the patellar tendon.

•• In skeletally mature athletes, this same mechanism (traction through the extensor mechanism) leads to patellar tendinitis (jumper’s knee).

•• The syndrome affects children 8 to 13 years of age, with an average age of 12 years in boys and 9 years in girls.

•• Patients are usually involved in athletic activities involving running, jumping, or kicking.

•• Symptoms usually develop insidiously but can also follow an episode of acute trauma, such as a fall onto the knee or a kick or jump that causes a sudden increase in symptoms. •• Affected children are usually in a period of rapid growth, resulting in tight quadriceps. SIGNS AND SYMPTOMS

•• Anterior knee pain localized to the inferior pole of the patella that worsens during activities such as running, jumping, and climbing stairs

•• Localized tenderness at the inferior pole of the patella ——With the knee relaxed in full extension, apply gentle downward pressure to

the superior pole of the patella to elevate the inferior pole, allowing for direct palpation of the apophysis. •• Patients may have a positive Ely test, indicating tight rectus femoris (see Chapter 4, Physical Examination, Figure 4-6). DIFFERENTIAL DIAGNOSIS

•• Patellofemoral pain syndrome •• OSD •• Patellar fracture or patellar sleeve fracture •• Osteochondritis dissecans •• Patellar tendinitis •• Stress fracture

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Figure 33-7. Anteroposterior (A) and lateral (B) views of the knee showing widening and separation at the distal patella apophysis consistent with Sindig-Larsen–Johansson syndrome. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis can be determined clinically; imaging is not necessary. •• Radiography ——May be helpful to evaluate for other causes of anterior knee pain in patients with chronic, recurrent, or unusual symptoms.

——Most patients with Sinding-Larsen–Johansson syndrome will have normal

radiographic findings, but some may demonstrate fragmentation, calcification, or a small avulsion of the inferior pole of the patella (Figure 33-7).

TREATMENT AND PREVENTION

•• Treatment and prevention are the same as for OSD. EXPECTED OUTCOMES/PROGNOSIS

•• Symptoms resolve over time, before or concurrent with closure of the apophysis.

•• Prognosis is excellent, without residual symptoms or sequelae.



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WHEN TO REFER

•• Refer to a pediatric sports medicine specialist if no improvement is seen after several weeks of rest and conservative treatment

•• Refer to a pediatric orthopaedic specialist for removal of symptomatic fragments, if present; this may be helpful in chronic cases.

Sever Disease INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Sever disease is an apophysitis caused by repetitive traction from the Achilles tendon and/or repetitive impact on the heel.

•• It affects children between 7 and 15 years of age, at an average age of 12 years for boys and 9 years for girls.

•• It is more common in boys. •• Disease is bilateral in slightly more than 60% of patients. •• It typically occurs in running or jumping sports such as soccer, basketball, and gymnastics.

SIGNS AND SYMPTOMS

•• Activity-related heel pain that is worse on hard surfaces, in bare feet, or in shoes with cleats

•• Onset is usually insidious, but it may also be triggered by acute trauma. •• May cause a limp •• Swelling is rare. •• Tender with mediolateral compression of the calcaneus (“squeeze test”) or at the Achilles tendon insertion

•• Frequently, the calf muscles are tight (see Chapter 4, Physical Examination, Figure 4-4) and ankle dorsiflexors are weak.

•• More than 25% of patients have pes planus (flatfoot) or subtalar over-pronation (Figure 4-36).

DIFFERENTIAL DIAGNOSIS

•• Sever disease can be distinguished from most other conditions affecting the heel by location of pain, age of patient, and absence of other symptoms.

•• Swelling and erythema are unusual with Sever disease and should prompt

evaluation for other causes of heel pain, such as ——Calcaneal stress fracture ——Plantar fasciitis ——Retrocalcaneal bursitis ——Achilles tendinitis ——Heel contusion ——Heel fat pad syndrome ——Bone cyst ——Infection, tumor, and systemic disease, such as ankylosing spondylitis or juvenile idiopathic arthritis

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DIAGNOSTIC CONSIDERATIONS

•• Sever disease is a clinical diagnosis. •• Imaging studies are helpful only to rule out other causes of heel pain. ——Radiographic findings such as fragmentation, sclerosis, and widening of the apophysis occur with normal apophyseal development.

——MRI findings may include bone bruising and edema in the calcaneal apophysis or metaphysis.

TREATMENT

•• Activity that causes significant pain or altered gait should be avoided. Discomfort that occurs only after activity should not preclude participation.

•• Heel cups (Figure 33-8) or heel lifts may be helpful in reducing pain to allow

resumption of activity but should be discontinued when asymptomatic because longterm use can contribute to calf muscle tightness. For athletes who compete in sports barefoot (eg, gymnasts, dancers), there are pull-on ankle sleeves with heel cups built in. •• Gastrocnemius/soleus complex stretching (Figure 33-9) •• Ice to reduce pain (apply for 15–20 minutes, 2 or 3 times a day) •• NSAIDs may be helpful if rest, ice, heel cups, and stretching do not relieve the pain. •• Custom-molded shoe inserts may be helpful for those with pes planus or subtalar over-pronation. •• Limit training time on hard surfaces and in cleated shoes, which can concentrate force over the posterior heel. •• Avoid running and jumping in bare feet if possible. EXPECTED OUTCOMES/PROGNOSIS

•• Most patients are able to return to their previous level of activity within 2 months. •• Symptoms may recur but will resolve with time, before or concurrent with closure of the calcaneal apophysis at about 12 years of age in girls and 15 years of age in boys.

•• Long-term sequelae and complications into adulthood have not been reported. Figure 33-8. Heel cups.

TuliGel Heavy Duty Heel Cups, TuliGel, and Tuli’s are trademarks of Medi-Dyne Healthcare Products, Ltd, Colleyville, TX.



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Figure 33-9. (A) Calf muscle stretch using a towel. (B) Standing calf stretches should be performed with knee straight (for gastrocnemius muscle) and with knee bent (for soleus muscle). Used with permission from Ann & Robert H. Lurie Children’s Hospital, Chicago, IL.

WHEN TO REFER

•• Refer to a pediatric sports medicine specialist ——If unable to bear weight or if there is no improvement with treatment in 6 to 8 weeks; a brief period (2–4 weeks) in a walking boot may be considered

PREVENTION

•• Maintain calf flexibility and ankle dorsiflexion strength, especially during periods of rapid growth.

•• Limit use of cleated shoes and running time on hard surfaces. •• Do not push through pain with activity.

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Iselin Disease INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Iselin disease refers to foot pain due to apophysitis of the base of the fifth

metatarsal caused by repetitive traction from the peroneus brevis tendon. •• Children aged 12 to 13 years are most at risk; however, it can occur as early as 8 years of age in girls and 10 years of age in boys; it is often under-recognized. •• It is most common in sports that stress the forefoot, such as roller-skating, ice skating, and ballet. SIGNS AND SYMPTOMS

•• Lateral foot pain that is worse with activity •• Friction or pressure from shoes or skates can exacerbate the pain. •• Onset may be acute (after an ankle inversion injury) or develop insidiously. •• Tenderness, and often a bony prominence, at the base of the fifth metatarsal (see Chapter 4, Physical Examination, Figure 4-38).

•• There may be mild erythema and edema. •• The patient may alter gait to walk on the medial side of the foot. •• Resisted ankle eversion and passive ankle inversion usually reproduce the pain. DIFFERENTIAL DIAGNOSIS

•• Iselin disease should be distinguished from an acute fracture through the base

of the fifth metatarsal (Figure 33-10). The apophysis is longitudinally oriented, whereas a fracture line is transverse. •• Less common etiologies of lateral foot pain are infection and tumor. Figure 33-10. (A) Anteroposterior view of the foot of a skeletally immature patient shows a fifth metatarsal apophysis. The longitudinally oriented line is indicated by the black arrow; the white arrow indicates slight fragmentation at the base of the fifth metatarsal, which can be a sign of an apophysitis. (B) Acute fracture through the base of the fifth metatarsal. Note fracture line is transversely oriented (arrow), unlike apophysis, which is longitudinally oriented. Image A from Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:585. Reproduced with permission.



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DIAGNOSTIC CONSIDERATIONS

•• Iselin disease is a clinical diagnosis. •• Imaging studies may be helpful to evaluate for other causes of lateral foot pain in

cases in which the diagnosis is uncertain, or to rule out a fracture in cases of acute trauma. ——Radiographs should include AP, lateral, and oblique views of both feet for comparison. ——Sclerosis, widening, and fragmentation are all consistent with normal apophyseal development.

TREATMENT

•• Treatment is similar to that for Sever disease. •• Activity that causes significant pain or altered gait should be avoided. Discomfort that occurs only after activity should not preclude participation.

•• Stretches should target peroneal muscles as well as the gastrocnemius-soleus complex. •• Taping to support the midfoot may reduce mild pain with activity. •• During recovery, the athlete may continue sport-specific activities that do not cause pain.

EXPECTED OUTCOMES/PROGNOSIS

•• Duration of symptoms is highly varied and depends on age at onset and the inciting sport or activity.

•• Symptoms may resolve after a few months or persist for years. The fifth metatarsal apophysis closes at approximately 14 to 16 years of age.

•• Complications into adulthood are rare. ——Ossicles may rupture from the tubercle and persist after symptoms resolve. ——Bony overgrowth at the site is a fairly common finding. ——Neither of these conditions is likely to cause persistent problems. WHEN TO REFER

•• Refer to a pediatric sports medicine specialist for persistent pain or inability to return to activities after conservative treatment

PREVENTION

•• Prevention is similar to that for Sever disease. •• Shoe size should be checked frequently during periods of rapid growth. •• Do not push through pain with activity.

Stress Fractures: General INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Stress fractures are caused by repetitive loading of a bone. ——Under normal amounts of stress and loading, bone resorption is followed by

adequate new bone formation, resulting in strong bone in areas of high stress.

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Box 33-1. Prevention of Stress Fractures • Avoid rapid increases in mileage and intensity of training. Do not increase by more than 10% per week. • Running shoes should fit well and be replaced every 300 to 500 miles. • Irregular and hard terrain (concrete) should be avoided when possible. • Do not run through persistent pain. • Pain should be evaluated promptly so that contributing factors can be addressed and treatment initiated before serious injury develops. • Female athletes involved in at-risk sports should be screened carefully for components of relative energy deficiency in sport (previously known as the “female athlete triad”; discussed later in this chapter), which could put them at risk for stress fractures.

——When stress on bone is persistent or excessive, bone formation cannot keep up

with resorption, resulting in a weaker microtrabecular network, which can then fail under repetitive load. •• The tibia and lesser metatarsals are the most common sites of stress fractures in the young athlete. •• Stress fracture of the fifth metatarsal is less common but can be a more problematic injury due to propensity for delayed union or nonunion in the proximal metaphysis. •• The highest incidence rates of stress fractures are seen in long-distance runners. •• Other high-risk sports are those that require repetitive running and jumping, such as track and field, basketball, gymnastics, and soccer. •• The most common cause is a sudden increase in frequency, intensity, or duration of training. •• Other contributing factors include improper footwear, hard or irregular training terrain, pes planovalgus, pes cavus, leg-length discrepancy, and lower extremity weakness or inflexibility. •• Several factors can decrease the risk for developing a stress fracture (Box 33-1).

Metatarsal Stress Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The second and third metatarsals account for more than 80% of metatarsal stress fractures.

•• Runners and ballet dancers are most at risk. SIGNS AND SYMPTOMS

•• Patients report dorsal foot pain that is worse with activity and resolves with rest. •• Initially, the pain may only occur at the end of activity. As the injury progresses, pain occurs earlier in activity and eventually even at rest.

•• There is usually a history of a recent change in training, shoes, or running surface. •• Patients can usually localize the pain to a specific area of the foot by pointing with one finger.



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•• There will be localized bony tenderness, sometimes associated with soft tissue swelling.

•• Pain can often be elicited with axial loading of the affected metatarsal or with mediolateral compression of the metatarsals (ie, “squeeze test”).

DIFFERENTIAL DIAGNOSIS

•• Interdigital neuroma (Morton neuroma) •• Metatarsalgia •• Plantar fasciitis •• Freiberg infraction •• Enchondroma •• Infection •• Tumor DIAGNOSTIC CONSIDERATIONS

•• Radiographs (AP, lateral, oblique) may show evidence of stress fracture if

symptoms have been present for 4 to 6 weeks. ——Findings may include periosteal reaction (Figure 33-11), narrowing of the medullary canal, longitudinal cortical thickening, sclerosis, or fracture line.

Figure 33-11. (A) Stress fracture of the metatarsal (early)—medial oblique view. Anteroposterior (AP) view of the foot in a patient who reported a 2-day history of pain in the second metatarsal does not show an obvious fracture. (B) Stress fracture of the metatarsal (late)— AP view. AP view of the same patient 3 weeks later shows callus formation at the site of the stress fracture (black arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:622–623. Reproduced with permission.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 33-12. Magnetic resonance image showing metatarsal stress fracture (arrow), indicated by increased T2 signal (bright white) in third metatarsal and adjacent soft tissue. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

——If radiographic findings are normal but suspicion for stress fracture is high,

the athlete can be treated presumptively and radiographs repeated in 3 to 4 weeks. •• MRI may be performed if immediate confirmation of diagnosis is needed (Figure 33-12). TREATMENT

•• Decrease weight-bearing activity to a pain-free level. •• Use of a cast shoe or walker boot may allow for pain-free weight bearing. Consider arch and/or metatarsal support in shoe or boot for comfort.

•• If the patient is still having pain with ambulation in a walker boot, crutches may be used until walking is pain-free.

•• When ambulation is no longer painful and tenderness is resolved, a progressive return to activity is initiated. Patients can usually resume running in 4 to 6 weeks. •• Return to running should begin slowly and follow a program of gradually increasing mileage and intensity. •• Repeat radiographic studies are reserved for cases that do not respond to conservative management. In these cases, computed tomography (CT) can be used to evaluate the presence of bony healing or nonunion. MRI is not useful in these cases because findings can remain positive for up to 12 weeks after the original injury.



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Figure 33-13. (A) Jones fracture with bipartite os peroneum— anteroposterior (AP) view. AP view of the foot shows a transverse, incomplete fracture line with intact medial border at the metaphysealdiaphyseal junction (black arrow), a location characteristic of a Jones fracture. A bipartite os peroneum (white arrow) is also present. (B) Same patient. The fracture required open reduction and internal fixation. The fracture appears to have healed (black arrow). The bipartite os peroneum (white arrow) is seen again. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:611. Reproduced with permission.

EXPECTED OUTCOMES/PROGNOSIS

•• The natural history of an untreated stress fracture is progressive pain with activity and eventually at rest.

•• With adequate rest, monitoring, and gradual return to activity, complete recovery can be expected.

•• Stress fractures of the proximal fifth metatarsal just distal to the diaphyseal-

metaphyseal junction may be more prone to nonunion because of their location in a vascular watershed area (Figure 33-13).

WHEN TO REFER

•• Stress fractures of the proximal fifth metatarsal just distal to the diaphyseal-

metaphyseal junction require referral to a pediatric sports medicine specialist or a pediatric orthopaedic surgeon.

Tibial Stress Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Most tibial stress fractures are found at the posteromedial cortex of the tibia. •• Stress fracture of the anterior tibial cortex is a less common but more problematic injury (higher risk for nonunion and prolonged healing), referred to as the “dreaded black line” on radiographs.

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SIGNS AND SYMPTOMS

•• Shin pain that is worse with activity and resolves with rest •• Initially, the pain may occur only at the end of activity. As the injury progresses, pain occurs earlier in activity, and eventually at rest.

•• There is usually a history of a recent change in training, shoes, or running surface. •• Patients can usually localize the pain to a specific area of the tibia by pointing with one finger.

•• There will be localized bony tenderness (Figure 33-14, A), sometimes associated with soft tissue swelling.

•• Pain can often be elicited with single leg jumping (positive hop test). DIFFERENTIAL DIAGNOSIS

•• Shin splints (medial tibial stress syndrome or tibial periostitis) are more likely to be

bilateral and demonstrate diffuse tenderness that is most pronounced at the medial border of the tibia at the muscle-bone junction (Figure 33-14, B). Patients often report the pain decreases after a warm-up and worsens when they stop activity. This is in contrast to stress fractures, which usually demonstrate persistent pain that worsens after the warm-up and only decreases when activity stops. •• Other less common etiologies of shin pain include chronic exertional compartment syndrome, infection, and tumor. DIAGNOSTIC CONSIDERATIONS

•• Diagnostic procedure is the same as for metatarsal stress fractures, except that

radiographic findings may not be positive even after 4 to 6 weeks. MRI may be used for diagnosis when stress fracture is suspected but radiographic findings are negative (Figures 33-15 and 33-16).

TREATMENT

•• Treatment is similar to that for metatarsal stress fractures. •• Use of a pneumatic leg brace at initial diagnosis for the patient who experiences

pain with walking may speed recovery and allow for more rapid return to activity (Figure 33-17).

Figure 33-14. (A) Location of tenderness with tibial stress fracture. (B) Location of tenderness with medial tibial stress syndrome. From Koester MC. Lower leg. In: Anderson SJ, Harris SS, eds. Care of the Young Athlete. 2nd ed. Elk Grove Village, IL: American Academy of Pediatrics; 2010:431–441.



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Figure 33-15. Anteroposterior view of left tibia in a patient training for a marathon shows subtle cortical irregularity in the proximal medial tibial diaphysis (arrow). This is the area of maximal tenderness. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:52. Reproduced with permission.

Figure 33-16. Coronal fat-suppressed T2-weighted magnetic resonance image shows marrow edema (black arrow) and a transverse stress fracture in the proximal medial tibial diaphysis (white arrow). There is also periosteal edema and edema in the adjacent calf muscle. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:52. Reproduced with permission.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 33-17. A pneumatic leg brace can reduce pain with walking and facilitate recovery for patients with stress fractures of the tibia or fibula. Courtesy of ActiveForever, Inc.

•• Physical therapy ——Useful for maintaining strength while resting from impact activity and

addressing underlying intrinsic risk factors, such as imbalances in muscle strength and/or flexibility. •• Patients can usually resume running in 6 to 8 weeks when pain and tenderness have resolved. EXPECTED OUTCOMES/PROGNOSIS

•• The natural history of an untreated stress fracture is progressive pain with activity and eventually at rest.

•• With adequate rest, monitoring, and gradual return to activity, complete recovery can be expected.

•• Anterior cortical injuries have a high risk of progression to complete fracture with continued activity.

WHEN TO REFER

•• Stress fractures of the anterior tibial cortex are difficult to treat and require

referral to a pediatric sports medicine specialist or pediatric orthopaedic surgeon. ——These injuries involve the tension-bearing side of the tibia and are considered high risk due to the possibility of progression to an acute transverse fracture. ——Treatment options include prolonged cast immobilization and non-weight bearing or intramedullary rodding. Rodding will generally allow for a quicker return to play.



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Femoral Neck Stress Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Femoral neck stress fractures occur most frequently in runners and dancers. •• Stress fractures on the superior aspect of the neck are on the tension side and are subject to distraction forces. Athletes with stress injuries in this location are at increased risk for progression to complete fracture. •• Stress injuries on the inferomedial aspect of the femoral neck are subject to compressive forces and may heal with more conservative treatment. SIGNS AND SYMPTOMS

•• Presenting symptoms are often vague. •• Patients report pain in the anterior hip, groin, or medial thigh during or after activity.

•• Pain may radiate to the anterior thigh or medial knee. •• If symptoms have been present for several weeks, the athlete may have aching hip pain at rest or at night.

•• Because physical examination findings in femoral neck stress fractures are

nonspecific, a high index of suspicion for this injury is warranted in any runner with anterior hip pain. •• The most common finding is painful and/or decreased range of motion, particularly with internal and external rotation. •• There may be tenderness in the inguinal region, but more often there is no tenderness to palpation. •• The patient may have antalgic gait, or the pain may be elicited with single leg weight bearing or hopping on the affected side (positive hop test). DIFFERENTIAL DIAGNOSIS

•• Hip flexor and/or adductor strain •• Iliopsoas bursitis •• Labral tear •• Internal snapping hip syndrome •• Inguinal or sports hernia •• Transient synovitis of the hip •• Slipped capital femoral epiphysis •• Perthes disease •• Infection (eg, septic arthritis, osteomyelitis) •• Neoplasm •• Remember that testicular pathology may also cause groin pain. DIAGNOSTIC CONSIDERATIONS

•• Radiographs (AP and frog lateral views of the hip) may show sclerosis, periosteal reaction, or cortical disruption (Figure 33-18).

•• Because radiographic findings are often normal, if history and examination

suggest femoral neck stress fracture, bone scan, MRI, or CT should be performed.

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Figure 33-18. Stress fracture of the femoral neck. A, Initial anteroposterior radiograph shows no apparent sign of fracture. B, Bone scan showing markedly increased uptake at site of femoral neck fracture (arrow). C, Subsequent radiograph shows sclerosis in femoral neck (arrow). From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:628. Reproduced with permission.

Figure 33-19. Magnetic resonance image of the hip showing compression side femoral neck stress fracture (arrow) in a 17-yearold runner. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

•• Because of its high sensitivity, MRI is considered the reference standard for

evaluating femoral neck stress fractures and will reveal increased signal consistent with bone marrow edema as well as cortical disruption if present (Figure 33-19). It can help localize the injury to the tension or compression side. •• Bone scan is also a highly sensitive test and in some cases may be preferable because of cost and availability (Figure 33-18b). •• CT may be helpful with surgical planning or evaluating healing. TREATMENT

•• Most compression-side fractures can be treated nonoperatively with 6 to 8 weeks of restricting activity to only pain-free motions. Partial weight bearing or non– weight bearing maybe needed to achieve pain-free ambulation. •• Tension-side fractures are preferably managed by percutaneous screw fixation followed by restricted weight bearing postoperatively. •• Physical therapy ——Useful for maintaining strength while resting from impact activity and addressing underlying intrinsic risk factors, such as imbalances in muscle strength and/or flexibility.



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EXPECTED OUTCOMES/PROGNOSIS

•• Most athletes with compression-side fractures can expect to return to their previous level of activity after appropriate treatment.

•• Tension-side fractures are at significant risk for progression to a complete break with displacement, osteonecrosis of the femoral head, nonunion, and varus deformity if left untreated.

WHEN TO REFER

•• Patients with confirmed or suspected femoral neck stress fracture should be

restricted to pain-free level of activity (non-weight bearing if needed) and promptly referred to an orthopaedic surgeon or pediatric sports medicine specialist due to the risk of progression to complete fracture, especially if the injury is located on the tension side.

Relative Energy Deficiency in Sport INTRODUCTION/ETIOLOGY

•• Relative energy deficiency in sport (RED-S) was previously known as the “female athlete triad.”

•• The change in name and scope reflects an expanded concept to include a wider

range of physiologic and psychological outcomes as well as application to both female and male athletes. •• Low energy availability (LEA) is major component that describes mismatch between energy intake (diet) and energy expended in exercise and athletic activity. •• LEA compromises the body’s ability to support functions required for optimal health and performance; thus, LEA is a significant risk factor for overuse injuries. •• While female athlete triad was reported to occur most commonly in sports in which a lean physique is believed to provide a competitive advantage, RED-S reflects an energy imbalance that can be seen in any athlete whose caloric intake is not sufficient for the athlete’s energy expenditure. •• Although true osteoporosis may be uncommon, low bone mineral density may put these athletes at increased risk for stress fractures. •• See Chapter 43, Bone Health Evaluation in the Child Vulnerable to Fracture, for further details on evaluation and management of RED-S.

Pelvic Apophysitis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Less common than OSD or Sever disease •• Involves insertion sites of major abdominal and hip muscles—anterior superior

iliac spine (sartorius), anterior inferior iliac spine (rectus femoris), ischial tuberosity (hamstrings), iliac crest (abdominal muscles and tensor fascia lata), and anterior pubis (adductor longus). (For an illustration of these sites, see Chapter 32, Traumatic Muscle Injuries, Figure 32-4.) •• Occurrence is highest in those 14 to 18 years of age

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•• Most common in distance runners, sprinters, dancers, kickers (in soccer or American football)

SIGNS AND SYMPTOMS

•• Pain at site of affected apophysis related to activity •• Tenderness with palpation of affected apophysis •• Pain with activation and/or passive stretch of muscle or muscle group with attachment or insertion on affected apophysis

•• May have positive Thomas or Ely test indicating tight quadriceps or rectus femoris (see Chapter 4, Physical Examination, Figure 4-6)

•• Sudden onset of pain with or without a pop suggests avulsion fracture (see Chapter 32, Traumatic Muscle Injuries)

DIFFERENTIAL DIAGNOSIS

•• Muscle or tendon strain •• Stress fracture •• Apophyseal avulsion fracture •• Piriformis syndrome •• Lumbar disk injury or disease DIAGNOSTIC CONSIDERATIONS

•• Radiographs are not necessary to make the diagnosis of apophysitis but should be performed to evaluate for avulsion fracture when the onset of pain was sudden.

•• With apophysitis, radiographic findings are likely to be normal, but may show slight widening at affected apophysis compared to unaffected side

TREATMENT

•• Activity modification, rest from painful activity and sports •• Consider protective or partial weight bearing if there is pain with ambulation. •• Ice for relief of pain at rest or with activities of daily living •• Physical therapy focusing on progressive stretching of affected muscle groups when pain-free

•• Gradual return to activity once pain has resolved EXPECTED OUTCOMES/PROGNOSIS

•• Expected return to activity may be 3 to 4 weeks to several months depending on location and sport activity

•• Can expect complete resolution with closure of apophysis (ie, skeletal maturity) •• Failure to identify and treat significant avulsion can result in prolonged pain and potential for nonunion.

WHEN TO REFER

•• Refer to a pediatric sports medicine specialist for persistent pain after conservative treatment



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•• Refer to a pediatric orthopaedic surgeon for significantly displaced avulsion fractures (> 1 cm) (see Chapter 32, Traumatic Muscle Injuries)

PREVENTION

•• Lower extremity and trunk muscle stretching, especially during periods of rapid growth and muscle development

•• Encourage cross-training and a variety of sports for balanced muscle development.

CHAPTER 34

Patellofemoral Disorders Patellofemoral Pain Syndrome INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Patellofemoral pain syndrome (PFPS), also called “runner’s knee,” is one of the

most common knee disorders. ——Affects up to 29% of adolescents per year, including 5% to 15% of adolescent athletes during a single sports season ——Also common in those who do not participate in sports ——Twice as common in females as in males •• Pain comes from mechanical strain or stress on the medial or lateral retinaculum or subchondral bone (Figure 34-1). •• The etiology is often multifactorial and involves some combination of abnormal patellar tracking, direct trauma, and overuse. ——The most frequent causes of abnormal patellar tracking are quadriceps weakness and tightness along with hip muscle weakness. These muscle imbalances are more common during periods of rapid growth. ——Less frequently, anatomic variants such as femoral anteversion or external tibial torsion cause abnormal patellar tracking (see Chapter 25, Out-toeing). Figure 34-1. Anterior knee anatomy. From Dixit S, DiFiori JP, Burton M, Mines B. Management of patellofemoral pain syndrome. Am Fam Physician. 2007;75(2):195. © Todd Buck.

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•• Other risk factors include rapid increase in activity, direct trauma (eg, a fall onto

the patella), and patellar hypermobility ——PFPS occurs in 20% to 27% of patients with chronic anterior cruciate ligament (ACL) deficiency, and in 48% of patients with chronic posterior cruciate ligament deficiency. ——PFPS is reported by 32% of patients after ACL reconstruction. •• PFPS should be distinguished from chondromalacia, which is not a diagnosis, but rather a surgical finding of softening or fibrillation of the patellar articular cartilage. ——Many people with PFPS do not have chondromalacia, and many with chondromalacia do not have PFPS. ——In those with chondromalacia and PFPS symptoms, no correlation exists between severity of chondromalacia and severity of symptoms. SIGNS AND SYMPTOMS History

•• Anterior knee pain that is worse with activity, especially running and knee flexion movements such as jumping, using stairs (especially descending), squatting, and prolonged sitting (theatre sign). •• Pain is often peripatellar, but many patients are unable to localize pain to one specific location and use the “grab sign” (patient grabs the entire front of the knee) to show where the pain is felt. •• Pain is frequently bilateral. •• There may be mild swelling or grinding, popping, or cracking around the patella with knee extension or flexion. •• Some patients report a “giving way” sensation. This is caused by pain inhibiting the quadriceps muscle, resulting in knee collapse without joint instability. Physical Examination

•• In many cases the physical examination is normal. •• In some cases, one or more of the following findings may be noted: ——Patella „„Infrapatellar

swelling or mild effusion

™™ Tenderness along the patellar facets or retinaculum (Figure 34-2)

Figure 34-2. Palpation of medial and lateral patellar facets. From Dixit S, DiFiori JP, Burton M, Mines B. Management of patellofemoral pain syndrome. Am Fam Physician. 2007;75(2):194–202.



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Figure 34-3. Patellar maltracking: “J” sign. As the patient actively extends the knee, the patella follows an inverse “J” path from point A to point B, rather than gliding normally along a straight line. From Dixit S, DiFiori JP, Burton M, Mines B. Management of patellofemoral pain syndrome. Am Fam Physician. 2007;75(2):195. © Todd Buck.

™™ Pain with compression of patella ™™ Lateral patellar tracking with knee extension, known as the inverted “J”

sign (Figure 34-3) ™™ Hypermobile patella (can be displaced either medially or laterally more

than 25%–50% of its width)

——Other contributing factors that may be present include „„Weak

hip external rotators or hip abductors lateral structures, including lateral retinaculum (lateral patellar tilt), iliotibial band, and vastus lateralis „„Weak medial quadriceps, especially vastus medialis, leading to insufficient medial pull on the patella „„Tight quadriceps (see Chapter 4, Physical Examination, Figure 4-6) „„Tight gastrocnemius (see Chapter 4, Physical Examination, Figure 4-4) „„Miserable malalignment—internal femoral rotation (femoral anteversion), external tibial rotation, and pes planus „„Excessive lateralization of the tibial tubercle, such as from external tibial rotation „„Tight

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DIFFERENTIAL DIAGNOSIS

•• Patella dislocation or subluxation •• Patellar tendinopathy •• Osgood-Schlatter disease •• Sinding-Larsen–Johansson syndrome •• Iliotibial band friction syndrome •• Focal chondral or osteochondral lesion of the trochlea or patella •• Focal chondral or osteochondral fracture of the trochlea or patella •• Inflamed infrapatellar fat pat •• Osteochondritis dissecans •• Meniscus tear •• Plica syndrome •• Inflammatory arthropathy •• Infection •• Hip conditions such as Perthes disease or slipped capital femoral epiphysis can produce vague knee pain in the setting of a normal physical examination.

DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be made clinically. •• Imaging studies and laboratory tests are normal in patients with PFPS, but they

may be necessary to rule out other causes of anterior knee pain (see “Differential Diagnosis” above). ——Radiographs of the knee (anteroposterior [AP], lateral, notch, and sunrise or Merchant views) should be the first step in the evaluation for alternate causes of knee pain suggested by history or examination, including „„History of direct trauma „„Significant bruising, swelling, or effusion „„Restricted motion „„Pain at rest „„Mechanical symptoms (catching, locking, or giving way) „„Focal tenderness not around the patella (eg, femoral condyle or joint line) „„Patients younger than 10 years „„Bipartite patella occurs in less than 2% of the population and is rarely a cause of patellofemoral pain. ——Advanced imaging studies, such as magnetic resonance imaging (MRI), may be necessary to identify conditions that typically do not produce findings on plain radiographs (eg, osteochondritis dissecans, meniscus tear, osteomyelitis, chondral injuries, synovial chondromatosis). ——Hip radiographs are indicated if there is tenderness around the hip or if hip range of motion is reduced or painful.

TREATMENT

•• When pain is acute or severe, a short period in a knee immobilizer may be helpful. •• A comprehensive rehabilitation program of combined core, hip, and thigh muscle strengthening and stretching is the key to successful treatment as this will often improve patellar tracking in the trochlear groove.



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•• Patellar taping with either the McConnell taping technique (Figure 34-4),

kinesiology taping technique (Figure 34-5), or patellar stabilization brace (Figure 34-6) may reduce pain to allow for progression of strengthening exercises. •• Patients with flexible pes planus and subtalar overpronation may benefit from prefabricated shoe inserts to improve alignment by decreasing knee valgus. Figure 34-4. McConnell taping technique. Tape is applied to the lateral aspect of the knee first, and tension is pulled as the tape is applied to the patella, pulling it medially to correct malalignment. Courtesy of Madeline McHugh, ATC.

Figure 34-5. Kinesiology taping technique. Courtesy of Madeline McHugh, ATC.

Figure 34-6. Patellar stabilization brace. Courtesy of Madeline McHugh, ATC.

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•• Painful activities should be temporarily modified or avoided. ——Effort should be made to identify a list of non-painful activities that the

athlete can substitute, such as stationary biking, elliptical, swimming (avoiding breaststroke), walking, and strength training. •• A short course of nonsteroidal anti-inflammatory drugs (NSAIDs) and applying ice after activities may reduce persistent pain. EXPECTED OUTCOMES/PROGNOSIS

•• The natural history of PFPS in adolescence is for spontaneous resolution over

time as skeletal maturity evolves and growth slows, although PFPS can recur in adulthood for some patients. Recurrence is often due to nonadherence with continued maintenance of an exercise program aimed at strengthening the hips and core. •• Nonoperative treatment is successful in reducing symptoms for most patients, including those with recurrent episodes of PFPS. •• Prognosis for patients with miserable malalignment is fair. ——There is some evidence that patients with PFPS may be at increased risk for early osteoarthritis. ——Realignment procedures may be recommended for the rare patient with severe malalignment whose symptoms limit functional activities of daily living. PREVENTION

•• Maintain core, hip, and thigh strength and flexibility, especially in the quadriceps, hip abductors and external rotators, hamstrings, and iliotibial band.

•• When starting a new sport or physical activity or increasing activity levels,

adhere to a training program that gradually increases duration and intensity of activity.

WHEN TO REFER

•• Refer to a sports medicine physician when there is no improvement in symptoms despite at least 6 weeks’ compliance with a comprehensive rehabilitation program.

Patellar Subluxation or Dislocation INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Terminology ——Dislocation: the patella shifts completely out of the femoral groove (trochlea) ——Subluxation: the patella shifts partially out of the femoral groove •• Acute, traumatic patellar dislocation ——Peak incidence at age 15 years, when rapid growth results in tight muscletendon units and relative ligamentous laxity

——Incidence is estimated at 43 per 100,000 children and is similar for males and females



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Figure 34-7. Patellar dislocation (postreduction). Axial T2-weighted, fat-suppressed magnetic resonance image shows increased signal intensity indicating marrow edema in the lateral femoral condyle and the medial patella (black arrows), consistent with impaction injury. Note the joint effusion with an osteocartilaginous fragment in the lateral joint space (white arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:492. Reproduced with permission.

——Nearly 70% of acute, traumatic patellar dislocations occur during sports. ——The usual mechanism of injury is a sudden internal rotation of the femur

or valgus stress on the knee while the foot is fixed, tearing the medial patellofemoral ligament (MPFL), which is the primary restraint to lateral displacement. ——Nearly 25% of acute patellar dislocations result in an osteochondral fracture of the patella (medial or middle facet) or femur (lateral aspect of trochlea) (Figure 34-7). •• Chronic patellar instability (recurrent subluxations or dislocations) ——May develop after an acute, traumatic patellar dislocation in a previously normal knee. Risk for recurrence after an acute traumatic patellar dislocation is approximately 35%, with highest risk in the 2 years following the initial dislocation. Younger age and trochlear dysplasia increase the risk for recurrence. ——Often associated with one or more of the following intrinsic risk factors: „„Ligamentous laxity „„Femoral trochlear dysplasia (flattening of the sulcus) „„Patella alta „„Tight lateral patellar supporting structures (iliotibial band, lateral quadriceps, lateral retinaculum) „„Positive family history of patellar instability „„Patients with intrinsic risk factors often experience instability with minimal trauma, such as standing from a seated position or pivoting while walking. SIGNS AND SYMPTOMS

•• Most patients report a popping or tearing sensation and feeling the patella painfully shift out of place.

•• Most dislocations (90%) reduce spontaneously when the knee is extended.

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•• Those that do not reduce spontaneously will present with visible lateral displacement of the patella and prominent femoral condyles.

•• A hemarthrosis usually develops within a few hours after injury. ——A large, tense hemarthrosis is often associated with an osteochondral fracture. •• Patients usually have difficulty bearing weight and have limited knee range of motion.

•• There may be tenderness around the patella, especially over the medial facet,

medial retinaculum, and adductor tubercle of the medial femoral epicondyle.

•• A patellar apprehension test (see Chapter 4, Physical Examination, Figure 4-35) is usually positive.

•• After recurrent episodes ——Signs and symptoms may be less pronounced than after the initial injury. ——May have one or more intrinsic risk factors „„Hypermobile

patella iliotibial band, tight lateral quadriceps (see Chapter 4, Physical Examination, Figures 4-6 and 4-7), or tight lateral retinaculum causing lateral patellar tilt (downward pressure on medial border of patella does not significantly elevate lateral border of the patella) „„Beighton score (see Chapter 4, Physical Examination, Figure 4-2) greater than 4 in adolescents or greater than 5 in children, indicating generalized ligamentous laxity „„Tight

DIFFERENTIAL DIAGNOSIS

•• PFPS ——Can cause a sensation of the knee “giving out” because of pain inhibiting the quadriceps muscle, resulting in knee collapse without instability

•• Ligament sprain ——Injury mechanism, signs, and symptoms are similar to ACL injury, so

Lachman test should be performed on all patients with suspected patellar dislocation •• Osteochondritis dissecans •• Meniscus tear •• Fracture DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be made clinically. •• Pre- and post-reduction radiographs (AP, lateral, oblique, and sunrise views) are

performed to evaluate for associated osteochondral fracture. ——After successful reduction, mild lateral patellar subluxation or tilt may be seen on the sunrise view (Figure 34-8). ——Patella alta or a shallow trochlea may be noted. •• MRI is not necessary in the acute period. ——For patients with persistent pain or mechanical symptoms (locking, catching) during rehabilitation, MRI is useful to evaluate for an osteochondral or chondral injury that may have been missed on initial radiographs (see Figure 34-7).



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Figure 34-8. Bilateral axial patellofemoral radiographs (sunrise view). A, Patellae well aligned in the femoral groove. B, Bilateral patellar subluxation and lateral patellar tilt. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:740. Reproduced with permission.

——MRI can also assess for subtle chondral injuries and the location and degree of injury to the MPFL, which helps with surgical planning for patients with recurrent instability. ——MRI can more accurately assess patellar instability risk factors such as trochlear dysplasia and excessive lateralization of the tibial tubercle (tibial tubercle-trochlear groove distance > 20 mm). TREATMENT

•• For dislocations that do not reduce spontaneously, prompt reduction is performed using adequate analgesia or sedation. ——Reduction is performed by positioning the athlete supine with the knee extended and gently applying a medial force to the lateral side of the patella. ——Radiographs are obtained before and after reduction to evaluate for loose bodies, which would eventually require arthroscopy for fixation or removal. •• After reduction ——A compression wrap is applied, and the knee is immobilized in extension using a commercial knee immobilizer. ——Ice and NSAIDs can reduce pain and swelling. ——If there is a large hemarthrosis, aspiration may reduce patient discomfort and facilitate early rehabilitation. •• After 7 to 10 days of immobilization and weight bearing as tolerated ——Transition from a knee immobilizer to a functional patellar stabilizing brace (see Figure 34-6) or patellar taping (see Figures 34-4 and 34-5). After recurrent dislocations, this may be possible within a few days of the injury.

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——Comprehensive rehabilitation program begins with early mobilization and

isometric quadriceps strengthening, followed by progressive core, hip, and lower extremity strengthening. ——Return to sports is allowed when there is normal range of motion as well as adequate strength, balance, coordination, and endurance. This typically takes 2 to 3 months. A patellar stabilizing brace or patellar taping is recommended during sports activity to reduce the risk for recurrence. ——Activity modification should be considered for patients with recurrent symptoms despite compliance with a comprehensive rehabilitation program and use of a brace or taping. •• Operative treatment ——Patients with frequent dislocations despite compliance with several months of comprehensive rehabilitation may benefit from surgical reconstruction of the MPFL. If intrinsic risk factors are present, a realignment procedure may also be performed. ——Primary repair of the MPFL in the first 2 weeks after injury is occasionally recommended for high-level athletes, but has been shown to have a higher failure rate than MPFL reconstruction. ——Postoperative rehabilitation is the same as for nonoperative treatment. ——Return to sports after surgery is usually possible in 4 to 6 months. EXPECTED OUTCOMES/PROGNOSIS

•• After nonoperative treatment prognosis is good, with 75% reporting good

outcomes many years later. ——Recurrence rates range from 15% to 71% ——Recurrence is more likely with „„Younger age „„Intrinsic risk factors „„Inadequate rehabilitation „„Failure to maintain good lower extremity strength „„Participation in high-risk sports and activities ——Some patients will experience chronic patellofemoral pain. •• After operative treatment ——Prognosis is variable, but operative treatment is generally better than nonoperative treatment for preventing recurrent instability in the shortterm; however, long-term functional outcomes are similar for those treated operatively and nonoperatively. ——84% return to sports after surgery ——Potential complications after a realignment procedure include „„Nonunion of the osteotomy site „„Excessive lateral retinacular release causing medial patellar instability „„Genu recurvatum may develop after a tibial tubercle transfer in a skeletally immature patient.



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WHEN TO REFER

•• To an orthopaedic surgeon ——Osteochondral fracture or loose body ——High-level athlete with acute complete tear of the MPFL ——Recurrent patellar dislocations •• To a sports medicine physician ——Persistent symptoms despite compliance with a comprehensive rehabilitation program

PREVENTION

•• Strategies shown to reduce the risk for recurrent pain and instability ——Using a functional patellar stabilizing brace or taping during activity (see Figures 34-4–34-6)

——Maintaining good strength in the lower extremities, especially in the quadriceps, hip abductors, and hip external rotators

CHAPTER 35

Internal Derangement of the Knee (Knee Injury) Anterior Cruciate Ligament Sprains INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Anterior cruciate ligament (ACL) injuries occur most commonly in basketball, soccer, American football, and downhill skiing.

•• Typical mechanism of injury is a valgus or rotational force to the knee with the foot planted, or hyperextension

•• More than 70% of ACL injuries occur without body contact (ie, have a

noncontact mechanism). ——Landing from a jump ——Decelerating quickly ——Changing direction suddenly •• ACL injuries are being diagnosed in patients younger than 11 years with increasing frequency because of increased awareness, better diagnostic tools, and more children participating in high-intensity sports training at younger ages. ——A high index of suspicion is necessary for ACL injuries, especially for younger children in whom such injuries were previously thought to be uncommon. Long delays in treatment affect outcomes. ——Children may experience an intrasubstance ACL tear or an avulsion injury of the ACL tibial attachment (see “Tibial Eminence Fracture” section in this chapter). The diagnosis and treatment of each is markedly different. •• After 11 years of age, the incidence increases steadily with age and skill level, with an overall incidence of 1 per 100 high school athletes. •• Girls who play sports that involve running and cutting are 2 to 8 times more likely to injure their ACL than boys, probably because of any of the following factors: ——Increasing ACL laxity due to an increase in estrogen ——The tendency to have a smaller intercondylar notch, a smaller ACL, a higher incidence of generalized ligamentous laxity, knee valgus, femoral internal rotation, and greater strength imbalances in the lower extremities ——Most importantly, poor neuromuscular control of knee motion during landing and cutting „„Reduced activation of the hamstring muscles „„Reduced knee and hip flexion „„Greater dynamic knee valgus 355

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SIGNS AND SYMPTOMS

•• Sensation of a painful pop, followed by immediate swelling, a feeling of instability, and difficulty bearing weight

•• Physical examination reveals a significant effusion and limited range of

motion. ——About 67% of acute hemarthrosis in children is caused by an ACL tear, but in children younger than 10 years hemarthrosis may not occur with ACL rupture. •• There may not be any tenderness unless associated injuries are present. DIFFERENTIAL DIAGNOSIS

•• Sprain of the posterior cruciate ligament (PCL) or collateral ligaments •• Meniscal tear •• Chondral injury •• Distal femoral or proximal tibia fracture •• Patellar sleeve avulsion •• Tibial eminence fracture •• Patellar subluxation •• “Giving way” due to patellofemoral pain DIAGNOSTIC CONSIDERATIONS

•• The diagnosis is established clinically by demonstrating a positive Lachman test (see Chapter 4, Physical Examination, Figure 4-29).

•• Posterior drawer test, varus and valgus stress tests, and Apley and McMurray

tests should be performed to evaluate for other ligamentous or meniscus injuries (Table 35-1) (see also Figures 4-30–4-34).

Table 35-1. History and Physical Examination Findings of Acute Knee Injuries Injured Structure

Mechanism of Injury

Physical Examination Test

ACL

Hyperextension, twisting

Lachman test

MCL

Valgus force

Valgus stress test

Patellar dislocation

Direct blow to the patella or twisting injury to the extended knee

Apprehension test

PCL

Posterior force to the tibia or hyperextension

Sag sign Posterior drawer test Quadriceps active test

Meniscus

Twisting

LCL

Varus force

McMurray test Apley compression test Varus stress test

Abbreviations: ACL, anterior cruciate ligament; LCL, lateral collateral ligament; MCL, medial collateral ligament; PCL, posterior cruciate ligament.



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•• Radiographs (anteroposterior [AP], lateral, skyline, and tunnel views) should be

obtained to rule out other injuries. ——AP view may reveal a small fleck of bone avulsed from the lateral tibia (Segond fracture) (Figure 35-1), which is pathognomonic of an ACL injury. •• Magnetic resonance imaging (MRI) may be performed to evaluate for associated soft tissue injuries, as suggested by history and physical examination. Although it is not always necessary, MRI is also helpful to confirm an ACL injury (Figure 35-2), especially when surgery is being considered. Figure 35-1. Segond fracture, anteroposterior view. Black arrows point to a small avulsion (flake) fracture of the lateral tibia just below the articular surface of the tibia. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:515. Reproduced with permission.

Figure 35-2. A, Magnetic resonance imaging (MRI) scan of normal anterior cruciate ligament (ACL). B, Sagittal T2-weighted MRI scan showing disruption of the proximal fibers of the ACL (black arrows), typical of an ACL tear. A courtesy of Cynthia LaBella, MD. B from Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:548. Reproduced with permission.

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TREATMENT

•• Initial treatment consists of protection, rest, ice, elevation, and mobilization

(PRICEM). ——Protection is provided with crutches or a knee immobilizer. ——Nonsteroidal anti-inflammatory drugs are helpful for control of pain and swelling. ——If there is a large hemarthrosis, aspiration can improve patient comfort and facilitate early rehabilitation. •• A rehabilitation program, starting with early weight-bearing and range of motion exercises, is initiated as soon as possible after the pain begins to subside, usually within 5 to 7 days after injury. •• Whether to pursue nonoperative or operative treatment is a complex decision that depends on the patient’s age, symptoms, degree of laxity on examination, associated injuries, and future sports demands. An orthopaedic surgeon or a pediatric sports medicine physician can provide information to help the patient and family choose the most appropriate treatment. •• Nonoperative treatment consists of a comprehensive rehabilitation program to build lower extremity and core strength, balance, and endurance, which can take 6 to 12 weeks. ——After nonoperative treatment, patients are advised to avoid high-demand sports (Box 35-1) because of the risk for recurrent instability and secondary meniscal and chondral injuries. ——May be appropriate for patients who do not intend to pursue high-demand sports. This is controversial because playground activities are often high demand. ——May be used as a temporizing treatment of skeletally immature athletes who intend to pursue high-demand sports in the future but want to delay surgical treatment until the physes have closed. However, physeal-sparing surgical techniques are available to avoid these delays. •• Operative treatment in skeletally mature patients ——Operative treatment is advisable for „„Patients with an associated meniscus tear or other ligament injury „„Skeletally mature athletes who intend to pursue high-demand sports ——A variety of arthroscopic techniques and graft types are available for reconstructing the ACL in skeletally mature athletes. „„Bone-patellar tendon-bone and hamstring autografts have been used with success, and quadriceps autograft is becoming increasingly common; the choice is surgeon dependent. „„A variety of allografts are also available, although these are generally thought to be at higher risk of failure than autograft in young athletes. ——After surgery, rehabilitation follows the same protocol as for nonoperative treatment, but it takes longer to complete. ——Return to sports typically takes 9 to 12 months. •• Treatment of skeletally immature athletes with isolated ACL injuries is controversial. ——Surgical treatment using standard techniques creates a risk of growth disturbance. The tunnel site for the new ligament would traverse the tibial and femoral physes.



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Box 35-1. Anterior Cruciate Ligament Demands of Various Sports High demand • American football • Soccer • Ice hockey • Field hockey • Basketball • Lacrosse • Gymnastics • Wrestling • Volleyball

Moderate demand • Baseball • Softball • Track (non-jumping field events) • Tennis (doubles)

Low demand • Swimming • Jogging • Crew Adapted from Dorizas JA, Stanitski CL. Anterior cruciate ligament injury in the skeletally immature. Orthop Clin North Am. 2003;34:355–363. © 2003, with permission from Elsevier.

——Physeal-sparing techniques may be used to allow very young athletes to return

to high-demand sports and are being used with increasing frequency. large number of techniques have been described. Some of these techniques closely resemble adult-type reconstruction, but the tunnels remain within the epiphysis. „„The risk of associated meniscal tears and cartilage injury is significantly increased if surgical treatment is delayed beyond 3 months; however, no study has shown that surgical treatment slows the progression of radiographic arthritis. „„Although the risk of physeal arrest is extremely low, long-term stability after these modified procedures is unproven. Skeletally immature patients may eventually require standard ACL reconstruction on reaching skeletal maturity. „„A

EXPECTED OUTCOMES/PROGNOSIS

•• Despite disparity in injury rates, treatment outcomes are generally similar for boys and girls.

•• After nonoperative treatment ——An ACL-deficient knee is prone to episodes of instability and risk of secondary meniscus tears and cartilage injury.

——Twenty percent to 27% of patients develop patellofemoral pain.

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•• After ACL reconstruction ——Patellofemoral pain is reported by 32% of patients. ——Risk factors include persistent quadriceps weakness, knee flexion contracture after rehabilitation, and use of a patellar tendon autograft.

•• After surgical treatment of an ACL tear ——Many athletes are able to return to their previous level of competition. ——Recurrence rate after surgery (ie, graft rupture) is approximately 10% to 15%. ——After ACL injury, the frequency of ACL injury in the opposite knee is about 7% to 10%. Girls and younger children are at highest risk.

•• Unfortunately, regardless of treatment, an ACL sprain is associated with a 10-fold

increased risk for osteoarthritis later in life. This is probably because of intra-articular damage suffered at the time of the injury and the neuromuscular deficits that follow. •• Partial tears, especially in the skeletally immature athlete, may have satisfactory outcomes after nonoperative treatment. ——Some partial tears may heal sufficiently to provide knee stability for highdemand sports. WHEN TO REFER

•• Patients with ACL sprains should be referred to an orthopaedic surgeon with

expertise in pediatric sports injuries or a pediatric sports medicine physician to evaluate and discuss treatment options.

PREVENTION

•• Neuromuscular training programs that include progressive strengthening and

plyometrics (repetitive jumping exercises) while teaching safe landing mechanics have been shown to reduce ACL injury risk in female adolescent athletes by 72%. Resources for evidence-based neuromuscular training programs can be found at www.aap.org/cosmf. •• A functional knee brace (Figure 35-3) can provide a subjective sense of improved stability, but there is no evidence that it reduces the risk of first-time or recurrent ACL sprains in most sports and activities. Two exceptions are motocross athletes and downhill skiers, for whom ACL braces have been shown to reduce the risk for first-time ACL injuries and recurrent ACL tears after ACL reconstruction, respectively.

Tibial Eminence Fracture INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The tibial eminence is where the ACL inserts. •• Tibial eminence fractures occur in children between 8 and 14 years of age. •• The usual mechanism of injury is hyperextension of the knee with or without valgus or rotational stress.

•• Historically, these injuries were most commonly reported after a fall from a bicycle. •• More recently, tibial eminence fractures are being seen with increasing frequency in other sports because of the growing number of children participating in highintensity sports training at younger ages.



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Figure 35-3. Hinged knee brace. Courtesy of DJO LLC.

Figure 35-4. Radiograph of tibial eminence fracture (arrow).

SIGNS AND SYMPTOMS

•• Sensation of a painful pop, followed by immediate swelling, a feeling of instability, and difficulty bearing weight

•• Physical examination reveals significant effusion and limited range of motion. •• A Lachman test may be positive and may also be painful. DIFFERENTIAL DIAGNOSIS

•• Same as for an ACL sprain DIAGNOSTIC CONSIDERATIONS

•• Radiographs (with AP and lateral views) will typically demonstrate the fracture (Figure 35-4).

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•• Injury severity is graded based on the amount of displacement of the avulsed fragment on the lateral view radiograph. ——Type I: minimal displacement ( 4–6 weeks) or multiple concussions should follow an individualized RTP program (typically > 5 days) under the direction of a physician with expertise in concussion management.

Expected Outcomes/Prognosis

•• Most people who sustain a concussion will have a complete recovery with no permanent or residual deficits or changes in mental health.

•• Research shows that the pediatric and adolescent population takes longer to

recover than adults, with 10% to 20% of adolescents taking more than 1 month to fully recover.

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•• There is no way to predict duration of symptoms based on number or types of

symptoms or mechanism of injury; however, studies have shown that patients with a higher symptom burden early in the course of their injury as well as those with vestibuloocular findings on physical examination are more likely to require more than 1 month to recover. •• People with a history of concussion, attention-deficit/hyperactivity disorder (ADHD), learning disabilities, and mental health disorders may take longer to recover. •• People with a personal or family history of migraine headaches are also at risk for prolonged symptoms, especially headaches. •• Studies indicate that a history of concussion is associated with a higher risk of subsequent concussion. •• “Postconcussion syndrome” is a term that historically was used to describe the persistence of symptoms such as headaches, cognitive impairment, sleep disturbances, and emotional or behavioral problems beyond 6 weeks after the injury. However, the newer terminology is persistent concussion symptoms or persisting symptoms after concussion, and the current cutoff is 4 weeks (rather than 6 weeks). Adolescents have a higher risk of persisting symptoms compared with all other age groups. •• Second impact syndrome, a rare but devastating problem that occurs only in young athletes, occurs when an athlete who recently sustained a concussion and is still symptomatic returns to play and sustains another blow to the head. This triggers rapid and massive brain swelling that is often fatal. •• Retirement from high-risk and contact sports is a difficult issue and should be managed by a concussion specialist. There is no “magic number” of concussions that indicates retirement. Retirement should be considered ——If any structural brain abnormalities are found during management ——If post-traumatic seizure disorder develops ——After multiple concussions during a short time span ——If the force needed to cause a concussion is decreasing with each subsequent injury (decreased concussion threshold) ——When recovery time is longer for each concussion ——For prolonged recovery or postconcussion syndrome ——For any concussion that causes residual impairment, such as chronic headaches or loss of academic functioning/cognitive abilities ——If athlete or family has lost desire to return to play

Prevention

•• There are no effective measures for primary prevention of a concussion, but the risk of prolonged symptoms or complications during recovery can be reduced (secondary prevention) by prompt and appropriate management, which starts with the athlete immediately reporting a potential injury and prompt removal from play. •• Improving concussion awareness and recognition may be achieved through education at all levels (ie, athlete, parent, coach, teacher, physician). •• Injured athletes should seek out medical care for appropriate diagnosis and treatment. Encourage faithful adherence to treatment.



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•• Proper techniques for tackling and checking in contact sports should be taught to all athletes.

•• Rules of the game should be strictly enforced. Officials should call appropriate

penalties to improve safety and reduce illegal and high-risk contact. Governing bodies for sport may change rules to improve player safety. •• There is no “best known age” for when contact sports should be started. •• Safety equipment must fit properly and be worn appropriately. ——There is no good evidence that mouth guards decrease concussion rates. ——There is no solid evidence that soccer headgear or a Q-collar (Q30 Innovations, Westport, CT) reduces concussion risk. ——Helmets were created to prevent skull fractures. There is no evidence that the newer helmet designs decrease the risk of concussion. ——Helmets should be reconditioned as indicated by the manufacturer. Any helmet older than 10 years should no longer be used. Helmet adornments or external helmet “add-ons” should not be used. •• There is no solid evidence that nutritional supplements reduce concussion risk or speed concussion recovery. •• Although some experts believe neck muscle strengthening can help stabilize the head and reduce concussion risk, there is no solid evidence that it is helpful.

When to Refer

•• All children and adolescents with a possible concussion should be evaluated by a health care professional with expertise in concussion management.

•• This should happen in the first several days following a concussion, and sooner if concerning symptoms are present.

•• Immediate transport by ambulance to the emergency department should occur

if the child or adolescent has any signs of possible skull fracture or intracranial hemorrhage (Box 36-1), significant neck pain, persisting drowsiness or confusion, slurred speech, or significant behavior changes. •• A concussion specialist may be helpful for children and adolescents with symptoms lasting longer than 2 to 3 weeks or if the symptoms are unusual or difficult to manage. •• Ideally, a concussion specialist should manage patients with a previous history of concussion, headache disorder, ADHD, depression, anxiety disorder, sleep disorder, or other neurologic/psychiatric disorders that are associated with a more complex or prolonged recovery. •• A concussion specialist should be involved in discussions and decisions regarding retirement from contact sports.

Resources for Families and Health Care Professionals

•• Brain Injury Association (https://www.biausa.org/brain-injury/about-brain-injury/ concussion)

•• Centers for Disease Control and Prevention toolkit: “Heads Up” (www.cdc.gov/ HeadsUp/index.html)

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•• National Federation of State High School Associations free webinar: “Concussion in Sports” (https://nfhslearn.com/courses/concussion-in-sports-2)

•• State Interscholastic Athletic Association with a Sports Medicine Advisory Committee (available in most states)

•• American Academy of Pediatrics Policy Statement: Returning to

Learning Following a Concussion (https://pediatrics.aappublications.org/ content/132/5/948) •• American Academy of Pediatrics Policy Statement: Sport-Related Concussion in Children and Adolescents (https://pediatrics.aappublications.org/content/142/6/ e20183074)

CHAPTER 37

Pediatric Athletes With Disabilities Types of Disabilities

•• Physical disabilities affect physical functioning, for example, spinal cord injury or amputation.

•• Intellectual disabilities affect intellectual functioning and adaptive behavior,

for example, intellectual disability associated with Down syndrome or fragile X syndrome. •• Other conditions affect sensory systems, for example, blindness or low vision affecting vision or deafness or hard of hearing affecting hearing.

Social Versus Medical Model of Disability

•• Medical model of disability focuses on the disability itself from a medicalized approach and is now outdated.

•• Biopsychosocial model of disability (“International Classification of Functioning,

Disability and Health,” published by the World Health Organization) focuses on an individual’s level of health, emphasizing how the health condition interacts with environmental factors, personal factors, participation, body functions, and structure to affect the individual’s overall health and quality of life, rather than focusing on the health condition alone. •• Using this framework, the health care professional can help improve quality of life for children with underlying health conditions by working on various factors, including environmental factors such as access to adaptive physical activity programs.

Physical Activity Guidelines

•• As they are able, youth with disabilities should meet the same guidelines for

physical activity as youth without disabilities (eg, 60 minutes per day of moderate to vigorous aerobic activity). •• Youth with disabilities experience the same health benefits from physical activity as seen in the general population, including improved cardiovascular health, decreased obesity or overweight, and improved mental health. •• Despite this, youth with disabilities tend to be less physically active than youth without disabilities. 389

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•• Youth with disabilities should be encouraged to participate in physical activities. This chapter describes the specific precautions, restrictions, and guidelines that should be followed when counseling youth with specific disabilities and health conditions about safe participation in sports and physical activities.

Sports Participation

•• Children and adolescents with disabilities should be encouraged to participate in organized sports.

•• Sports participation holds many benefits for children and adolescents with

disabilities. ——Physical benefits: improved cardiovascular fitness and decreased systolic blood pressure ——Psychosocial benefits: improved quality of life and socialization •• Participation options ——In the general population, alongside peers who do not have disability, such as the following: „„A child with an upper extremity congenital limb deficiency may play softball one-handed. „„A child with a lower extremity congenital limb deficiency may play baseball using a prosthetic leg. ——Through sports organizations for individuals with disabilities „„Para sports, “sports in parallel,” which are specifically for individuals with physical disabilities or blindness or low vision. ™™ Adaptive sports, such as wheelchair basketball or wheelchair tennis, are included within the term para sports, but are specifically sports that are adapted from general sports. ™™ There are some para sports, such as goalball, that exist only for athletes with disabilities rather than being adapted from general sports. ™™ The most elite level of para sports for people with physical or visual disabilities is the Paralympics, which occurs in parallel to the Summer and Winter Olympics. „„The most elite level of sports for deaf or hard of hearing athletes are the Deaflympics, which are international sporting events that occur as Winter and Summer Games. „„Special Olympics ™™ Large international organization focused on sports and health for individuals with intellectual disabilities. ™™ Sports are from novice to elite level. Divisions are determined by ability level. ™™ Elite competitions occur at the Special Olympics USA Games and Special Olympics World Games. ™™ Unified Sports is a subset of Special Olympics sport competition in which integrated teams composed of athletes with and without intellectual disability compete together on the same team.



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Important Considerations for Some Selected Disabilities SPINAL CORD INJURY

•• Injury to the spinal cord from trauma, infection, inflammation, or tumor that

causes weakness, sensory impairments, neurogenic bowel, neurogenic bladder, and/or thermoregulation impairments. •• Autonomic dysreflexia ——Medical emergency resulting in uninhibited increased blood pressure due to a noxious stimulus below the level of spinal cord injury (Figure 37-1) ——Individuals with spinal cord injury at T6 level or above are at highest risk. ——More common in those with more complete injuries (affecting sacral nerves, resulting in impaired rectal sensation and control) ——Treatment is emergently addressing the noxious stimulus. Sometimes antihypertensive medications are also needed. ——Boosting is when an athlete intentionally creates a noxious stimulus (eg, clamping a Foley catheter) to cause autonomic dysreflexia for the adrenal rush in an effort to enhance performance.

Figure 37-1. Pathophysiology of autonomic dysreflexia. Abbreviation: SCI, spinal cord injury From Dubon ME, Rovito C, Van Zandt DK, Blauwet CA. Youth para and adaptive sports medicine. Curr Phys Med Rehabil Rep. 2019;7:104–115. © 2019. Reprinted with permission from Springer Nature.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide „„Dangerous

practice because autonomic dysreflexia can result in dangerously fast and significant increases in blood pressure that can cause stroke or, in some cases, death „„Banned by sporting organizations •• Sensory impairments: Sensation can be decreased or absent below the level of injury. ——This puts individuals at risk for skin wounds, blisters, and sunburn. ——Important consideration with sports equipment and environment management „„Make sure adequate shade is provided and sunblock is used. „„Important to have custom fit for athlete’s equipment, such as sports wheelchair or sled hockey •• Low bone mineral density: Individuals with decreased weight bearing are at risk for low bone mineral density and pathologic fractures. ——Precautions should be taken to decrease risk, such as proper positioning and support during passive stretching techniques. •• Spasticity: velocity-dependent increase in muscle tone ——May interfere with muscle function, in which case it can be treated with stretching, medications, or procedures (eg, botulinum toxin injections) ——Sometimes, spasticity is not functionally interfering or may even be beneficial (eg, case in which an athlete with lower extremity spasticity has better stability due to spasticity). •• Neurogenic bladder: impaired ability to control how the bladder stores or empties urine ——Typically, individuals with neurogenic bladder due to spinal cord injury require the use of catheterization for bladder emptying. ——These athletes will need to carry supplies with them and may be on a strict schedule, so coaching staff should allow for an individual to take catheterization breaks during practice, games, and tournaments. ——There is an increased risk of urinary tract infections, which may present with different symptoms such as increased autonomic dysreflexia episodes or increased spasticity. •• Neurogenic bowel: impaired ability to control how the bowel empties stool ——Typically, individuals with neurogenic bowel due to spinal cord injury require the use of enteral medications and often suppository, enema, or digital rectal stimulation for bowel emptying. ——The athlete may need to bring bowel program supplies to travel tournaments, especially multiday, out of state tournaments. •• Thermodysregulation: impaired ability to regulate body temperature ——Athletes should be dressed for the weather and take appropriate warming or cooling measures to prevent hyperthermia or hypothermia. „„Warming: Wear appropriate clothing for the climate. „„Cooling: Use cooling mist, take appropriate breaks, maintain hydration, and wear appropriate clothing. CEREBRAL PALSY

•• Cerebral palsy (CP) is a category of permanent neurologic conditions resulting from an injury or insult to the fetal or infant brain that is not progressive and results in motor impairments.



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•• Cognitive impairments, seizures, spasticity, dystonia, and/or low bone mineral density may also occur (see Chapter 61, Cerebral Palsy).

•• Skin breakdown can occur due to decreased mobility, but impaired skin sensation is not classically associated with CP.

•• Some individuals with CP may be at risk for seizures. ——A consensus guideline by the International League Against Epilepsy Task Force on Sports and Epilepsy divides sports into 3 categories based on potential risk of injury or death should a seizure occur (Box 37-1; Table 37-1). „„Group 1 sports: no significant additional risk „„Group 2 sports: moderate risk to the persons with epilepsy but not to bystanders „„Group 3 sports: high risk for persons with epilepsy and, for some sports, also for bystanders

Box 37-1. Categorization of Sports by Level of Risk of Injury or Death for Persons With Epilepsy, or for Bystanders, Should a Seizure Occur During the Event Group 1 sports (no significant additional risk) • Bowling • Most collective contact sports (eg, judo, wrestling) • Collective sports on the ground (eg, baseball, basketball, cricket, field hockey, American tackle football, soccer, rugby, volleyball) • Cross-country skiing • Curling • Dancing • Golf • Racquet sports (eg, squash, table tennis, tennis) • Track and field (except for sports listed under group 2)

Group 2 sports (moderate risks to the PWE but not to bystanders) • Alpine skiing • Archery • Biathlon, triathlon, modern pentathlon • Canoeing • Collective contact sports involving potentially serious injury (eg, boxing, karate) • Cycling • Fencing • Gymnastics • Horse riding (eg, Olympic equestrian events [dressage, eventing, show jumping]) • Ice hockey • Shooting • Skateboarding • Skating

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Box 37-1. Categorization of Sports by Level of Risk of Injury or Death for Persons With Epilepsy, or for Bystanders, Should a Seizure Occur During the Event, continued • Snowboarding • Swimming • Track and field (pole vault) • Water skiing • Weightlifting

Group 3 sports (high risk for PWE, and, for some sports, also for bystanders) • Aviation • Climbing • Diving (platform, springboard) • Horse racing (competitive) • Motor sports • Parachuting (and similar sports) • Rodeo • Scuba diving • Ski jumping • Solitary sailing • Surfing, windsurfing Abbreviation: PWE, persons with epilepsy. Adapted from Capovilla G, Kaufman KR, Perucca E, Moshé SL, Arida RM. Epilepsy, seizures, physical exercise, and sports: A report from the ILAE Task Force on Sports and Epilepsy. Epilepsia. 2015;57(1):6–12.

•• Cervical spinal stenosis can be seen in adults with CP who have athetosis. ——Neck pain and neurologic changes should prompt further evaluation and referral to a specialist prior to clearance for sport.

BRAIN INJURY

•• Injury to the brain may occur from trauma, infection, inflammation, or tumor

resulting in cognitive impairments, weakness, impaired sensation, vision loss, hearing loss, spasticity, and/or movement disorders. •• Concussion is considered a mild traumatic brain injury and is covered in Chapter 36, Sports-Related Concussion. •• The following information pertains to complicated mild, moderate, or severe brain injury with imaging findings. ——Specialist clearance should be sought for sports participation after complicated mild, moderate, or severe brain injury with imaging findings. ——Some individuals with brain injury may be at risk for seizures (see Box 37-1; Table 37-1). ——Some individuals with brain injury may have spasticity, which may or may not be functionally interfering.

Epilepsy Resolved (no seizures > 10 y and off AED > 5 y)

Sports Group

≥1 Symptomatic Seizure

Single Unprovoked Seizure

Seizure Free (≥12 mo)

Sleep-related Seizures Only

Seizures Without Impaired Awareness

1

Permitted

Permitted

Permitted

Permitted

Permitted

Permitted at neurologist’s discretion; applies when seizures are precipitated by specific activities

Permitted

Permitted at neurologist’s discretion; applies when seizures are precipitated by specific activities

2

Permitted at neurologist’s discretion, with restrictions

Permitted after 12 mo seizure freea

Permitted

Permitted at neurologist’s discretion, with restrictions

Permitted at neurologist’s discretion, with restrictions

Permitted at neurologist’s discretion, with restrictions

Permitted

Permitted after appropriate periods following AED cessationa

3

Permitted at neurologist’s discretion, with restrictions

Permitted after 12 mo seizure freea

Permitted

Generally barred, but may be considered, with restrictions, at neurologist’s discretion, for sports posing no risk to bystanders

Generally barred, but may be considered, with restrictions, at neurologist’s discretion, for sports posing no risk to bystanders

Generally barred, but may be considered, with restrictions, at neurologist’s discretion for sports posing no risk to bystanders

Permitted

Permitted after appropriate periods following AED cessationa

Seizures With Impaired Awareness



Table 37-1. Suggested Physical Activities or Sports Participation for Persons With Epilepsy or Other Seizure Disorders

Medication Withdrawal Chapter 37: Pediatric Athletes With Disabilities 395

Abbreviation: AED, antiepileptic drug. a Sports for which earlier permission may apply based on the neurologist’s discretion. The latter includes, in addition to informed consent, (1) evaluation of specific clinical aspects and risks related to the specific sport activity and (2) feasibility of medical surveillance and appropriate supervision during the activity. Adapted from Capovilla G, Kaufman KR, Perucca E, Moshé SL, Arida RM. Epilepsy, seizures, physical exercise, and sports: A report from the ILAE Task Force on Sports and Epilepsy. Epilepsia. 2015;57(1):6–12.

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——Some individuals with brain injury may have sensory impairments, which may increase their risk of skin breakdown or blistering.

MYELOMENINGOCELE (SPINA BIFIDA)

•• Neural tube defect that can result in weakness, sensory impairments, neurogenic

bladder, neurogenic bowel, hydrocephalus (often requiring a shunt), tethered cord, Chiari malformation, and/or cognitive impairments (see Chapter 62, Myelomeningocele [Spina Bifida]) •• Some individuals with brain injury may have sensory impairments, which may increase their risk of skin breakdown or blistering. •• Individuals with spina bifida with decreased weight bearing may have low bone mineral density and be at risk for pathologic fracture. •• Youth with spina bifida may have neurogenic bowel, which may require a bowel program such as an enema for management. Coordination of this plan for a youth athlete on a tournament trip may need to be planned in advance. •• Youth with spina bifida may have neurogenic bladder requiring catheterization. For the athlete’s safety, consideration of catherization timing will be important to factor in to tournaments or longer sporting events. •• Chiari malformation: anatomic defect resulting in cerebellar tonsillar downward displacement through the foramen magnum. ——While in other athletes neurologic changes or headache would prompt evaluation for head injury or neck injury, in youth with spina bifida complications of Chiari malformation, including progressive herniation, should also be considered in the differential diagnosis. ——Patients with Chiari malformation should consult their neurosurgeon for discussion of clearance and/or precautions for specific sports. •• Hydrocephalus: increased cerebrospinal fluid accumulation in the brain that may require a shunt ——While in other athletes neurologic changes or headache would prompt evaluation for head injury or neck injury, in youth with a history of hydrocephalus and shunt, shunt malfunction should also be in the differential diagnosis. ——Patients with hydrocephalus should consult their neurosurgeon for discussion of clearance and/or precautions for specific sports. •• Latex allergy: Latex allergy is associated with spina bifida. ——Latex-free sporting and medical equipment will be needed in these cases. ——Consider epinephrine auto-injectors at sidelines for these and other allergies. LIMB DEFICIENCIES/AMPUTATIONS

•• Children may be born with congenital limb deficiencies (absence of part of a

limb) or may acquire an amputation due to trauma, tumor, infection, or other causes. •• These children may use a prosthetic device for ambulation and may have an additional specific prosthesis for sports. •• Potential concerns for athletes with limb deficiencies or amputations



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——Appositional terminal overgrowth: excess bone growth at the amputation in skeletally immature children

——Pain, wounds, or skin breakdown at the terminal end of the limb may be due

to sharp “penciling” of appositional terminal overgrowth and/or a poorly fitting prosthesis. ——Phantom limb pain: pain in the region where the limb is missing, which can occur after amputation „„Treated with desensitization therapy, neuropathic pain medications, and/or peripheral nerve blockade „„May affect comfort and tolerance of sport prosthesis •• For more elite competitions, there may be specific regulations for the type of prosthesis being used, so athletes and physicians should check with the individual sporting organization for additional information. ACHONDROPLASIA

•• Specific genetic condition resulting in short stature (see Chapter 72, Achondroplasia)

•• The main concern related to sports participation is narrowing of the foramen

magnum, which can increase the risk of cervical myelopathy. ——Neurologic screening should be performed to evaluate for neurologic changes, such as changes in strength or sensation. ——Collision sports, gymnastics, and headers in soccer should be avoided.

DUCHENNE MUSCULAR DYSTROPHY

•• The most common form of muscular dystrophy, which is X-linked and results in

an absence of muscle dystrophin, resulting in progressive weakness (see Chapter 63, Neurodegenerative Disorders). •• Generally, low-intensity exercise is preferred. Traditionally, eccentric exercise (eg, the downward movement of squats or repeated stepping down motion from a step) is avoided to prevent muscle damage. DOWN SYNDROME

•• See Chapter 73, Down Syndrome, for a full discussion. DEAFNESS OR HARD OF HEARING: CONGENITAL OR ACQUIRED

•• Other comorbidities may exist, so it is important to know about an athlete’s medical history and comorbid conditions.

•• May use American Sign Language for communication •• May have cochlear implants or hearing aids ——These and the surrounding body area should be checked for damage after any contact or collision injury.

•• While many athletes with deafness or hard of hearing may participate in general sporting programs, there are sporting organizations that are specifically tailored to deaf or hard of hearing athletes; for example, USA Deaf Sports (https:// usdeafsports.org/).

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BLINDNESS OR LOW VISION: CONGENITAL OR ACQUIRED

•• Other comorbidities may exist, so it is important to know an athlete’s medical history and comorbid conditions.

•• There are sporting organizations with adaptive sports specifically tailored to blind or low vision athletes; recommendations can be found through the United States Association of Blind Athletes (https://www.usaba.org/). •• Recommendation for eye protection in single eye athletes •• Blind or low vision athletes in adaptive sports often wear blacked out goggles to make play more fair.

Preparticipation Medical Screening

•• Preparticipation Physical Evaluation, 5th Edition, published by the American

Academy of Pediatrics, includes medical forms to be used for athletes with disabilities. Some of these forms, including History, Athletes With Disabilities, and Medical Eligibility, are also reproduced in this book, in Chapter 30, Preparticipation Physical Evaluation.

SPECIAL OLYMPICS PREPARTICIPATION SCREENING

•• The Special Olympics provide sports training and competition in a variety

of Olympic-type sports for children and adults with intellectual disabilities. This organization requires a specific Preparticipation Medical Screening Form available at https://media.specialolympics.org/resources/leading-a-program/ registration-forms/SOI_Medical%20Form_US%20Programs_July2017.pdf

Injury Patterns

•• Athletes with physical disabilities ——Limited data are available describing injury patterns in youth athletes with disabilities.

——Adult Paralympics data suggest „„Sprains

or strains and skin lacerations or blisters are common. extremity injuries are more common among wheelchair athletes. ™™ Theoretically, periscapular strengthening and focus on proper wheelchair biomechanics should be encouraged to prevent shoulder injuries in wheelchair athletes; however, more research is needed in this population. „„Lower extremity injuries are more common among ambulatory athletes. —— Pediatric data from 1990 Junior Wheelchair Nationals for track and field and swimming revealed that heat illnesses, soft tissue injuries, and skin injuries were most common. •• Deaf or hard of hearing athletes ——One epidemiology study suggested that there is not an increased risk of concussion among deaf or hard of hearing athletes compared to their peers with normal hearing. „„Upper



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•• Blind or low vision athletes ——Five-a-side football (soccer for blind or low vision athletes) athletes tend to

have more acute than overuse injuries, and more lower extremity than upper extremity injuries. ——There is some concern for proprioception impairments in athletes with blindness or low vision, so proprioception exercises may be helpful for prevention of lower extremity injuries.

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Magrini D, Dahab KS. Musculoskeletal overuse injuries in the pediatric population. Curr Sports Med Rep. 2016;15(6):392–399 Master CL, Master SR, Wiebe DJ, et al. Vision and vestibular system dysfunction predicts prolonged concussion recovery in children. Clin J Sport Med. 2018;28(2):139–145 Master CL, Scheiman M, Gallaway M, et al. Vision diagnoses are common after concussion in adolescents. Clin Pediatr (Phila). 2016;55(3):260–267 McCrory P, Meeuwisse W, Dvorˇák J, et al. Consensus statement on concussion in sport-the 5th international conference on concussion in sport held in Berlin, October 2016. Br J Sports Med. 2017;51(11):838–847 McGinnis KB, Vogel LC, McDonald CM, et al; Shriners Hospitals for Children Task Force on Autonomic Dysreflexia in Children with Spinal Cord Injury. Recognition and management of autonomic dysreflexia in pediatric spinal cord injury. J Spinal Cord Med. 2004;27(suppl 1):S61–S74 Miele VJ, Bailes JE, Martin NA. Participation in contact or collision sports in athletes with epilepsy, genetic risk factors, structural brain lesions, or history of craniotomy. Neurosurg Focus. 2006;21(4):E9 Milewski MD, Nissen CW. Pediatric and adolescent shoulder instability. Clin Sports Med. 2013;32(4):761–779 Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. 2004;364(9448):1885–1895 Mucha A, Collins MW, Elbin RJ, et al. A brief vestibular/ocular motor screening (VOMS) assessment to evaluate concussions: preliminary findings. Am J Sports Med. 2014;42(10):2479–2486 Noonan TJ, Garrett WE Jr. Muscle strain injury: diagnosis and treatment. J Am Acad Orthop Surg. 1999;7(4):262–269 Orchard J, Best TM, Verrall GM. Return to play following muscle strains. Clin J Sport Med. 2005;15(6):436–441 Osorio M, Reyes MR, Massagli TL. Pediatric spinal cord injury. Curr Phys Med Rehabil Rep. 2014;2(3):158–168 Owoeye OBA, Palacios-Derflingher LM, Emery CA. Prevention of ankle sprain injuries in youth soccer and basketball: effectiveness of a neuromuscular training program and examining risk factors. Clin J Sport Med. 2018;28(4):325–331 Ozinga SJ, Linder SM, Koop MM, et al. Normative performance on the balance error scoring system by youth, high school, and collegiate athletes. J Athl Train. 2018;53(7):636–645 Pallis M, Cameron KL, Svoboda SJ, Owens BD. Epidemiology of acromioclavicular joint injury in young athletes. Am J Sports Med. 2012;40(9):2072–2077 Palmer T, Weber KM. The deaf athlete. Curr Sports Med Rep. 2006;5(6):323–326 Palmu S, Kallio PE, Donell ST, Helenius I, Nietosvaara Y. Acute patellar dislocation in children and adolescents: a randomized clinical trial. J Bone Joint Surg Am. 2008;90(3):463–470 Patel NM, Mundluru SN, Beck NA, Ganley TJ. Which factors increase the risk of reoperation after meniscal surgery in children? Orthop J Sports Med. 2019;7(5):2325967119842885 Reid D, Polson K, Johnson L. Acromioclavicular joint separations grades I-III: a review of the literature and development of best practice guidelines. Sports Med. 2012;42(8):681–696 Rivara FP, Tennyson R, Mills B, et al; Four Corners Youth Consortium. Consensus statement on sports-related concussions using a modified Delphi approach. JAMA Pediatr. 2020;174(1):79–85 Rosenbaum P, Paneth N, Leviton A, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl. 2007;109:8–14



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Rossi F, Dragoni S. Acute avulsion fractures of the pelvis in adolescent competitive athletes: prevalence, location and sports distribution of 203 cases collected. Skeletal Radiol. 2001;30(3):127–131 Runciman P, Derman W. Athletes with brain injury: pathophysiologic and medical challenges. Phys Med Rehabil Clin N Am. 2018;29(2):267–281 Saigal R, Hunt Batjer H, Ellenbogen RG, Berger MS. Return to play for neurosurgical patients. World Neurosurg. 2014;82(3-4):485–491 Sailly M, Whiteley R, Read JW, Giuffre B, Johnson A, Hölmich P. Pubic apophysitis: a previously undescribed clinical entity of groin pain in athletes. Br J Sports Med. 2015;49(12):828–834 Schneider DK, Grawe B, Magnussen RA, et al. Outcomes after isolated medial patellofemoral ligament reconstruction for the treatment of recurrent lateral patellar dislocations: a systematic review and meta-analysis. Am J Sports Med. 2016;44(11):2993–3005 Shore BJ, Kramer DE. Management of syndesmotic ankle injuries in children and adolescents. J Pediatr Orthop. 2016;36(suppl 1):S11–S14 Sillanpää P, Mattila VM, Iivonen T, Visuri T, Pihlajamäki H. Incidence and risk factors of acute traumatic primary patellar dislocation. Med Sci Sports Exerc. 2008;40(4):606–611 Singer G, Eberl R, Wegmann H, Marterer R, Kraus T, Sorantin E. Diagnosis and treatment of apophyseal injuries of the pelvis in adolescents. Semin Musculoskelet Radiol. 2014;18(5):498–504 Smith BE, Selfe J, Thacker D, et al. Incidence and prevalence of patellofemoral pain: a systematic review and meta-analysis. PLoS One. 2018;13(1):e0190892 Smith TO, Donell S, Song F, Hing CB. Surgical versus non-surgical interventions for treating patellar dislocation. Cochrane Database Syst Rev. 2015;(2):CD008106 Spencer R, Leach P. Asymptomatic Chiari type I malformation: should patients be advised against participation in contact sports? Br J Neurosurg. 2017;31(4):415–421 Spina Bifida Association. Physical activity guideline. https://www.spinabifidaassociation.org/ resource/physical-activity/. Accessed November 2, 2020 Strahle J, Geh N, Selzer BJ, et al. Sports participation with Chiari I malformation. J Neurosurg Pediatr. 2016;17(4):403–409 Swenson DM, Collins CL, Fields SK, Comstock RD. Epidemiology of U.S. high school sportsrelated ligamentous ankle injuries, 2005/06-2010/11. Clin J Sport Med. 2013;23(3):190–196 Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005;116(3):771–783 Tuakli-Wosornu YA, Derman W. Contemporary medical, scientific & social perspectives on para sport. Phys Med Rehabil Clin N Am. 2018;29(2):xvii–xviii Tuakli-Wosornu YA, Mashkovskiy E, Ottesen T, Gentry M, Jensen D, Webborn N. Acute and chronic musculoskeletal injury in para sport: a critical review. Phys Med Rehabil Clin N Am. 2018;29(2):205–243 US Department of Health and Human Services. Physical Activity Guidelines for Americans. 2nd ed. Washington, DC: US Department of Health and Human Services; 2018. https://health.gov/sites/ default/files/2019-09/Physical_Activity_Guidelines_2nd_edition.pdf Watson L, Balster S, Lenssen R, Hoy G, Pizzari T. The effects of a conservative rehabilitation program for multidirectional instability of the shoulder. J Shoulder Elbow Surg. 2018;27(1): 104–111 Webborn N, Cushman D, Blauwet CA, et al. The epidemiology of injuries in football at the London 2012 Paralympic Games. PM R. 2016;8(6):545–552

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Part 12: Common Fractures and Physeal Injuries TOPICS COVERED 38. Pediatric Trauma Overview ..................................................... 39. Imaging Fractures .................................................................. 40. Fracture Types Overview ......................................................... Plastic Deformation Buckle or Torus Fractures Greenstick Fractures Spiral Fractures Oblique Fractures Transverse Fractures Physeal Fractures (Growth Plate Fractures) 41. Stages of Fracture Healing ...................................................... Inflammatory Phase Reparative Phase Remodeling Phase Healing Fractures Fracture Remodeling Principles 42. Physeal Fractures .................................................................. 43. Bone Health Evaluation in the Child Vulnerable to Fracture ........ 44. Common Fractures of the Upper Extremities ............................ Fractures About the Elbow: General Considerations Supracondylar Elbow Fracture (of the Humerus) Lateral Condyle Elbow Fracture Medial Epicondyle Elbow Fracture Radius and Ulna Shaft Fractures Distal Radius Fractures Buckle (Torus) Fractures Displaced Fractures of the Distal Radius Articular Fractures Scaphoid Fractures 45. Common Fractures of the Lower Extremities ............................. Femoral Shaft Fractures Distal Femoral Physeal Fractures

407 409 411

415

419 425 433

451

405

Proximal Tibial Physeal Fractures Tibial Tubercle Avulsion Fractures Tibial Shaft Fractures Toddler Fracture (Spiral Tibia Fracture in the Toddler) Salter-Harris Type I Distal Fibula Fractures Transitional Ankle Fractures (Juvenile Tillaux, Triplane) Fractures of the Fifth Metatarsal Base 46. Casting and Splinting ............................................................. Fracture Reduction Purpose of Immobilization Choice of Immobilization Materials Application of Plaster or Fiberglass Continued Fracture Care Duration of Wear Complications Return to Play Guidelines 47. Occult Fractures (Injury Not Detected by Radiography) .............. 48. Compartment Syndrome ........................................................ 49. Nonaccidental Trauma ............................................................

406

465

479 483 489

CHAPTER 38

Pediatric Trauma Overview •• Pediatric trauma is the leading cause of death and disability in children in the United States.

•• Annually, 22 million children in the United States require treatment of traumatic

injuries, resulting in 6 million hospitalizations, 16 million outpatient care visits, more than 100,000 permanent disabilities, and 15,000 deaths. •• There is lower mortality among children compared with adult trauma, but children are at greater risk of functional impairment and disability. •• The pediatric trauma rate in the United States is among the highest in the world. •• Direct costs of US pediatric injuries exceed $8 billion per year. •• Many areas of the United States have regionalized trauma care with limited access to pediatric trauma centers. An estimated 17.4 million children do not have access to a pediatric trauma center within 60 minutes of their home. •• Studies have suggested that mortality may increase when patients are treated by surgeons who see fewer than 35 seriously injured patients per year. •• Presence of an in-house pediatric surgeon improves survival rates from trauma. •• Several studies have demonstrated lower severity-adjusted mortality and better functional outcomes at discharge for children treated at pediatric trauma centers and, to a lesser extent, adult trauma centers with additional qualifications in pediatrics. •• In a recent study, musculoskeletal injuries constituted the predominant category of pediatric trauma, representing up to 50% of emergency department consultations. •• Treatment of musculoskeletal trauma is the most likely reason for hospital admission and surgical intervention among children sustaining pediatric trauma. •• Research shows pediatric orthopaedic trauma continues to increase more quickly than population growth, requiring more physician and hospital resources. •• Pediatricians should be vigilant for musculoskeletal trauma as a sign of child abuse. ——Fractures are the second most common injury caused by child physical abuse, after bruises. ——Misdiagnosis is common: up to 20% of fractures in children younger than 3 years may initially be misdiagnosed as noninflicted or attributed to other causes. ——Child physical abuse is the cause of 12% to 20% of fractures in infants and toddlers.

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——It is important to recognize that any fracture, even types that are commonly noninflicted, can be caused by child abuse.

Resource for Physicians

——AAP Policy Statement: Management of Pediatric Trauma. https://pediatrics. aappublications.org/content/138/2/e20161569

CHAPTER 39

Imaging Fractures •• Radiography is the imaging study of choice for pediatric fractures and should be performed first and before any advanced imaging study.

•• For long bone injuries, obtain at least 2 views taken at 90 degrees to each

other and include the joint above and below the site of pain to evaluate for any associated fractures or dislocations (Table 39-1). •• Include clinical information on the requisition, such as patient age, location of pain, and mechanism of injury to assist the radiologist in interpretation. •• Variants of normal anatomy are common. Keats and Anderson’s Atlas of Normal Roentgen Variants That May Simulate Disease can help differentiate an injury from one of these variants.

Table 39-1. Common Radiographic Series to Evaluate Fractures Anatomic Area

Series

Cervical spine

AP/lateral/odontoid

Thoracic spine

AP/lateral

Lumbar spine

AP/lateral/spot L5-S1

Clavicle

AP/cephalic tilt

Ribs

AP/lateral/oblique

Sacrum

AP/lateral

Pelvis

AP/frog lateral

Shoulder

AP/axillary/scapular Y-view

Elbow

AP/lateral/oblique

Wrist

PA/lateral/oblique

Hand

AP/lateral/oblique

Finger

AP/lateral/oblique

Hip

AP/frog lateral

Femur

AP/lateral

Knee

AP/lateral/sunrise/tunnel

Tibia/Fibula

AP/lateral

Ankle

AP/lateral/mortise

Foot

AP/lateral/oblique

Toes

AP/lateral/oblique

Abbreviations: AP, anteroposterior; PA, posteroanterior.

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•• Imaging the contralateral extremity may be helpful in comparing physeal

appearance or differentiating an accessory ossification center from a fracture or an avulsion. •• Radiographic appearance of fractures can be described as displaced versus nondisplaced, translated versus non-translated, and angulated versus non-angulated. •• Some non-displaced fractures (eg, scaphoid, toddler, stress, physeal, epiphyseal, acute posterior rib) may not be visible on radiographs. ——If a fracture is suspected and radiographs are normal, the patient should be treated as if there is a fracture and radiographs repeated in 2 to 3 weeks, when a fracture line or periosteal reaction may become visible. ——If an immediate answer is needed, magnetic resonance imaging is very sensitive and can diagnose or rule out a fracture. •• Computed tomography (CT) is more sensitive than radiography for detecting fractures in spinal or pelvic trauma and may be useful to evaluate displacement if a fracture is intra-articular; chest CT can also identify rib fractures not seen on chest radiographs. However, the increased radiation burden should be carefully considered when weighing the need for CT. •• Children younger than 2 years with fractures suspicious for abuse should undergo a screening skeletal survey; this study may be performed in older children (2–5 years of age) based on clinical suspicion. •• The American College of Radiology has developed specific practice guidelines for skeletal surveys in children: 21 images are obtained, including frontal images of the appendicular skeleton, frontal and lateral views of the axial skeleton, and oblique views of the chest.

CHAPTER 40

Fracture Types Overview Plastic Deformation

•• Instead of incurring a complete or incomplete break or fracture, an immature bone can bend or bow (Figures 40-1 and 40-2).

•• Usually occurs in response to a longitudinally applied force but less commonly

after a transverse blow. Usually found in conjunction with a fracture of the radius or tibia. •• Most commonly occurs in the ulna or fibula •• Remodeling potential is very good in children younger than 6 years. •• A deformity of more than 10 degrees in a child older than 6 years should be reduced.

Buckle or Torus Fractures

•• Commonly occur with a fall onto an outstretched hand •• Occur at the diaphyseal-metaphyseal junction, when denser diaphyseal bone compresses the neighboring softer metaphyseal bone (Figure 40-3).

•• Most common fracture type in children •• Often subtle radiographically; usually non-displaced •• Frequently present without swelling, loss of motion, or much pain •• Delayed presentation is common and does not raise suspicion for abuse.

Figure 40-1. A, Plastic deformation. Anteroposterior view of the distal forearm shows mild ulnar apex angular deformity. The arrow indicates plastic deformation of the distal ulna. B, Lateral view of the distal forearm shows a volar apex angular deformity of the ulna (arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:880. Reproduced with permission.

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Figure 40-2. Clinical (A) and radiographic (B) images of plastic deformation.

Figure 40-3. Torus fracture. A, Anteroposterior view of the distal forearm and wrist shows a torus fracture. The arrow points to buckling of the distal radius in the metaphyseal region. B, Lateral view. Arrows indicate buckling of the distal radius on the metaphyseal region, consistent with a torus fracture. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:891. Reproduced with permission.

Greenstick Fractures

•• Occur in the diaphysis when the cortex on the tension side fails and breaks but the fracture does not propagate through to the opposite cortex (Figure 40-4; see also Figure 44-10, in Chapter 44, Common Fractures of the Upper Extremities). •• May be displaced or non-displaced



Chapter 40: Fracture Types Overview

413

Figure 40-4.Fracture types of long bones in children. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:849. Reproduced with permission.

•• Reduction may be difficult, and sometimes the fracture must be completed to achieve proper anatomic alignment.

Spiral Fractures

•• Spiral appearance of a fracture in the diaphysis •• Spiral fractures are the result of torsional forces and occur in both accidental and nonaccidental injury. A review of the history is necessary to distinguish between

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the two. Long bone fractures in nonambulatory children are highly specific for abuse. •• May be displaced or non-displaced

Oblique Fractures

•• Occur diagonally at the diaphysis •• Usually associated with periosteal disruption •• Because of the slope and loss of periosteum, are often difficult to keep in proper alignment even after appropriate reduction and immobilization

Transverse Fractures

•• Occur at a right angle to the cortex, usually near the bone mid-shaft •• After closed reduction, can usually be held in position with immobilization

Physeal Fractures (Growth Plate Fractures)

•• Common because the cartilage plate is weaker than the surrounding bone and therefore more susceptible to injury

•• Most commonly classified using the Salter-Harris classification (see Chapter 42, Physeal Fractures, Figure 42-1)

•• Diagnosis and treatment are discussed in detail in Chapter 42, Physeal Fractures.

CHAPTER 41

Stages of Fracture Healing Inflammatory Phase

•• This occurs during approximately the first 10 days after the injury (see Figure 41-1, A).

•• Hematoma forms around and within the broken bone. •• Platelets, inflammatory cells, and chemical mediators released as a result of the hematoma stimulate vascularization and recruit osteoblasts.

•• The disruption of blood vessels at the fracture site results in resorption of the

bony matrix within the fracture site, which causes the fracture to appear more visible on radiographs. Physicians should anticipate this and reassure parents this is a normal phase of fracture healing, even though the fracture on the radiograph may look “worse.” •• The hematoma is subsequently replaced with an interwoven collagen, which will serve as the scaffolding for new bone formation.

Reparative Phase

•• This usually occurs between 10 and 14 days after the injury (see Figure 41-1, B).

•• Enhanced vascularization and the differentiation of mesenchymal cells into cartilage, bone, or fibrous precursors

•• As osteoblasts are recruited, bone mineralization occurs and the healing callus becomes visible on radiographs, usually at 2 to 4 weeks after injury.

•• The reparative phase ends with radiographic union, which is when the radiograph demonstrates visible callus bridging over and filling in the fracture site; this follows clinical healing, which is when the fracture site is no longer painful to palpation. At this point the fracture is stable in that no further displacement (without trauma) is expected; however, the callus is still relatively weak, structurally disorganized, and not functionally ready for any abnormal stresses placed on the bone.

Remodeling Phase

•• Lengthiest phase of fracture healing; can continue for years (see Figure 41-1, C). •• Healing bone gradually returns to its pre-injury shape and strength. •• A protective splint or cast is advised in the early follow-up period.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 41-1. Phases of secondary fracture healing. A, Early inflammatory phase. B, Callus formation. C, New bone formation, with remodeling of bone to original shape. From Sullivan JA, Anderson SJ, eds. Care of the Young Athlete. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2000:253. Reproduced with permission.

Healing Fractures

•• Fractures heal more rapidly in children because of the following factors: ——Skeletally immature bone is more biologically active than adult bone. ——Children have a more rapid and pronounced inflammatory response. ——Children have a thicker, stronger, more anatomically distinct periosteum. „„Acts

as a restraint for displacement, which allows the bony bridge to form more rapidly and efficiently „„Contains the hematoma so the biologically active cells and chemical mediators can work locally at the fracture site „„Has osteogenic potential and can augment bone formation taking place in the hematoma

Fracture Remodeling Principles

•• Amount of potential remodeling depends on age, fracture type, and anatomic

location. ——Age „„In patients younger than 5 years, mild or moderate degrees of angulation in a long bone fracture may be acceptable; in an adolescent with 1 to 2 years



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of growth potential, less angulation is acceptable. The amount of acceptable angulation is increased in the metaphysis compared to the diaphysis. Adults require alignment to maximize cosmetic and functional outcome. „„Patients with wide-open physes, pre-menarchal girls, and boys without secondary sex characteristics have more remodeling potential than older adolescents. „„Children remodel varus or valgus (frontal plane) angulation better than older adolescents and adults. „„Children younger than 10 years usually remodel well if there is at least 50% apposition. ——Fracture type „„Low-energy Salter-Harris type I and II injuries generally remodel well. „„Injuries involving the articular surface (Salter-Harris types III and IV) will not remodel well if there is significant displacement, and early arthritis is a potential complication. A separation at the articular surface of greater than 2 mm on computed tomography scan usually requires open reduction and internal fixation. „„Diaphyseal fractures have less remodeling potential than metaphyseal fractures. „„Plastic deformation may not remodel well in patients older than 6 years. „„Remodeling potential is greater if the deformity is in the plane of motion of the adjacent joint. „„Rotational deformities do not remodel well. ——Anatomic location „„Clavicle and proximal humerus fractures have great remodeling potential. „„Toddler fractures (spiral fractures of the tibia in children 1–3 years of age) have great remodeling potential. „„The distal radius can remodel angulation of up to 30 degrees in young children (Figure 41-2) and complete bayonet apposition (100% displacement or overriding fragments). „„The elbow has poor remodeling potential, especially for uncorrected angulated and displaced supracondylar and lateral condyle fractures, which require operative management for optimal results. „„Forearm shaft fractures also have limited remodeling potential compared to distal forearm fractures. Figure 41-2. Remodeling of distal radius. Reprinted from Trifono A, Arkader A. Both bone forearm fractures. Oper Tech Orthop. 2019;29(1):49–54. © 2019, with permission from Elsevier.

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——Dorsal/volar angulation remodels better than radial/ulnar angulation because of the stress applied to the bone with normal motion.

——Surgery may be indicated in fractures with poor remodeling potential that cannot be adequately reduced or held in anatomic reduction by a cast.

•• Longitudinal bone growth may be stimulated after a fracture, especially in the

femur, such that the bone grows longer than would have occurred without injury; therefore, some overlap of fracture fragments is often desirable to balance this excess growth.

CHAPTER 42

Physeal Fractures Introduction/Etiology/Epidemiology

•• Physes (epiphyseal plates or growth plates) are organized into zones of function, with cartilage cells growing continually on the epiphyseal side and bony replacement occurring on the metaphyseal side at the end of a long bone. •• These zones persist until skeletal maturity when the cartilage of the physis has been completely closed and converted to bone. •• While the physes are open, it is more common for a child to sustain a fracture or an injury through the relatively weaker area of the physis than to sustain a ligamentous injury (sprain) or dislocation of a joint. •• Salter-Harris classification of physeal fractures (Figure 42-1) ——A standard radiographic description or terminology to categorize injuries involving the growth plate. Like all fractures, physeal fractures may be displaced or non-displaced. ——Describes the plane or trajectory of the fracture through the physeal plate ——Has implications for treatment and prognosis of potential growth arrest •• Types ——Salter-Harris type I fracture „„Traverses across the physis without entering the epiphysis or metaphysis „„Accounts for 8% of physeal fractures „„More common in infants and younger children ——Salter-Harris type II fracture „„Extends across the physis for a variable distance and then exits into the metaphysis „„Most common type, representing 73% of physeal fractures „„Usually occurs in children older than 10 years ™™ Common in distal radius; high remodeling potential at the metaphysis ——Salter-Harris type III and IV fractures „„Extend either into the articular surface (type III) or into the articular surface and metaphysis (type IV) „„Account for 6% (type III) and 12% (type IV) of physeal fractures „„Because adequate reduction is necessary for subsequent physeal and articular function, it is important that anatomic reduction is achieved. „„Common about the ankle ——Salter-Harris type V fracture „„A crush injury to the physis often diagnosed retrospectively „„Rare „„High risk of physeal growth arrest is expected

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 42-1. Salter-Harris classification system for epiphyseal fractures. Type I includes the physis only; type II, physis and metaphysis; type III, through the physis and epiphysis; type IV, through the epiphysis, physis, and metaphysis; type V, impaction or crush. Abbreviations: E, epiphysis; M, metaphysis; ME, metaphysis and epiphysis. From Metzl JD. Sports Medicine in the Pediatric Office. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

•• Physeal fractures are common and account for 18% to 30% of all fractures in children.

•• Distal radius physeal fractures comprise between 25% and 30% of physeal

fractures, followed by the distal tibia, distal fibula, distal humerus, distal ulna, proximal humerus, and distal femur. •• Physeal fractures are more likely to occur around very rapidly growing physes and during times of rapid growth. •• Physeal injuries occur over the entire span of childhood years, increasing in occurrence with age. •• Highest incidence is in the preadolescent period, with girls peaking at 11 years of age and boys peaking at 12 to 14 years of age. •• The risk of physeal fractures in boys extends longer, consistent with their slower development and later skeletal maturation. •• Fractures through the physis may occur during infancy as birth-related trauma or as a result of abusive trauma (child abuse nonaccidental trauma, or NAT). ——Almost always physeal separations (ie, displaced Salter-Harris type I); metaphyseal corner fractures are unique physeal fractures with a metaphyseal component and signal nonaccidental trauma ——Overall, these are rare injuries, with the most common occurring in the distal humerus and distal femur. ——Diagnosis may be delayed; physeal fractures are underrecognized and can be challenging to differentiate from a developmentally dislocated hip or septic arthritis of the hip.

Signs and Symptoms

•• History of trauma or overuse •• Point tenderness at physis •• Pain with attempted active or passive range of motion of the affected joint



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•• Depending on the severity and chronicity of the injury, there may be swelling, ecchymosis, and deformity of the limb.

•• Infants and younger children will not be able to describe what is hurting them and may only be able to protect the affected limb, limiting use and mobility (pseudoparalysis).

Differential Diagnosis

•• A displaced physeal fracture may be obvious on radiographic examination, except

in infants who have minimal bony ossification of the epiphysis, which makes diagnosis on radiographs challenging. Ultrasonography, magnetic resonance imaging, or arthrography may be helpful in such cases. •• It may be difficult to differentiate a non-displaced physeal fracture from a soft tissue injury or a sprain. ——If the point of maximal tenderness is over a growth plate and radiographic findings are normal, the patient is treated as if there is a non-displaced SalterHarris type I fracture. •• Infection, metabolic disorders, and neoplasm, as well as normal variants in growth patterns, may have radiographic similarities to physeal fractures or injuries.

Diagnostic Considerations

•• Radiographs should include oblique views if no obvious fracture is present on the

anteroposterior and lateral images. ——Some physeal fractures may be difficult to visualize on radiographs because the potentially displaced segment is cartilaginous and radiolucent. ——Non-displaced Salter-Harris type I fractures commonly appear normal on radiographs. ——Radiographs may show adjacent soft tissue swelling or a fat pad sign. •• Computed tomography scans may be helpful for evaluating type III and IV fractures that have extension into the articular surface, to assess the magnitude of articular displacement and aid in surgical planning. •• Magnetic resonance imaging may help to differentiate bony versus soft tissue injury and may identify a subtle, non-displaced injury; however, it is rarely required and should be ordered only after consulting with a pediatric orthopaedic surgeon.

Treatment

•• Displaced growth plate fractures require urgent referral to an orthopaedic

surgeon. If a closed manipulation is required, it should be performed urgently to reduce further trauma to the physis. Reduction beyond 5 days post-injury may lead to further injury of the physis and increased risk of growth arrest. •• Non-displaced fractures should be splinted and the patient made non-weight bearing or placed in a sling until reevaluation by a pediatric orthopaedic surgeon or pediatric sports medicine physician within 10 to 14 days. Referral must be made much earlier (within 5 days) if there is uncertainty regarding displacement.

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•• A non-displaced physeal fracture may not be apparent on the initial radiographs,

despite symptoms and clinical findings that suggest a fracture. ——In such cases, splinting of the limb and non-weight bearing for protection and pain control (non-opioid) is indicated, if symptomatic. ——The patient should be reevaluated by a pediatric orthopaedic surgeon or pediatric sports medicine physician within 10 to 14 days. ——Although rarely required, repeat radiographs in 10 to 14 days may reveal evidence of bony healing, with the appearance of periosteal new bone verifying the diagnosis. •• Fracture management depends on the severity of the injury, location of the injury, and age of the patient. ——Depending on the age of the child, significant potential remodeling may occur and, thus, a less than anatomic reduction may be acceptable. ——As a child gets closer to the age of skeletal maturity, remodeling is less reliable and criteria for acceptable alignment become more stringent. At the same time, as a child approaches skeletal maturity, the consequences of a partial or complete growth arrest become less severe. Hence, informed, evidence-based expert pediatric orthopaedic decision-making is paramount in treating growth plate fractures. ——Surgical intervention is required for treatment of open fractures or for a fracture that cannot be adequately reduced by closed means or reliably held reduced by closed means. ——Open reduction is commonly required for type III and IV fractures to ensure anatomic reduction of the joint surface and physis.

Expected Outcomes/Prognosis

•• Physeal fractures heal more quickly than diaphyseal fractures. •• Most physeal injuries heal without complication. •• Incidence of physeal arrest after physeal fracture is low, ranging from 1% to

6.5%. ——Manifests by formation of bony bar, a bony bridge across some or all of the cartilage of the growth plate (Figure 42-2) ——Cessation of normal growth from the involved physis leads to development of a progressive angular deformity or a limb-length discrepancy. ——Premature cessation of growth depends on several factors, including the location of the fracture, the bone involved, the extent of injury to the physis, and the amount of remaining growth. ——Physeal arrest is most common with fractures of the distal femur, distal tibia, and proximal tibia. ——Partial growth arrest secondary to bony bar formation is most common with type IV fractures. •• Parental and/or physician monitoring should continue over 12 to 24 months. •• Harris growth disturbance lines may be seen during follow-up and may be helpful in early identification of a problem with physeal function (Figure 42-3).



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Figure 42-2. Physeal arrest with bar formation and growth abnormality (arrows) demonstrated on radiograph (A) and magnetic resonance imaging (B). Courtesy of Kristina Kjeldsberg, MD.

Figure 42-3. Harris growth arrest lines (arrows).

•• Complete premature physeal closure cannot be primarily repaired. If the child has

considerable growth remaining, surgical intervention will be required to prevent a significant limb-length discrepancy. ——Treatment might include closure of the contralateral limb physis (ie, epiphysiodesis) or a limb-lengthening procedure. ——For partial premature physeal closure, a physeal bar resection may be attempted. ——A realignment osteotomy to improve angular deformity may be required (combined with an epiphysiodesis procedure to address potential limb-length discrepancy).

When to Refer

•• See “Treatment” section.

CHAPTER 43

Bone Health Evaluation in the Child Vulnerable to Fracture Introduction

•• During childhood, bones go through a unique process of remodeling that is

different from any other phase of growth. ——Remodeling is regulated by local cytokines; by circulating hormones, including parathyroid hormone (PTH), 1,25-dihydroxyvitamin D (1,25-OH2-D), insulin-like growth factor 1 (IGF-1); and by calcitonin ——During adolescence, osteoblasts (involved in bone formation) are more active than osteoclasts (involved in bone resorption), leading to net accrual of bone mass. ——Normal development leads to a 90% increase in bone growth over the first 2 decades after birth and to almost half of adult bone mass accrual in adolescence. •• Peak bone mineralization occurs approximately 1 to 1½ years after the peak in height velocity (Figure 43-1). •• Optimal bone health is achieved with proper nutrition, muscle mass development, and load-bearing activities. A number of variables can interfere with the bone remodeling and growth process during childhood (Figure 43-2).

When to Consider Bone Health Workup

•• Criteria for when to initiate a bone health workup or refer to a bone health specialist are controversial. Box 43-1 lists some considerations.

•• Conditions that affect bone health ——Genetic disorders „„Connective

tissue disorders, such as Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome „„Fibrous dysplasia „„Gaucher disease „„Galactosemia „„Glycogen storage diseases „„Homocystinuria

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BMC TB Velocity Curve Cubic Spline 450 Boys Age of Peak 14.05 409 Peak Value Size Adjusted 394

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BMC TB Velocity in g per year

350

Age PHV 13.44 yrs

Girls Age of Peak 12.54 325 Peak Value Size Adjusted 342

300 Age PHV 11.77 yrs

250

Figure 43-1. A graph of bone mineral accrual in boys and girls. BMC, bone mineral content; PHV, peak height velocity; TB, total bone. Reproduced from Bailey DA, McKay HA, Mirwald RL, Crocker PRE, Faulkner RA. A six-year longitudinal study of the relationship of physical activity to bone mineral accrual in growing children: The University of Saskatchewan Bone Mineral Accrual Study. J Bone Miner Res. 1999;14(10):1672–1679.

200 150 100 50 0 9 10 11 12 13 14 15 16 17 18 19 Age in Years

Full Genetic Potential

Inadequate Environmental Factors 10

Figure 43-2. Bone health over time. Abbreviation: Vit D, vitamin D.

Menopause

20

30

40 AGE

High Fracture Risk 50

60

Reprinted from Heaney RP, Abrams S, DawsonHughes B, et al. Peak bone mass. Osteoporos Int. 2000;11(12):985–1009. © 2000, with permission from Springer Nature.

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HEREDITY EXCERCISE/LOADING CALCIUM & VIT D INTAKE STRUCTURAL ERRORS

Box 43-1. When to Consider Referral to a Bone Health Specialist or Initiating a Bone Health Workupa • Atypical fractures (hip, femoral, or vertebral) • Fractures that occur with minimal trauma or low velocity • History of multiple fractures (>2) a

Workup includes dual-energy x-ray absorptiometry scan and laboratory studies.



Chapter 43: Bone Health Evaluation in the Child Vulnerable to Fracture „„Menkes

427

disease (ie, kinky hair syndrome) imperfecta „„Turner syndrome „„Idiopathic juvenile osteoporosis ——Chronic disease and nutritional deficits „„Anorexia, dysphagia, and failure to thrive are examples of conditions that affect nutritional intake of calcium, magnesium, phosphorus, and vitamin D „„Dairy avoidance due to milk allergy or lactose intolerance may also affect nutritional intake „„Conditions causing intestinal inflammation can limit absorption of minerals (eg, celiac disease, inflammatory bowel disease, colitis, cystic fibrosis) ——Autoimmune and endocrine disorders „„Juvenile idiopathic arthritis, systemic lupus erythematosus, and multiple sclerosis „„Hyperthyroidism, specifically, Graves disease „„Glucocorticoid excess (endogenous or iatrogenic) „„Growth hormone deficiency „„Sex steroid deficiency or resistance „„Type 1 diabetes „„Hyperparathyroidism „„Relative energy deficiency in sport (RED-S) (see Chapter 33, Overuse Injuries) ™™ Previously called female athlete triad, RED-S includes male athletes. ™™ Athlete with disordered eating and suppressed gonadotropic hormones. This is exhibited in females as amenorrhea or oligomenorrhea and decreased bone density. ——Neuromuscular conditions „„Cerebral palsy, muscular dystrophies and spinal muscular atrophy, and paraplegia „„Risks increase with the severity of disease. ——Metabolic bone disease (see Chapter 69, Metabolic Bone Diseases) „„Hypophosphatemic rickets „„Vitamin D deficiency „„Vitamin D resistance „„Hypophosphatasia ——Medications that interfere with bone accrual „„Many anticonvulsants can lower vitamin D levels. Carbamazepine, phenobarbital, and valproic acid are the most frequently implicated. „„Antiretrovirals, specifically efavirenz, may also lower vitamin D levels. „„The progestin-only injectable contraceptive, depot medroxyprogesterone acetate (DMPA), can lead to lower bone mineral density (BMD) in female adolescents, but this is reversible once DMPA is stopped. „„Selective serotonin reuptake inhibitors (SSRIs) and proton pump inhibitors (PPIs) can lower BMD. While the mechanisms by which SSRIs lower BMD are still being studied, PPIs exert their negative effect by reducing the intestinal absorption of calcium. „„Chemotherapeutic agents can decrease bone formation and increase demineralization. „„Radiation can suppress growth hormone. „„Osteogenesis

428

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide „„Corticosteroids

are a commonly implicated class of medications for bone loss. These decrease intestinal absorption of calcium, increase urinary calcium loss, and suppress osteoblasts and bone formation. Prolonged high doses can cause gonadal suppression, which can further decrease bone density. ™™ Prolonged use is considered 3 or more continuous months, or 4 or more short-term treatments in 1 year.

Radiographic Testing to Consider DUAL-ENERGY X-RAY ABSORPTIOMETRY SCAN

•• Depending on manufacturer, dual-energy x-ray absorptiometry (DXA) can be initiated by age 4 or 5 years.

•• Not every facility has pediatric software, so testing should be performed at

a pediatric center or a hospital-based center that has pediatric software and performs scans on children routinely. •• Machines and results are not interchangeable, because different manufacturers use different fan beam accrual techniques and regions of interest, which can affect the ability to compare results. Additionally, each machine is calibrated with its own margin of error. Because of this, tests should be performed on the same machine over time. •• DXA scanners do use ionizing radiation, although at extremely low doses (less than the amount of atmospheric radiation that occurs naturally in a day). The only population that should definitively avoid DXA are those who are pregnant. •• Use sedation for DXA scans as appropriate, weighing the risks associated with sedation with the benefits achieved from the DXA results. •• Who should undergo a DXA scan ——See Box 43-1 for suggested criteria. ——Patients with conditions that affect bone health (listed under When to Consider Bone Health Workup section of this chapter) •• How often DXA should be performed ——Annual screening as indicated ——Can be repeated after 6 months to evaluate the effect of any interventions that were prescribed to increase bone density •• How to order a DXA scan ——Sites measured in pediatrics should be the lumbar spine and total body less head, which is different from adult landmarks of the lumbar spine and hips. ——Hips may be measured in children for whom the technician is unable to scan the lumbar spine (eg, spinal fusion and hardware). „„In children, the hip is less reliable because of variability in positioning and difficulties identifying bony landmarks. ——Some machines and facilities can scan the lateral femur for children who have difficulty being positioned properly (eg, those with cerebral palsy).



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——Body composition analysis is available on DXA scans, so this can be requested if it is important for a particular child.

•• How to interpret DXA results ——DXA scans in pediatrics use Z scores instead of T scores so the child can be

compared to age- and sex-matched norms. These normative ranges are not specific to any particular patient population. ——Because of this normative comparison, there will be difficulties in interpretation for a child who is significantly above or below average in height. If a 15-year-old has the same height, weight, and physiologic development of a 13-year-old, then this child’s bone density will appear below normal when compared to the child’s peers of average height. Height adjustment is needed in these cases. A mathematical formula is available for some machines. ——Normal score is a Z score between −1.0 and +1.0. ——Osteoporosis is diagnosed when a Z score is −2.0 or below and the child has a clinically significant fracture history. ——Osteoporosis in a child can be diagnosed based on nontraumatic compression fracture alone, but additional data from the DXA scan are helpful. ——Vertebral compression fractures can falsely elevate lumbar spine Z scores, so caution should be used when interpreting DXA scans in this setting. ——If a child has experienced fracture and has a Z score between −1.0 and −2.0, the child can still be considered to have decreased bone density for age, depending on the clinical picture.

Laboratory Studies to Consider

•• Bone health panel ——To evaluate for metabolic bone diseases (see Chapter 69, Metabolic Bone Diseases)

——See Box 43–1 for when to consider ordering a bone health panel. ——The bone health panel consists of comprehensive metabolic profile (CMP),

ionized calcium, phosphorus, magnesium, 25-hydroxyvitamin D, PTH, and complete blood cell count (CBC). •• CMP ——To identify any renal or liver insufficiencies ——To note alkaline phosphatase level. Both low and high alkaline phosphatase levels can be linked to underlying bone disorders, including hypophosphatasia (low) and Paget disease (high). •• Ionized calcium ——Should be considered in addition to the calcium level present in the CMP because it represents the active calcium circulating in the bloodstream ——Ionized calcium may be low in some metabolic bone diseases (eg, rickets), but it can also be normal or high and should be interpreted along with the PTH levels. •• Phosphorus and magnesium ——If there is concern for metabolic bone disease or nutritional deficits ——Phosphorus is more likely to be low with metabolic bone disease, such as rickets

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•• Vitamin D ——25-hydroxyvitamin D should be included in a complete bone health workup,

especially when evaluating for rickets, but a 25-hydroxyvitamin D level is sufficient for routine monitoring of vitamin D levels. ——25-hydroxyvitamin D level should be considered in any child with fractures •• CBC ——In a child with multiple fractures, to evaluate for abnormalities related to an underlying malignancy (eg, leukemia) •• PTH (intact serum) ——While primary hyperparathyroidism is extremely rare in pediatrics, secondary abnormalities in the PTH can be seen. •• Erythrocyte sedimentation rate or C-reactive protein level ——Can be considered if there are concerns with underlying inflammatory disease, such as arthritis or inflammatory bowel disease •• Thyroid studies (thyroid-stimulating hormone with free thyroxine) ——If there is a concern for thyroid disease ——Hyperthyroidism and hypothyroidism are both associated with decreased BMD and increased fracture risk, but it is more likely to occur with hyperthyroidism. •• Tissue transglutaminase (TTG immunoglobulin [Ig] A) plus a total IgA ——If there is concern for underlying celiac disease ——Fractures can be the first presentation of celiac disease. ——An elevated TTG is not diagnostic, but it will prompt referral to a gastrointestinal specialist for further evaluation.

Management

•• Management involves treating the underlying condition identified in most cases. •• In cases of primary or secondary osteoporosis in which the condition is worsening and the child is continuing to experience fracture, judicious use of bisphosphonates may be indicated. •• Optimize calcium and vitamin D intake per the recommendations of the American Academy of Pediatrics and the National Academy of Medicine (formerly the Institute of Medicine) (Box 43-2). •• Encourage regular weight-bearing activities. Numerous studies have shown that weight-bearing activities during the peripubertal phase make a longer lasting positive impact on bone density than at any other point in life.

Box 43-2. Calcium and Vitamin D Intake Recommendations From the American Academy of Pediatrics and National Academy of Medicine • Children 0–1 year of age: 200–260 mg of calcium and 400 IU of vitamin D daily • Children 1–8 years of age: 700–1000 mg of calcium and 600 IU of vitamin D daily • Children 9–18 years of age: 1300 mg of calcium and 600 IU of vitamin D daily



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When to Refer

•• See Box 43-1 for suggested guidance on when to refer to a bone health specialist. •• Also refer to a bone health specialist in the following situations: ——If a child has an underlying health issue that places their bones at risk. It is reasonable to refer these children prior to experiencing a fracture in order to focus on prevention. ——If DXA testing was performed ahead of a referral, refer if Z scores are below −1.0. ——If laboratory testing was performed ahead of a referral and no underlying treatable causes were identified, refer.

CHAPTER 44

Common Fractures of the Upper Extremities Fractures About the Elbow: General Considerations

•• Elbow fractures are common injuries in children. •• Most pediatric elbow fractures are sustained by a fall onto an outstretched hand (FOOSH).

•• Most pediatric elbow fractures result from a fall. Physical abuse as a mechanism

may be considered when the child is nonambulatory or there are other indications of child maltreatment. •• Refer every swollen elbow. Referral to a pediatric orthopaedic surgeon is warranted for all suspected and proven pediatric elbow fractures (Box 44-1).

Supracondylar Elbow Fracture (of the Humerus) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• This injury is a fracture of the distal humerus. •• It is the most common and most serious pediatric elbow fracture. •• Supracondylar elbow fracture is typically caused by a FOOSH. •• The average age is between 4 and 8 years, but the injury may occur between

walking age and 12 years of age. The reason for this age distribution is the frequency of falling in addition to the anatomic development of the features of the distal humerus ——During early childhood, the supracondylar region of the elbow is thin (like a wafer) and at risk for fracture at the olecranon fossa.

Box 44-1. Reasons to Refer Every Swollen Elbow to an Orthopaedic Surgeon While not all pediatric elbow injuries are severe, many have the potential for adverse outcomes; therefore, every elbow fracture should be referred to a pediatric orthopaedic surgeon. Because of the difficulty of pediatric elbow injury differential diagnosis, every child with a swollen elbow after trauma should be referred to a pediatric orthopaedic surgeon. 433

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——The olecranon fossa accommodates the proximal end of the ulna—the olecranon—when the elbow is extended.

——Normal childhood ligamentous laxity allows the elbow to hyperextend. When

the child falls onto an outstretched hand, the elbow hyperextends and drives the olecranon into the olecranon fossa, fracturing the thin distal humerus just above the medial and lateral elbow condyles proximal to the elbow joint; hence, the term supracondylar fracture of the humerus.

SIGNS AND SYMPTOMS

•• Parents may incorrectly infer and state that the child “fell on the elbow.” This is true in the rare flexion type of supracondylar fracture.

•• Due to the frequency of falls in toddlers, supracondylar fractures may be unwitnessed in young toddlers who are symptomatic.

•• The fracture is far more likely to have serious neurovascular complications if

the child fell from a height, such as a tree, window, or playground equipment, compared with a slip and fall on level ground. •• Tips for evaluating elbow fractures are shown in Box 44-2. •• Physical examination is necessary to determine the severity and displacement of the fracture. ——Type I fractures: minimal swelling and mild loss of elbow motion ——Type II fractures: moderate swelling, loss of motion, and mild deformity

Box 44-2. Tips for Evaluating Fractures About the Elbow Evaluate the shoulder, wrist, and hand for associated injuries. Concomitant injuries include distal radius and ulna fractures, and proximal humerus or clavicle fractures. In the rare flexion-type supracondylar fracture, there may be scraping or bruising over the posterior olecranon (point of the elbow). Evaluate neurovascular status of the hand, including color, temperature, pulse, capillary refill in the digits, strength, and sensation. Compare with the uninjured side. For the radial nerve, check sensation in the first dorsal web space and ability to actively extend the thumb. For the median nerve, check sensation on the palmar surface of the index finger and active thumb interphalangeal (IP) joint flexion. The anterior interosseous nerve is the most common nerve injured in extension supracondylar humerus fracture. A terminal branch of the median nerve that controls thumb IP and index distal IP flexion, it has no testable sensory component. For the ulnar nerve, check sensation in the palmar tip of the little finger and active abduction of the little finger. — Ability to form a circle with the thumb and index finger (the “O” sign) indicates intact median and ulnar nerve function (Figure 44-1). — In severe fractures there is often immediate bruising and dimpling of the skin in the antecubital fossa where the sharp spike of bone of the proximal fracture fragment impales the deep dermis. The spike may completely penetrate the anterior skin, resulting in an open fracture.



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——Type III fractures: severe pain, rapid swelling, ecchymosis, and major deformity „„Nerve

injuries are common; fortunately, nearly all are neurapraxias (stretch injuries) and resolve spontaneously over several days to months. „„Vascular injuries are less common but can be devastating, resulting in Volkmann ischemic contracture (Figure 44-2). The brachial artery lies directly anterior to the elbow in the antecubital fossa and can be damaged by stretching or direct impalement by a spike of bone.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is established with anteroposterior (AP) and lateral view radiographs of the elbow (Figure 44-3).

•• If the elbow is minimally swollen and gentle positioning is comfortably allowed,

an oblique view is also obtained for evaluating subtle lateral condyle, olecranon, or radial head fracture. Figure 44-1. Clinical examination indicating the “O” sign. The anterior interosseous nerve (a branch of the median nerve) is intact.

Figure 44-2. Volkmann ischemic fracture is caused by damage to the brachial artery.

supracondylar fracture brachial artery

median nerve bone impinging artery & nerve

radius

ulna

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Figure 44-3. Undisplaced olecranon fracture. A, Lateral view of the elbow shows the fracture line beginning at the posterior tip of the olecranon (arrow). B, Anteroposterior view of the elbow shows mild medial displacement of the proximal metaphyseal region of the olecranon (arrows). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:871. Reproduced with permission.

Box 44-3. Modified Gartland Classification of Pediatric Supracondylar Fractures Type I: Fracture is non-displaced or minimally displaced. Only radiographic finding may be a posterior fat pad sign. Type II: Obvious fracture line with displacement, and cortex is still intact. Type III: Fracture is displaced with no cortical contact.

•• If there is an obvious deformity, the child’s arm should not be manipulated or positioned to obtain perfect radiographic views; instead, splint in place.

•• Supracondylar fractures are classified as closed versus open and displaced versus non-displaced using the Gartland classification (Box 44-3).

TREATMENT

•• Type I fractures are treated in a long-arm cast for about 3 weeks. ——Recovery is rapid and full. ——Therapy is not required. •• Type II fractures are most often treated by closed reduction (ie, manipulation)

and percutaneous pinning. ——Reduction is required to prevent cubitus varus (gunstock) deformity (see Chapter 4, Physical Examination, Figure 4-21) and hyperextension with lack of flexion. While this deformity causes little or no dysfunction or pain, parents are often concerned by it.



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Figure 44-4. Displaced supracondylar fracture (arrow) (humerus is outlined). From Sullivan JA, Anderson SJ, eds. Care of the Young Athlete. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2000:317. Reproduced with permission.

——Pinning is a more secure method of maintaining reduction and is safer than casting.

——Mild type II (type IIA) fractures are sometimes treated with casting alone, although this is controversial.

•• Type III fractures require surgical repair with closed reduction and percutaneous

pinning, using fluoroscopy under general anesthesia (Figure 44-4). ——Several recent studies have shown that these fractures may be safely observed in the hospital overnight, allowing for fasting and daytime surgery under better operating conditions. ——Open reduction (ie, incision) is not performed unless the closed reduction is difficult or there is a vascular problem. ——Open fractures are surgically débrided. ——Fasciotomies are performed if there was any significant period of ischemia. ——The immediate postoperative period may be the time of highest risk of ischemia. Tight bandages, tight casts, and hyperflexion of the elbow must be avoided during this period. ——Even with meticulous care, an initially silent intimal tear may later thrombose and obstruct arterial supply to the forearm. Microvascular surgery may be required to repair or apply a vein graft to a brachial artery injury. ——After surgery, the elbow is immobilized for 3 to 4 weeks, followed by removal of the pins in the office without the need for anesthesia. ——Normal range of motion and full activities are restored by 3 months in most cases.

EXPECTED OUTCOMES/PROGNOSIS

•• Results are favorable for all fracture types when adequate reduction is achieved. •• Little if any remodeling can be expected about a distal humerus fracture in a child; therefore, deformity (malalignment) noted shortly after fracture healing will persist.

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•• Unreduced type III fractures invariably lead to cubitus varus. This deformity will not remodel and requires reconstructive osteotomy for correction at a later time.

WHEN TO REFER

•• All supracondylar fractures should be referred to a pediatric orthopaedic surgeon. •• The urgency of orthopaedic evaluation will depend on the severity of the fracture, the comfort of the child, and whether there are associated soft tissue injuries. ——A pulseless extremity or open fracture is an orthopaedic emergency that warrants immediate surgical evaluation. ——A non-displaced fracture that is already several days old may be splinted and seen by an orthopaedic specialist non-urgently.

Lateral Condyle Elbow Fracture INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• This injury encompasses fractures of varying portions of the lateral half of the distal humerus (Figure 44-5).

•• Lateral condyle elbow fractures account for 20% of pediatric elbow fractures •• There are 2 generally accepted mechanisms of injury; both occur with a FOOSH. ——The fracture is avulsed off the distal humerus by a bending varus force as the child falls onto an outstretched hand.

——The radial head impacts the lateral condyle when an axial force is applied to a partially flexed elbow.

•• The large portion of cartilage and small sliver of attached bone makes lateral condyle fractures difficult to diagnose and heal. Cartilage is radiographically invisible and does not easily heal to adjacent cartilage, even if rigidly fixed.

SIGNS AND SYMPTOMS

•• Non-displaced fractures manifest with minimal lateral soft tissue swelling, tenderness, and no deformity.

•• Grossly displaced and rotated fracture fragments manifest with severe swelling and bruising.

Figure 44-5. Distal humerus fracture patterns, including transphyseal fracture (A), supracondylar fracture (B), lateral condyle fracture (C), and medial epicondyle fracture (D). Also shown is the capitellar ossification center (E). From Huurman WW, Ginsburg GM. Musculoskeletal injury in children. Pediatr Rev. 1997;18(12):429–440.



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•• Lateral condyle elbow fracture is rarely associated with nerve and vascular problems because the elbow soft tissue envelope is mostly intact.

•• Radial nerve injuries and compartment syndromes can occur, so careful evaluation is always required (see Box 44-2).

DIAGNOSTIC CONSIDERATIONS

•• In an older child with a grossly displaced fracture, AP and lateral view radiographs of the elbow will reveal the fracture.

•• In a young child with a non-displaced or minimally displaced fracture, the only

radiographic finding may be a fat pad sign. A posterior fat pad indicates an occult fracture. Incidence of occult fracture with posterior fat pad is 76%, of which half will be supracondylar humerus fracture. A fat pad sign following trauma, despite the absence of a clear fracture line, indicates a probable fracture. •• An internal oblique view of the elbow is obtained when AP and lateral views do not show a fracture but there is clinical suspicion or a fat pad sign. TREATMENT

•• Non-displaced fractures are casted for several weeks with the elbow at 90 degrees and the forearm supinated to decrease distraction at the fracture site.

•• Minimally displaced fractures may be casted or percutaneously pinned. •• Displaced fractures (> 2 mm displacement) require open reduction and internal fixation with pinning.

EXPECTED OUTCOMES/PROGNOSIS

•• With proper treatment, results are generally favorable. •• Adequate reduction is essential, as nonunion and malunion may occur, even with minimally displaced fractures.

•• Because of their frequent subtle clinical and radiographic presentation, lateral

condyle fractures may be misdiagnosed as contusions, sprains, or pulled elbows, or they may be undertreated with a splint or cast when surgery is indicated. They may manifest years later with progressive elbow deformity, limitation of motion, and tardy ulnar nerve palsy. ——Tardy ulnar nerve palsy is caused by tension and tethering of the nerve in the cubital tunnel caused by elbow deformity. It is manifested by numbness and tingling in the ulnar nerve distribution of the hand and clawing of the little and ring fingers. ——Not all such fractures require surgery. Factors to consider are age of the child, stable versus progressive deformity, limitations of motion, pain, athletic or occupational pursuits, and tardy ulnar nerve palsy. ——Elbow deformity surgery is challenging and may involve osteotomy of the humerus, nerve transfer, and grafting or fixation of the nonunion site.

WHEN TO REFER

•• Refer all suspected pediatric elbow fractures to an orthopaedic surgeon within several days. Refer suspected compartment syndrome, open fracture, and ischemia emergently.

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Medial Epicondyle Elbow Fracture INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A medial epicondyle elbow fracture is an avulsion of the medial epicondyle from the distal humerus, through the medial epiphyseal growth plate.

•• This injury accounts for 5% to 10% of all pediatric elbow fractures. •• It is most common between 9 and 14 years of age. •• It is more common in boys than in girls. •• Up to 50% are associated with elbow dislocation, which may be transient and unrecognized.

•• Common mechanisms ——A FOOSH with valgus stress applied to the elbow ——Sudden, forceful contraction of the flexor or pronator muscle group that originates from the medial epicondyle

——Chronic forms of this fracture occur with repetitive stress from pitching, as seen in Little League elbow (see Chapter 33, Overuse Injuries).

——Acute-on-chronic fractures may also occur. SIGNS AND SYMPTOMS

•• Swelling, bruising, and tenderness of the medial elbow with limited elbow motion •• The ulnar nerve, because of its proximity to the medial epicondyle, may be

injured, causing painful paresthesias or numbness along the medial forearm into the fourth and fifth fingers. •• If elbow motion is greatly limited, entrapment of the medial epicondyle within the elbow joint must be considered. •• If the elbow is dislocated, there will be an obvious painful deformity. •• If there was a transient subluxation or dislocation with spontaneous relocation (common), there will be considerable swelling of the entire elbow and laxity with valgus stress testing of the elbow, indicating additional injury to capsular and ligamentous structures. DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined via AP and lateral view radiographs of the elbow. ——In non-displaced fractures, the AP view radiograph will show some mild medial soft tissue swelling and slight widening of the medial epiphyseal growth plate when compared with the uninjured elbow. ——In displaced fractures, there is more soft tissue swelling and the fragment is clearly displaced medially and distally (Figure 44-6). ——If the fragment is not clearly seen, consider intra-articular entrapment.

TREATMENT

•• Treatment is controversial and depends on degree of displacement, associated elbow instability, intended sports participation, and handedness.

•• Most patients are treated nonoperatively, with less than 3 weeks of immobilization in a long-arm cast or splint followed by 4 to 6 weeks of home or formal therapy for motion and strengthening.



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Figure 44-6. Displaced fracture of the medial epicondyle (arrow). From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1110. Reproduced with permission.

•• Indications for surgical fixation are ——Changing; there is little consensus on extent of displacement as indication for surgery

——Fracture fragment entrapped within the joint ——Ulnar neuropathy ——Valgus instability

•• Displaced fractures (> 5 mm) in the throwing arm of athletes or in gymnasts are more likely to undergo internal fixation with a screw.

EXPECTED OUTCOMES/PROGNOSIS

•• Non-displaced fractures have excellent outcomes with good elbow function and little or no elbow instability.

•• Displaced fractures treated nonoperatively can also have good outcomes, despite healing via fibrous union.

•• Outcome after surgical fixation is generally good but depends on the accuracy

of the reduction and stability of the fixation. Potential long-term complications include chronic pain, instability, loss of motion, or ulnar neuropathy. Internal fixation devices (eg, screw) may be irritating and require removal once the fracture is healed.

WHEN TO REFER

•• Refer to an orthopaedic surgeon within several days all suspected medial epicondyle fractures, but especially ——Displaced fractures ——Intra-articular entrapment ——Associated instability ——Ulnar nerve involvement

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Radius and Ulna Shaft Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Radius and ulna shaft fractures are usually FOOSH injuries, but sometimes may be caused by a direct blow or bending force

•• One or both bones may be fractured •• Look very carefully for pinpoint dermal puncture, which indicates an open

fracture where a sharp spike of bone transiently exited skin—it may have impaled debris (Figure 44-7) •• Monteggia fracture types: A Monteggia fracture/dislocation is a commonly missed severe pediatric orthopaedic forearm injury (Figure 44-8). The presence of an isolated ulna fracture requires assessment of the radiocapitellar joint. •• High-energy injuries are more likely to be associated with compartment syndrome and neurovascular injury. •• Perform a careful neurovascular examination of the hand. SIGNS AND SYMPTOMS

•• Swelling, pain, and tenderness between wrist and elbow •• Deformity if the fracture is angulated or displaced •• Wound if an open fracture •• The ulna fracture may mask any symptoms of a dislocated radiocapitellar joint in a Monteggia injury.

Figure 44-7. Pinpoint dermal puncture indicating an open fracture of the radial and ulnar shaft.

Figure 44-8. Missed Monteggia fracture. Note greenstick ulna fracture and dislocated radial head.



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DIAGNOSTIC CONSIDERATIONS

•• Obtain AP and lateral view radiographs of the entire forearm, including the wrist and elbow.

•• If the radiograph shows one or both bones are broken and angulated and

non-displaced, then this fracture is labeled a greenstick fracture (Figures 44-9 and 44-10). •• Look for malalignment of the radiocapitellar joint (Monteggia fracture/ dislocation). •• Maintain high suspicion for Monteggia variant when an isolated fracture of the ulnar shaft is seen. Consider dedicated AP and lateral views of the elbow. TREATMENT

•• Treatment depends on fracture displacement, angulation, age of patient, and whether the fracture is a Monteggia or Galeazzi variant.

•• Most isolated closed shaft fractures can be manipulated and splinted with a sugar tong or long-arm posterior splint, followed by casting after several days.

INDICATIONS FOR SURGERY

•• Open fracture (exception: some fractures 10 days after injury) may require up to 10 weeks of immobilization.

•• Displaced fractures are managed with surgical open reduction and internal fixation because of the risk of nonunion and osteonecrosis.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• Because of the importance and fragility of the scaphoid and the possibility of

long-term disability, orthopaedic specialists are more reluctant to allow sports participation by children casted for scaphoid fractures than for greenstick or buckle fractures.

WHEN TO REFER

•• Refer all scaphoid fractures to an orthopaedic surgeon. These injuries are not emergent unless carpal dislocation is also present (transscaphoid perilunate fracture-dislocation).

EXPECTED OUTCOMES/PROGNOSIS

•• The scaphoid is particularly prone to nonunion and osteonecrosis because of its fragile blood supply.

•• Most pediatric scaphoid fractures heal easily, with full return to normal function if diagnosed and treated early.

CHAPTER 45

Common Fractures of the Lower Extremities Femoral Shaft Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Femoral shaft fractures account for 1.4% to 1.7% of all pediatric fractures. •• Incidence is highest between 2 and 3 years of age and in mid-adolescence •• Incidence is 2.6 times higher in boys than in girls •• The most common mechanism in early childhood is a fall. •• The most common mechanisms in adolescence are sports and motor vehicle accidents.

•• In preambulatory children and infants, femoral shaft fractures are commonly

caused by intentional trauma (nonaccidental). After walking age, most are accidental. Nonaccidental trauma must be carefully considered in the differential diagnosis up to age 3 years. •• Pathologic fractures can occur with osteogenesis imperfecta, tumor, infection, or osteopenia. SIGNS AND SYMPTOMS

•• Thigh pain, swelling, deformity, limb shortening, and inability to bear weight after acute trauma

•• Can be associated with significant bleeding within the thigh, although unlike in adults, the need for blood replacement is rare

DIAGNOSTIC CONSIDERATIONS

•• Anteroposterior (AP) and lateral radiographs of the femur that include the hip and knee joints are sufficient to establish the diagnosis (Figure 45-1).

TREATMENT

•• Treatment depends on the age and size of the patient. •• Infants are treated with a single-leg spica cast or soft spica (ie, thick cotton roll

padding without plaster or fiberglass) for 4 weeks. Up to 45 degrees of angulation is acceptable, given the capacity for remodeling.

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Figure 45-1. A, Anteroposterior view of the femur in a young (aged 2 to 4 years) child shows a spiral fracture of the distal third of the femur with mild lateral displacement (arrows). B, Lateral view of the femur in the same patient shown in A shows a spiral fracture of the distal third of the femur with mild anterior displacement (arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:863. Reproduced with permission.

•• Children 5 years and younger are most commonly treated with intraoperative closed reduction and spica casting for up to 6 weeks.

•• Children between 6 and 10 years of age may be treated in a variety of ways,

including immobilization in a spica cast for 8 weeks, although the current preferred method is flexible intramedullary nail fixation. •• Larger patients and young adults ——Because of greater risk for complications such as loss of fracture position with the flexible nail, rigid intramedullary rod fixation is often used. ——The “adult” piriformis fossa technique for inserting a rigid nail carries a risk of osteonecrosis. Patients with open growth plates are treated with insertion of a rigid nail through a special “lateral entry.” ——Alternative methods of treatment include submuscular plates and external fixation.



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EXPECTED OUTCOMES/PROGNOSIS

•• Most femoral shaft fractures heal well without complications or long-term disability.

•• Potential complications include angular and rotational deformities, nonunion

(rare), infection, muscle weakness, and leg-length discrepancy (most common). ——In children between 2 and 10 years of age, leg-length discrepancy most commonly results from overgrowth of the injured side caused by growth acceleration. ——Patients older than 10 years are more likely to have shortening of the injured side. ——Patients with leg-length discrepancy less than 2 cm generally notice no alteration in their stride or knee mechanics, and do not typically develop back pain.

WHEN TO REFER

•• Promptly refer all pediatric femur fractures to an orthopaedic surgeon. •• Temporary immobilization with a splint from buttock to mid-calf offers excellent restoration of alignment and analgesia (Figure 45-2).

•• Refer cases of suspected physical abuse to the appropriate local authorities. These

would include especially preambulatory infants without bone disease and children younger than age 3 years without plausible history. Note that the fracture pattern is not helpful in the diagnosis of nonaccidental trauma and specifically that spiral

Figure 45-2. Posterior mold splint.

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fractures of the femoral shaft in ambulatory children are typically accidental, not inflicted. •• Skeletal surveys should be performed for infants with suspected abuse-related femoral fractures.

Distal Femoral Physeal Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Distal femoral physeal fractures account for approximately 5% of all physeal fractures.

•• These injuries usually result from high-energy trauma to a hyperextended knee, leading to anterior displacement of the epiphysis.

•• Most are Salter-Harris type I or II (see Chapter 42, Physeal Fractures, Figure 42-1, for an illustration of the Salter-Harris classification system).

•• They are associated with a high potential for growth arrest and future problems. SIGNS AND SYMPTOMS

•• Knee pain, swelling, limited range of motion, and inability to bear weight •• Tenderness over the distal femoral growth plate •• Careful neurovascular examination is performed to rule out injury to the popliteal artery or sciatic nerve.

DIAGNOSTIC CONSIDERATIONS

•• AP and lateral radiographs of the knee are usually sufficient to establish the diagnosis.

•• A notch or tunnel view may be necessary to identify Salter-Harris type III fractures.

TREATMENT

•• Anatomic reduction is required for Salter-Harris type II, III, and IV fractures

because even a small amount of physeal displacement can result in formation of an osseous bar, increasing the risk for limb-length discrepancy or angular deformity. •• Closed reduction may be possible for minimally displaced fractures, although screw or pin fixation is advisable for most of these unstable injuries. EXPECTED OUTCOMES/PROGNOSIS

•• Approximately 50% result in leg-length discrepancy or angular deformity caused by formation of osseous bars that bridge the physis

•• Loss of joint motion is a less common complication. WHEN TO REFER

•• Promptly refer all distal femoral physeal fractures to an orthopaedic surgeon.



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Proximal Tibial Physeal Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• These injuries are rare, with a high rate of complication. •• They usually result from a direct blow to the lateral aspect of the knee or from a hyperextension injury.

SIGNS AND SYMPTOMS

•• Knee pain, swelling, and inability to bear weight after acute trauma •• Tenderness over the proximal tibial growth plate DIAGNOSTIC CONSIDERATIONS

•• AP and lateral radiographs of the knee are initially sufficient to establish the diagnosis.

•• Careful neurovascular examination should be performed to rule out injury to the popliteal artery or sciatic nerve.

TREATMENT

•• Non-displaced fractures are usually treated in a long-leg cast with the knee flexed approximately 15 degrees.

•• Displaced fractures are treated with closed or open reduction with cast or pin

fixation and must be meticulously evaluated pre- and postoperatively because of the high risk for vascular injury and compartment syndrome.

EXPECTED OUTCOMES/PROGNOSIS

•• These patients must be followed for several years because they are at high risk for angular deformity or leg-length discrepancy caused by physeal arrest.

WHEN TO REFER

•• Promptly refer all proximal tibial physeal fractures to an orthopaedic surgeon. •• Emergently refer all displaced proximal tibial physeal fractures.

Tibial Tubercle Avulsion Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Avulsion of the tibial tubercle apophysis is caused by sudden, forceful contraction of the quadriceps.

•• This type of fracture accounts for less than 3% of physeal injuries. •• They are most common during adolescence (ie, 14–16 years of age). •• They usually occur during sports or activities with repetitive jumping and contraction of the quadriceps (eg, basketball, volleyball).

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SIGNS AND SYMPTOMS

•• Acute onset of a painful pop in the knee during jumping or landing •• Difficulty bearing weight •• Marked immediate swelling and tenderness over the tibial tubercle, followed by bruising

•• Inability to perform a straight-leg raise DIAGNOSTIC CONSIDERATIONS

•• AP and lateral radiographs of the knee are sufficient. ——This imaging will distinguish tibial tubercle avulsion fractures from Osgood-

Schlatter disease, in which there is only mild fragmentation or widening of the apophysis on radiographs but no fracture. With tibial tubercle fracture, there is also radiographic soft tissue swelling. •• There is a high risk for anterior leg compartment syndrome due to bleeding: test neurovascular function of foot and toes TREATMENT

•• Non-displaced fracture: Splint, then cast, followed by physical therapy and return to sport in 2 to 3 months

•• Displaced fracture: Surgery, including open reduction and internal fixation, often with anterior compartment fasciotomy and primary repair of entire quadriceps/ patella tendon disruption. Physical therapy begins once the fracture is healed or sufficiently stable.

EXPECTED OUTCOMES/PROGNOSIS

•• With proper treatment, prognosis is excellent for complete healing and return to previous level of activity.

•• Growth disturbance is rare due to the later age typical for this injury. WHEN TO REFER

•• Non-displaced fractures may be managed by primary care physicians who are comfortable with casting.

•• Promptly refer to an orthopaedic surgeon cases involving ——Significantly displaced fractures ——Suspected acute compartment syndrome

Tibial Shaft Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Fractures of the tibial midshaft account for 39% of tibial fractures. •• Most are spiral fractures because of rotation of body weight around the planted foot.

•• Isolated, transverse fractures are usually from a high-energy direct blow.



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SIGNS AND SYMPTOMS

•• Pain, tenderness, and swelling over the fracture site; deformity if displaced •• Difficulty bearing weight DIAGNOSTIC CONSIDERATIONS

•• Perform a careful neurovascular examination to rule out compartment syndrome. •• Radiographs (AP and lateral) of the tibia that include the knee and ankle joints are sufficient for diagnosis.

•• The fracture is non-displaced if there is ——Less than 5 mm of displacement in the AP and mediolateral directions (radiograph)

——Less than 15 degrees of angulation in the AP plane (radiograph) ——Less than 5 degrees angulation in the mediolateral plane (radiograph) ——Less than 10 degrees of rotation (clinical assessment: compare with opposite limb) TREATMENT

•• Non-displaced fractures ——Non–weight-bearing, long-leg cast with the knee in 30 degrees of flexion. Mold cast to improve alignment.

——When radiographs demonstrate sufficient callus, a weight-bearing, long-leg or short-leg cast may be used until healing is compete (usually 6–10 weeks).

•• Displaced fractures ——These require manipulation or operative management. In general, surgical

methods are used in teens, depending on skeletal maturity and fracture pattern.

EXPECTED OUTCOMES/PROGNOSIS

•• Patients can resume previous level of activity when clinical and radiographic healing is complete and strength and joint range of motion are normal.

•• Physical therapy may be required to regain knee range of motion and muscle strength, flexibility, and function.

•• Potential complications include compartment syndrome, nonunion (no

radiographic signs of healing by 12 weeks), malunion (varus angulation > 15 degrees does not remodel well), and postoperative infection.

WHEN TO REFER

•• Non-displaced fractures may be managed by primary care physicians who are comfortable with casting.

•• Promptly refer to an orthopaedic surgeon ——All displaced, angulated, or open fractures, and those with neurovascular deficits

Toddler Fracture (Spiral Tibia Fracture in the Toddler) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Non-displaced oblique or spiral fractures of the distal tibial shaft with no injury to the fibula are termed toddler fractures.

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•• Toddler fractures usually occur between 9 months and 6 years of age in an ambulatory child.

•• They occur with minimal trauma, usually during a trip and fall while running or playing.

•• Toddler fractures are not typically the result of child abuse (nonaccidental trauma).

SIGNS AND SYMPTOMS

•• Refusal to walk or bear weight •• Tenderness over the mid-lower tibia •• No pain at rest •• No swelling, bruising, or deformity DIAGNOSTIC CONSIDERATIONS

•• Radiographs (AP and lateral views) of the tibia may show the faint oblique fracture line through the distal metaphysis (Figure 45-3), but often appear normal. ——Oblique views must be ordered to delineate the fracture. •• When suspicion is high and radiographic findings are negative, repeat radiographs can be obtained in 7 to 10 days, when a fracture line or periosteal reaction may be present. TREATMENT

•• Immobilization in a short-leg or long-leg walking cast, splint, or boot for 2 to

3 weeks. Full immediate weight bearing is allowed. These are stable fractures.

•• If the fracture is detected late (≥2 weeks after injury), treatment is not necessary unless symptoms are severe.

Figure 45-3. Toddler fracture. Radiographs of the tibia may show the faint oblique fracture line through the distal metaphysis (arrows). Courtesy of Loren Yamamoto, MD.



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EXPECTED OUTCOMES/PROGNOSIS

•• A toddler fracture will heal completely within 6 to 8 weeks. WHEN TO REFER

•• Toddler fractures may be managed by primary care physicians who are comfortable with casting, splinting, or applying a prefabricated boot.

•• Refer to an orthopaedic surgeon for casting if desired.

Salter-Harris Type I Distal Fibula Fractures INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• In the skeletally immature child, the most common acute injury of the foot and ankle is a Salter-Harris type I fracture of the distal fibula (lateral ankle).

•• The mechanism is the same as for an ankle sprain—acute inversion to the ankle, usually during sports.

•• Because the distal fibular physis is weaker than the surrounding ligaments,

children are more likely to have a physeal fracture than a ligament sprain after an ankle inversion injury. ——Controversy exists as to whether most physeal fractures are true Salter-Harris type I fractures or simply sprains.

SIGNS AND SYMPTOMS

•• Lateral ankle pain after an inversion injury •• Painful weight bearing •• Tenderness directly over the distal fibular physis (1 cm above the tip of the fibula) •• Little or no swelling DIFFERENTIAL DIAGNOSIS

•• Distinguish from an ankle sprain, which will be associated with tenderness more distally over the ligaments that attach the fibula to the talus.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is based on history, physical examination, and radiographs (AP, lateral, and mortise views of the ankle).

•• Radiographs may show soft tissue swelling adjacent to the physis or slight widening of the physis, but frequently appear normal.

•• Until recently, any skeletally immature athlete with tenderness at the distal fibula after an inversion injury to the ankle has been treated for a Salter-Harris type I fracture of the distal fibula. This is now disputed and a subject of active research (see the Bibliography at the end of this section of the book).

TREATMENT

•• Treatment is largely focused on symptoms and consists of casting or

immobilization in a walking boot or air stirrup for 3 to 4 weeks, whichever allows

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pain-free weight bearing; otherwise, crutches are required until weight bearing is pain-free. •• Reevaluation may occur in 2 to 3 weeks if needed. •• Children and adolescents may return to play when there is no longer any tenderness at the physis and weight bearing is pain-free, which typically takes about 3 to 4 weeks. •• Rehabilitation is rarely necessary. •• Displaced fractures require reduction and sometimes surgical fixation. EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent for complete healing and full return to previous level of activity.

•• Growth disturbance occurs in less than 1% of Salter-Harris type I distal fibular fractures and does not affect function.

WHEN TO REFER

•• Salter-Harris type I injuries and sprains may be treated by the primary care physician.

•• Refer displaced fractures to a pediatric orthopaedic surgeon.

Transitional Ankle Fractures (Juvenile Tillaux, Triplane) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Transitional ankle fractures occur during early adolescence (12–15 years of age)

when the physis is in the process of closing, termed the transition period near the cessation of skeletal growth. •• The asymmetrical closure of the distal tibial physis (from posteromedial to anterolateral) produces distinct fracture patterns. •• Tillaux fractures ——On external rotation of the ankle, the anterior tibiofibular ligament avulses a small portion of the distal lateral tibial epiphysis, involving the articular surface (Figure 45-4). ——Common mechanisms include sliding in baseball or softball and skateboard falls. ——Tillaux fractures are more common in girls. •• Triplane fractures ——Triplane fractures are more severe than Tillaux fractures, resulting from a higher-energy trauma. ——The most common mechanism is external rotation (ie, eversion) of a planted foot. ——Fracture lines propagate in 3 planes of the distal tibial growth plate—axial, sagittal, and frontal (Figure 45-5). ——The fracture can be 2- or 3-part, depending on the degree of physeal closure. ——It is commonly associated with fibular fracture. ——Triplane fractures are more common in boys.



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Figure 45-4. Juvenile Tillaux fracture. Anteroposterior view of the ankle shows a small anterolateral epiphyseal fragment that is displaced toward the fibula and away from the remaining portion of the epiphysis (black arrows). The white arrows show a subtle displacement of the epiphyseal fragment in relationship to the metaphysis. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:882. Reproduced with permission.

Figure 45-5. Triplane fracture. A, Anteroposterior view of the ankle shows a fracture through the anterior portion of the epiphysis (black arrows). The white arrows indicate subtle lateral displacement of the epiphysis, causing widening of the medial ankle mortise (arrowheads). B, Lateral view of the ankle shows a posterior metaphyseal fragment (arrow) extending from the physis to the posterior cortex of the tibia. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:893. Reproduced with permission.

SIGNS AND SYMPTOMS

•• Pain, swelling, bruising, and inability to bear weight, although some patients have minimal pain and can bear weight

•• Tenderness at the anterior ankle •• Palpate the proximal fibula to evaluate for Maisonneuve fracture.

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DIAGNOSTIC CONSIDERATIONS

•• Diagnosis can usually be established via radiography. ——AP, lateral, and mortise views of the ankle are usually sufficient. ——Oblique view may help identify a triplane fracture ——Two views of the fibula are performed if there is any fibular tenderness. •• Computed tomography is often used to define the propagation of the fracture and amount of intra-articular displacement. Three-dimensional reconstructions are also helpful. These studies are also helpful in planning surgical fixation.

TREATMENT

•• Tillaux fracture ——Most are non-displaced and can be treated with a non–weight-bearing, shortleg cast for 4 to 6 weeks.

——Physical therapy begins after the cast is removed to regain motion and strength. ——For displaced fractures, treatment is similar to that for triplane fractures.

•• Triplane fractures ——For displacement less than 2 mm, closed reduction may be attempted and is successful in 30% to 50% of cases.

——Displacement of more than 2 mm requires open reduction and internal fixation.

——After adequate reduction, patients are treated with a non–weight-bearing, long-

leg cast for 4 to 6 weeks, followed by a limited–weight-bearing, short-leg cast for 4 more weeks. ——Physical therapy begins after the cast is removed to regain motion and strength. ——After surgery, patients are non–weight-bearing, typically in a long-leg cast or brace for 4 to 6 weeks. EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is good for return to previous activity level. •• Significant growth disturbances are uncommon because these patients are nearing the end of growth.

•• Patients are at risk for early arthritis when reduction of joint surface is inadequate. WHEN TO REFER

•• Promptly (within several days) refer all transitional fractures to a pediatric orthopaedic surgeon.

Fractures of the Fifth Metatarsal Base INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The 2 most common types of fifth metatarsal fracture in children and adolescents are tuberosity fractures and apophyseal avulsion fractures.

•• These fractures are caused by the same mechanism that causes an ankle sprain— excessive inversion on a plantar-flexed ankle.



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SIGNS AND SYMPTOMS

•• Sudden, painful pop or snap at the lateral foot during inversion injury •• Difficulty bearing weight •• Tenderness, swelling, and bruising along the lateral aspect of the foot DIAGNOSTIC CONSIDERATIONS

•• Radiographs (AP, lateral, and oblique views of the foot) are sufficient for diagnosis.

•• Tuberosity fracture: transverse fracture through the tuberosity that is oriented

perpendicular to the long axis of the metatarsal (see Chapter 33, Overuse Injuries, Figure 33-11, B) ——Differentiate from the normal apophysis, a fleck of bone parallel to the long axis of the fifth metatarsal, visible in girls 9 to 11 years of age and in boys 11 to 14 years of age. The normal apophysis is distinguished from an acute fracture by its lack of tenderness and longitudinal orientation on radiographs. •• Apophyseal avulsion fracture: widening or separation of the apophysis ——Comparison views of the opposite foot can confirm this diagnosis. ——Tenderness at the apophysis without a history of acute trauma suggests Iselin disease, a traction apophysitis of the fifth metatarsal tuberosity (see Chapter 33, Overuse Injuries). TREATMENT

•• Patients can bear weight as tolerated in a short-leg walking cast, cast shoe, or walking boot.

•• Return to sports is possible when there is no tenderness at the fracture site and weight bearing is pain-free, which usually occurs at 3 to 4 weeks.

•• Rehabilitation is rarely necessary. •• Tuberosity fractures with more than 2 mm of displacement may require surgical fixation for optimal healing.

EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent for complete healing and return to previous activity level. WHEN TO REFER

•• Most of these fractures can be treated by the primary care physician. •• Refer significantly displaced fractures to a pediatric orthopaedic surgeon. •• A chronic athletic stress fracture of the proximal third of the fifth metatarsal shaft is called a Jones fracture and should be referred for surgery in most cases.

CHAPTER 46

Casting and Splinting Introduction

•• Acute management of musculoskeletal injuries often involves splinting or casting for comfort, maintaining alignment, or protection for return to play.

•• Appropriate management varies widely by type and location of injury. Refer to appropriate chapters for more detail on injury-specific treatments.

•• General guidelines ——Unstable fractures require secure immobilization. Displaced fractures are

usually unstable. a joint above and below the site of injury to maintain alignment. ——Stable fractures, such as buckle (ie, torus) fractures (see Chapter 44, Common Fractures of the Upper Extremities, Figure 44-12) and radiographically healing fractures (Figure 46-1), require less immobilization. „„Span the injury, including the nearest joint, to adequately stabilize and provide protection of the injured area. ——Joint injuries are immobilized to the body part above and below. „„Immobilize

Figure 46-1. Healing fracture with callus formation (arrow) that will prevent future displacement if there is no reinjury.

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Fracture Reduction

•• Adequate anesthesia facilitates quick and effective reduction of displaced fractures. •• Regional blocks or hematoma blocks with local anesthesia (eg, lidocaine) are often effective for phalangeal, metacarpal, and distal radial fractures in older children. Administration should not exceed 4.5 mg/kg lidocaine. •• Moderate sedation, or even general anesthesia, may be used in younger children, for lower extremity fractures, or for those for whom initial attempts at reduction are unsuccessful.

Purpose of Immobilization

•• Splint (non-circumferential) ——May be modified as needed to immobilize and stabilize an acute fracture or soft tissue injury (Table 46-1).

——At the time of injury „„Provides

stability, limits motion, and offers pain relief until the time of definitive treatment or recovery „„Provides protection but allows for swelling and removal for neurovascular checks ——For stable fractures „„Permits removal for rehabilitation during or prior to return to activities •• Cast (circumferential) ——More securely limits motion and prevents easy removal ——For potentially unstable fractures, a well-molded, custom-fit cast maintains reduction and decreases the risk of complications. ——For stable fractures, a cast affords protection during return to high-risk athletic activities.

Table 46-1. Prefabricated Stabilization of Fractures and Injuries Based on Anatomic Location Anatomic Location

Preferred Method of Stabilization

Distal interphalangeal joint

Distal interphalangeal joint extension splint

Fifth metacarpal fracture

Boxer splint

Thumb, thumb ulnar collateral

Thumb spica splint, gamekeeper splint

Scaphoid

Thumb spica splint

Wrist

Colles splint, wrist brace

Shoulder

Shoulder immobilizer, shoulder stabilizer, sling

Clavicle

Figure-of-eight brace, sling, or shoulder immobilizer

Cervical spine

C-collar

Hip

Hip abduction brace

Knee

Knee extension brace, hinged knee brace, patellar stabilizing brace

Ankle

Cast boot, stirrup brace, lace-up/figure-of-eight brace

Foot

Postoperative shoe



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Choice of Immobilization Materials •• Premade splints ——Aluminum and foam constructs „„Most

commonly used to immobilize fingers to the desired position (templated on uninjured contralateral side) and secure with tape or elastic bandage. ——Injury-specific prefabricated splints exist for almost any location and type of injury. „„Models may include soft (eg, elastic, neoprene, nylon), semirigid (metal stays within a soft body), rigid (eg, plastic, metal), pneumatic, or even dynamic material. „„Many have built-in hinges that allow movement in some planes. „„These splints provide protection for soft tissue injuries or stabilized fractures in which the risk for reinjury is low but not negligible, although use for acute management of stable fractures is growing (Table 46-2). •• Plaster—it still works! ——Easily moldable in any plane and over any prominence ——May be used for a cast or splint. ——Preferred for initial management after fracture reduction •• Fiberglass ——Durable, water-tolerant material; lighter than plaster ——Used for casting non-displaced and stable fractures, although some institutions use it for nearly all fractures. ——Material of choice for athletes who return to play with a healing but stable fracture •• “Soft” fiberglass ——Incompletely sets, creating a semirigid cast that allows for some motion and may be removed by the patient when treatment is complete. ——Appropriate for most buckle fractures. •• Fiberglass encased in synthetic padding ——Molds in multiple planes for a closer fit. ——Used to temporarily stabilize a fracture until definitive treatment ——Products come in precut lengths or may be cut to length from a roll, dipped in (or run under) water (wringing or blotting out the excess), molded to a padded extremity, and secured with an elastic bandage as the product hardens (Figure 46-2, A-D). „„Bend

Table 46-2. Types of Splint Constructs Splint Type

Use

Volar slab

Distal radius, carpal (except scaphoid)

Ulnar gutter

Fourth or fifth metacarpal or phalangeal

Radial gutter

Second or third metacarpal or phalangeal

Thumb spica

Scaphoid, first metacarpal, thumb

Coaptation

Humerus

Sugar tong

Forearm, lower leg

Posterior

Leg, elbow

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 46-2a. Splinting an arm using encased fiberglass: Encased fiberglass is cut to desired length.

Figure 46-2b. Exposure to water accelerates hardening; excess water should be wrung out.

Figure 46-2c. Molding of the splint in the desired position over a padded extremity. Additional cast padding should be placed, especially around bony prominences, to help prevent skin issues. Padding should be placed over the cut edges of the fiberglass splints, which are very sharp and can lacerate skin if not padded.

Figure 46-2d. Splint is secured with an elastic bandage.



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Application of Plaster or Fiberglass

•• Safe and effective application of casts and splints requires experience and should be approached with caution and appropriate training to avoid complications.

•• Casting should be performed by professionals who have had supervised training and appropriate certification in the proper application.

•• Padding ——Placed over the skin to protect from irritation during wear and injury during removal

——Cotton rolls

„„Preferred

for initial treatment mild to moderate swelling „„Conform to prominences and are easily removed „„After the cast or splint sets, the cotton must remain dry. ——Synthetic (polypropylene polytetrafluoroethylene) „„Repels water, so may allow for getting the cast wet, although some patients may still experience skin problems. „„More restrictive, so use with caution if continued swelling is a concern. „„Polypropylene requires a synthetic stockinette to prevent skin reaction. „„Place protective strips between synthetic liner and fiberglass for additional protection during removal. ——Start distally, wrapping circumferentially and overlapping 50% with each turn while moving proximally. ——If there is concern for excessive swelling, padding is applied longitudinally. ——Avoid wrinkles in the lining that may create pressure sites. ——Four layers suffice in most cases and reduce the risk of burns during removal. A well-padded cast or splint is not the goal—excess padding prevents close molding and allows for increased motion and shear forces that may lead to loss of alignment. •• Splints ——Apply padding as appropriate (Figure 46-3a). ——Unwind the roll of plaster or fiberglass and fold over repeatedly at the desired length to create a stack 6 to 10 layers thick, depending on the site to be immobilized and the age of the patient (Figure 46-3b). „„Accommodate

Figure 46-3a. Applying a splint: Use 2 to 3 layers of webroll padding; 3 to 4 over bony prominences.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 46-3b. Plaster is creased and folded on itself.

——Do not double the plaster. Excess thickness (> 12 layers) may lead to burns. ——Dip the stack in water (at manufacturer’s recommended temperature), gently

remove excess water (Figure 46-3c), then apply to the site and mold in place (Figure 46-3d). ——Secure the splint with an elastic bandage (Figure 46-3e). •• Casts ——Apply stockinette as appropriate for a clean edge (Figure 46-4a). ——Place the extremity in the position required to maintain reduction or alignment, or in a neutral position to prevent contractures (see relevant chapters for injury-specific guidance). ——Apply padding as appropriate (Figure 46-4b). ——If casting over an ankle, knee, or elbow, first make a splint consisting of 4 to 6 layers to place over the convexity of the joint (Figure 46-4c). Making a cast strong enough using only circumferential wraps results in a cast 3 times thicker in the concavity as in the convexity. ——Dip the roll of wrap in water (at the manufacturer’s suggested temperature), leaving the tail free. ——Start distally, unwinding the roll as the site is wrapped without stretching. During curing, the weave will contract and constrict. ——Overlap each wrap 50%, avoiding prominent folds or creases (Figure 46-4d). It may be necessary to fold and tuck the plaster (Figure 46-4e). ——For fiberglass, the wrap may be cut to smoothly wrap the layers. Smooth each circumferential wrap into the prior one to incorporate the layers. ——After one layer has been placed, position the splint, then wrap back down the extremity to incorporate. ——Apply additional layers (2–4) as necessary to strengthen the cast. ——Mold the cast around prominences and as necessary to maintain fracture alignment.



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Figure 46-3c. Excess water is removed after dipping.

Figure 46-3d. The splint is applied to the extremity and molded.

Figure 46-3e. An elastic bandage holds the splint in place.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 46-4a. Applying a cast: Lower extremity stockinette is applied over the skin.

Figure 46-4b. Padding is applied.

Figure 46-4c. A splint is preconstructed for use behind the heel.

Figure 46-4d. The fiberglass cast is molded to avoid prominent folds and creases.



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Figure 46-4e. As plaster is wrapped, prominent edges (arrow) are folded and tucked.

——Casts may be cut longitudinally (univalve for plaster or bivalve for fiberglass) after hardening if there is concern for additional soft tissue swelling. the cast with an elastic bandage to hold the halves together. „„Once the swelling resolves, over-wrap the cast with fiberglass for a longer lasting construct. „„Over-wrap

Continued Fracture Care

•• Elevate the injured extremity above the level of the heart as much as possible for 3 to 4 days to minimize swelling.

•• Prevent exposure of casts and splints to water unless cast material is waterproof.

Waterproof casts require daily rinsing to keep the material from adhering to the skin. Refer to specific manufacturer guidelines for complete cast care instructions. •• Treat pain with acetaminophen or limited narcotic analgesics. •• Modify activity as appropriate for fracture type and location (eg, non-weight bearing for lower extremity fractures, limited use for upper extremity fractures). •• Counsel families that nothing should be put into the cast and that coat hangers or pins should not be used to scratch. •• Follow-up ——Unstable fractures are re-evaluated in 1 week with radiography to assess alignment. Radiographs in the cast are usually acceptable. ——Stable fractures are re-evaluated as necessary to determine appropriate timing for removal of the cast or splint and advise the patient and caregiver on appropriate return to play (4–6 weeks).

Duration of Wear

•• Decisions about initiation of and transition between casting and splinting should

be based on clinical and radiographic findings, risk for complications from casting, and risk for reinjury. •• Refer to appropriate chapters for injury-specific guidelines. •• For stable fractures, splint until re-fracture risk is minimized, usually 3 to 6 weeks (Figure 46-5).

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•• For unstable fractures, casting precedes splinting until the reparative phase of bone healing is well established, whereby the fracture stabilizes and bridging callus develops, typically 4 to 8 weeks in children (see Chapter 41, Stages of Fracture Healing) (Figure 46-6). •• Casting may continue longer for protection during high-risk sports.

Figure 46-5. A, Buckle fracture (arrow) in a 13-year-old child, day of injury. B, After 4 weeks, periosteal reaction (large arrow) and sclerosis (small arrow) at the fracture site are present.

Figure 46-6. A, A transverse fracture after 4 weeks demonstrates periosteal reaction (arrow). B, Callus is evident at 6 weeks (arrow).



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Complications

•• Burns from plaster or fiberglass application (rare) ——As moldable constructs harden, an exothermic reaction occurs. ——Thicker constructs generate more heat. ——Hot water adds to the heat generation and may burn the skin, so water temperature should not exceed manufacturer suggestions.

•• Water exposure ——Plaster breaks down and loses its integrity when wet. Cotton padding remains

wet once exposed to water. In both circumstances, the cast should be replaced promptly. ——Synthetic padding does not absorb water or will dry out over a number of hours, allowing flexibility in water exposure. Refer to manufacturer guidelines to determine appropriate duration of water exposure. •• Skin breakdown ——Do not change the position of an extremity once plaster or fiberglass has been applied. This creates folds that will erode through the skin (Figure 46-7). ——Molded splints that have been placed on toddlers should be evaluated in a timely manner to avoid development of skin breakdown, including blisters. ——Poorly molded casts that allow excess motion may lead to skin irritation and breakdown, as well as loss of fracture alignment. ——Children often place objects in their cast that can lead to pressure sores if not promptly removed. •• Neurovascular compromise ——A tight or malpositioned cast poses a risk for neurovascular impingement or even compartment syndrome. Examine the patient before and after application and instruct on proper monitoring at home. •• Foreign bodies ——Children often place objects in their cast and deny doing so (Figure 46-8). Pain from a cast always requires investigation. Figure 46-7. Folds (arrow) in the concavity of a cast were generated by placing the cast while the foot was in equinus, then dorsiflexing the foot into the desired position afterwards.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 46-8. Foreign body (capsule) was found in this cast on removal.

Figure 46-9. A cutting guard (arrow) provides additional protection against injury to the underlying skin during cast removal.

•• Improper removal ——A cast saw may cause abrasions or burns. Blades become hot during removal,

especially when cutting through thick casts. Intermittent pauses allow it to cool. ——The saw blade should not be drawn across the cast, but rather only pressed and withdrawn using a repetitive in-and-out technique through the cast to prevent cutting the skin. ——Use of plastic guards or placement of protective strips under the cast reduces injury risk (Figure 46-9). •• Prolonged immobilization ——Immobilization results in joint and tendon contractures, muscle atrophy, and loss of proprioception. Many children improve on their own, but some require formal rehabilitation.

Return to Play Guidelines

•• The safety of returning to sport with a cast or splint depends on ——Degree of fracture healing ——Risk of reinjury



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——Ability to adequately protect the injury with a splint or cast ——Whether the sport’s rules or officials permit play with casts or splints

•• If return to play in a splint or cast is allowed, the cast or splint is covered with

bubbled plastic wrap or foam padding to decrease the risk of injury to other players. ——Splints may need to be secured to the injured extremity with cloth tape to prevent shifting during activity. ——Athletes are instructed to adjust and retighten splints periodically because they often loosen during activity. •• If bracing or casting of the injury is not feasible or not allowed for return to play, athletes should attain radiographic healing and the return of functional motion and strength before resuming high-risk activities.

CHAPTER 47

Occult Fractures (Injury Not Detected by Radiography) Introduction/Etiology/Epidemiology

•• Occult fractures are difficult-to-diagnose common fractures in a child with

extremity pain, disuse, and a history of trauma in which radiographic findings are usually normal. •• Physical examination is very important in this clinical setting. •• Toddler fractures of the lower extremity are common sites of occult fractures. Fractures of the tibial shaft, calcaneus, cuboid, and first metatarsal are most prevalent in this age group. •• The elbow is also a common site for occult fractures.

Signs and Symptoms

•• History of trauma •• Extremity pain •• Disuse •• Swelling is sometimes present.

Differential Diagnosis

•• Sprain •• Contusion •• Transient synovitis and infection should also be excluded in a child with pain and disuse but normal radiographic findings.

Diagnostic Considerations

•• Occult fractures should be suspected when there is concern for abuse and a child is younger than 2 years of age. The assessment includes (but is not limited to) a skeletal survey and a follow-up skeletal survey. •• Initial diagnosis is usually determined based on clinical findings but may not be confirmed until fracture healing has become evident on radiographs at 10 to 14 days after injury. ——Include oblique views if no obvious fracture is present on the anteroposterior and lateral images.

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——When the point of maximal tenderness cannot be identified (eg, the preschoolaged child who cannot verbalize the site of pain or is crying throughout the examination), the entire extremity is imaged. ——If the point of maximal tenderness is over a growth plate and the radiographic findings are normal, the diagnosis may be a non-displaced Salter-Harris type I fracture. ——In a child, fracture findings may be seen only on one view. ——Children have multiple apophyses in varying locations that can be confused with fractures. „„Apophyses have smooth rounded borders, unlike the irregular, jagged edges of a fracture. „„Comparison views of the contralateral extremity may help to distinguish a normal apophysis from a fracture. ——Occult fractures should be suspected in the elbow. „„When bony injury is not evident on radiographs, evaluate the soft tissues, particularly the anterior and posterior fat pads. „„Fluid/swelling within the elbow joint elevates the fat pads from the bone, making them apparent on a lateral radiograph of the elbow. „„The posterior fat pad is larger than the anterior fat pad, and the elevation of the posterior fat pad is much more sensitive for fracture of the distal humerus, proximal radius, or olecranon. ——Occult fractures should be suspected in the lower extremity in toddlers. „„There may or may not be a history of significant trauma, but the child will usually avoid bearing weight on the affected extremity. „„Spiral fractures of the distal tibial shaft are often present but are not apparent on radiographs or may only be seen on a single image (usually the lateral or an oblique image). „„Impaction fractures of the cuboid, first metatarsal, or calcaneus may be subtle or only present as sclerosis in these bones.

Treatment

•• Immobilize the affected extremity, make non-weight bearing, and refer to an

orthopaedic surgeon or pediatric sports medicine physician for reevaluation in 10 to 14 days. ——Children can be immobilized for short periods without risk of stiffness or limitation in motion. •• Reevaluation includes clinical and radiographic examinations. ——Persistent bony tenderness over the affected area supports the diagnosis of a fracture. ——Repeat radiographs of the affected area at 10 to 14 days after injury will likely show signs of bony healing (periosteal reaction) if there is a fracture present. ——Magnetic resonance imaging may be helpful if clinical suspicion exists for fracture but follow-up radiographic findings are normal and the clinical situation warrants further evaluation.



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Expected Outcomes/Prognosis

•• Depends on the specific injury •• Most heal completely with appropriate treatment.

When to Refer

•• Children with suspected fractures should be immobilized and referred to an

orthopaedic surgeon or a pediatric sports medicine physician for reevaluation in 10 to 14 days.

CHAPTER 48

Compartment Syndrome Introduction

•• Compartment syndrome is defined as an elevated intramuscular pressure within a

myofascial compartment that impedes blood flow and impairs nerve and muscle function. •• It may be acute or chronic. •• There are currently no radiographic studies available to accurately diagnose acute or chronic compartment syndrome. Post-exercise magnetic resonance imaging (MRI) has been hypothesized to show high signal intensity changes in affected compartments compared with resting MRI, but it is not considered the reference standard.

Acute Compartment Syndrome INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Typically secondary to trauma such as an underlying fracture, crush injury, or contusion

•• May also be associated with reperfusion after ischemia and circumferential burns •• Most common locations include lower leg, forearm, thigh, and upper arm •• Most common clinical scenario is a tibia fracture and resultant compartment syndrome of the lower leg

SIGNS AND SYMPTOMS

•• Adults (the 5 P’s) ——Pain out of proportion to clinical setting and with passive range of motion of adjacent joints

——Paresthesia in the area supplied by the affected nerve ——Pallor ——Paralysis ——Pulselessness ——Involved compartments are tense to palpation

•• Children (the 3 A’s) ——Agitation ——Anxiety ——Increase in analgesic needs

DIFFERENTIAL DIAGNOSIS

•• Arterial occlusion •• Neurapraxia

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•• Cellulitis •• Deep vein thrombosis DIAGNOSTIC CONSIDERATIONS

•• For an awake, alert patient the diagnosis is clinical based on appropriate clinical history and physical examination findings.

•• In the comatose patient or in equivocal cases the compartment pressures can be measured using a compartment pressure monitor or an arterial line setup.

•• Resting compartment pressures less than 30 mm Hg are considered normal. •• Delta-P is the difference between diastolic blood pressure and measured compartment pressure. Delta-P < 20 to 30 mm Hg indicates the need for fasciotomy.

TREATMENT

•• Acute compartment syndrome requires immediate orthopaedic consultation for consideration of emergent fasciotomies of the affected compartments.

EXPECTED OUTCOMES/PROGNOSIS

•• Failure to perform emergent surgery and fasciotomies for acute compartment syndrome leads to irreversible nerve and muscle damage and poor outcomes.

WHEN TO REFER

•• Acute compartment syndrome requires emergent referral to an orthopaedic surgeon.

Chronic Compartment Syndrome INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Often called chronic exertional compartment syndrome (CECS) •• Typically occurs in bilateral lower legs •• One or more lower-leg compartments, each of which contains muscles and

neurovascular structures, may be affected. ——Anterior: long extensor muscle of the great toe, long extensor muscle of the toes, third peroneal muscle, anterior tibial muscle, deep peroneal nerve ——Deep posterior: long flexor muscle of the great toe, long flexor muscle of the toes, posterior tibial muscle and nerve ——Lateral: long and short peroneal muscles, superficial peroneal nerve ——Superficial posterior: gastrocnemius muscle, soleus muscle, and sural nerve •• The anterior compartment is most commonly affected (40%–60%), followed by the deep posterior (32%–60%) and lateral (12%–35%) compartments, with the superficial posterior compartment being least commonly affected. •• Athletes who participate in sports that involve prolonged running are at greatest risk. •• Rarely, CECS may progress to acute compartment syndrome.



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SIGNS AND SYMPTOMS

•• Patients report pain, tightness, aching, cramping, or throbbing of the affected compartment(s) triggered by activity.

•• Symptoms have a predictable onset based on time, distance, or intensity of exercise. •• Symptoms are relieved with rest (within 10–60 minutes) and as a result, athletes often prematurely terminate exercise due to discomfort.

•• Physical examination is most often normal at rest, but muscle herniation may be visible (Figure 48-1).

•• After exercise the affected compartment may be tight and tender. Passive stretching may be painful.

•• Weakness or numbness in the distribution of the affected compartment(s) may be evident during or immediately after exercise. ——Anterior: dorsal foot numbness, drop foot ——Deep posterior: plantar foot numbness, posterior leg cramping ——Lateral: dorsal foot numbness, eversion weakness ——Superficial posterior: lateral ankle/foot numbness, posterior leg cramping

DIFFERENTIAL DIAGNOSIS

•• Medial tibial stress syndrome (shin splints) •• Stress fracture •• Nerve entrapment •• Popliteal artery entrapment •• Deep vein thrombosis •• Tendinitis •• Radiculopathy •• Soft tissue mass •• Arterial vascular disease with claudication DIAGNOSTIC CONSIDERATIONS

•• Diagnosed by invasive, handheld catheter pressure measurement of lower-leg compartments and is considered the reference standard (Figure 48-2)

Figure 48-1. Fascial herniation.

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•• Figures 48-3 and 48-4 show anatomic sites for needle entry for all 4 compartments.

•• Measurements of compartment pressures should occur at rest as well as 1 and

5 minutes after exercise. Measurements should be performed on both legs in all compartments. Exercise should be performed until symptom onset. •• Pressure greater than or equal to 15 mm Hg at rest, greater than or equal to 30 mm Hg 1 minute post-exercise, and greater than or equal to 20 mm Hg 5 minutes post-exercise are all considered diagnostic. Figure 48-2. Compartment pressure monitor.

Figure 48-3. Anatomic locations for needle entry for anterior and lateral compartment measurement.

Figure 48-4. Anatomic location for needle entry for posterior compartments. Both superficial and deep measurements can be obtained through one location just medial to the tibia.



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TREATMENT

•• Chronic compartment syndrome may occasionally respond to nonoperative

treatment with activity modification, nonsteroidal anti-inflammatory drugs, lower extremity stretching, soft tissue massage, compression sleeves, gait retraining for forefoot strike, and orthoses. •• Prolonged rest often facilitates symptom resolution but often is not a good option for athletes as the symptoms return with resumption of impact activity. •• Nonoperative care is often unsuccessful, and surgical fasciotomy of the affected compartments is advisable. EXPECTED OUTCOMES/PROGNOSIS

•• Surgical treatment of chronic compartment syndrome entails fasciotomies of affected compartments.

•• Surgical intervention (open or endoscopic) has an overall success rate

of between 66% and 90%, with most patients being able to return to their activities within 2 to 3 months. The highest success rates are achieved when all 4 compartments are released. •• Complications include re-scarring of the fascia with a return of CECS symptoms in 6% to 11% of cases. •• Ultrasonography guided fasciotomy has been proposed as a less invasive technique. WHEN TO REFER

•• A primary care sports medicine physician can assist with establishing the diagnosis and managing nonoperative treatment.

•• If nonoperative treatment is unsuccessful, refer to an orthopaedic surgeon.

Resources for Physicians and Families

•• American Academy of Orthopaedic Surgeons definition of compartment

syndrome (https://orthoinfo.aaos.org/en/diseases--conditions/compartmentsyndrome) •• WebMD definition of compartment syndrome (www.webmd.com/painmanagement/guide/compartment-syndrome-causes-treatments)

CHAPTER 49

Nonaccidental Trauma Introduction/Etiology/Epidemiology

•• The spectrum of child maltreatment includes neglect, psychological abuse, sexual abuse, and physical abuse (sometimes called nonaccidental trauma).

•• In 2018, more than 678,000 cases of child maltreatment reported to child

protective services in the United States were confirmed; at least 1,770 deaths were caused by child maltreatment. •• Fractures are the second most common type of injury caused by child abuse. •• Up to 20% of fractures in infants and toddlers are due to abuse. •• About 80% of all fractures caused by abuse occur in children younger than 18 months. •• In more than 80% of cases, a parent is the abuser. •• Children who have been abused may have identifiable risk factors associated with abuse. However, the absence of risk factors does not rule out abuse. •• Risk factors associated with child abuse are listed in Box 49-1.

Signs and Symptoms of Child Physical Abuse

•• Caregiver provides an explanation for an injury that does not match the mechanism causing the injury.

•• Caregiver provides no explanation for an injury that could only occur with

caregiver knowledge of the event; for example, no trauma history for a humeral fracture in an infant 3 months of age. •• Child is too young or developmentally incapable of causing the injury described; for example, 4 months of age with a “toddler” fracture. •• There is a delay in seeking care for a symptomatic injury. •• Soft tissue injuries are the most common physical findings in the abused child. Consider abuse if ——Bruises, ecchymoses, and other soft tissue injuries are on the cheeks, ears, neck, back, buttocks, chest, abdomen, or genitourinary area, or over other nonbony areas (eg, frenulum) ——Child is not yet cruising ——Bruise has a pattern of an object or instrument (eg, loop marks) ——Child has multiple bruises (> 4) and bruises in clusters •• Fractures can be caused by child abuse or result from non-inflicted trauma, and determining the cause can be difficult. ——Consider child abuse if „„History provided is inconsistent with the mechanism of the type of fracture 489

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Box 49-1. Factors and Characteristics That Place a Child at Risk for Maltreatment Child • Emotional/behavioral difficulties • Chronic illness • Physical disabilities • Developmental disabilities • Preterm birth • Unwanted child • Unplanned pregnancy Parent • Low self-esteem • Poor impulse control • Substance abuse/alcohol abuse • Young maternal or paternal age • Parent abused as a child • Depression or other mental illness • Poor knowledge of child development or unrealistic expectations for child • Negative perception of normal child behavior Environment (community and society) • Social isolation • Poverty • Unemployment • Low educational achievement • Single parent • Nonbiologically related male living in the home • Family or intimate partner violence From Flaherty EG, Stirling J; American Academy of Pediatrics Committee on Child Abuse and Neglect. The pediatrician’s role in child maltreatment prevention. Pediatrics. 2010;126(4):833–841. „„Child

has multiple fractures or fractures in different stages of healing has other evidence of abuse or neglect (eg, bruises or injuries to other parts of the body) ——Fractures with a high specificity for child abuse „„Rib fracture „„Classic metaphyseal lesion (corner fracture) „„Scapular fractures „„Spinous process fractures „„Sternal fractures ——Long bone fractures can be caused by child abuse (any long bone fracture in a child who is not yet ambulatory is a cause for concern). „„Spiral fractures can be non-inflicted or caused by child abuse. „„Transverse fractures are more commonly associated with child abuse than are spiral fractures. „„A single, isolated fracture is more common than multiple fractures. „„Child



Chapter 49: Nonaccidental Trauma „„Long

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bone fracture mechanisms

™™ Transverse fractures are caused by compressive and tensile loads applied

perpendicular to the bone (ie, bending). A high-impact load applied to a single location can cause a transverse fracture. ™™ Spiral fractures are caused by torsional loading of the bone (ie, twisting). ™™ Buckle or torus fractures are caused by compressive or axial loading of the bone. ™™ Oblique fractures are caused by a combination of torsional and bending loads applied to the bone.

Differential Diagnosis of Fractures

•• Non-inflicted (unintentional) trauma •• Osteogenesis imperfecta (OI) ——OI is much less common than child abuse. Children with OI may also be abused.

——No formal screening guidelines for OI currently exist. Genetic testing may be recommended.

•• Suspect OI if there is a family history of OI, multiple fractures, or early-onset

hearing loss, or if the patient has blue sclera or osteopenic bones on skeletal survey. •• Rickets ——Bones have characteristic radiologic appearance •• Osteopenia of prematurity ——Neonates born at less than 28 weeks of gestation or who weigh less than 1,500 g at birth are more vulnerable, particularly if they have received prolonged total parenteral nutrition, have bronchopulmonary dysplasia, or have received a prolonged course of diuretics or steroids. ——Preterm neonates may have osteopenic bones, but they are also more vulnerable to being abused. •• Other genetic/metabolic disorders may predispose to fractures, but typically have other key findings suggesting an underlying abnormality.

Diagnostic Considerations

•• A high index of suspicion for inflicted trauma must be maintained when evaluating any child with a fracture or other musculoskeletal injury.

•• A detailed history about the event causing the fracture should be sought. ——Specific details about the patient’s activity and position just prior to and

immediately following the injury event may provide information about the mechanism. ——If a history of trauma is described, determine if it is a plausible cause for the injuries sustained, with careful consideration of the child’s developmental capabilities.

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——Consider abuse if the parent or caregiver provides no explanation for an

injury, gives inconsistent or conflicting histories, or blames a nonverbal or developmentally immature child, or if there is an unreasonable delay in seeking care. •• Conduct a thorough physical examination, including checking the skin for bruises and other signs of abuse. Patterned bruises; bruises to the trunk (torso), ears, and neck in children younger than 4 years; or bruising anywhere in children younger than 4 months are highly specific for child physical abuse. •• Obtain appropriate radiographs to evaluate for other fractures. ——A “babygram” is inadequate for identifying subtle fractures in infants. ——The American Academy of Pediatrics suggests that a skeletal survey be completed for all infants and children younger than 2 years when there is suspicion for physical abuse. Skeletal surveys can identify additional occult fractures in up to 20% of abused children. ——A skeletal survey may be indicated in children 2 to 5 years of age in certain clinical scenarios (eg, if the child has bony deformities, has limited use of an extremity, has pain on palpation, or is disabled or nonambulatory). ——The American College of Radiology states that a complete quality skeletal survey includes 21 views of the skeleton. ——A skeletal survey should be repeated 2 to 3 weeks after the patient’s initial evaluation if child abuse is suspected, because acute fractures may be missed on initial imaging. ——Radiographic dating of fractures has proven to be imprecise and should be used with caution; however, fractures may be grossly described as acute or healing. ——Multiple fractures or fractures in varying stages of healing are highly suspicious for child physical abuse. •• Consideration for head imaging (head computed tomography or head magnetic resonance imaging) to evaluate for intracranial injury is indicated for ——Infants younger than 1 year for whom abuse is suspected (eg, multiple fractures, soft tissue injuries) ——Any child older than 1 year with signs and symptoms of head trauma (eg, vomiting, change in mental status) •• Laboratory studies to assess bone health may be useful in young children with fractures concerning for abuse and should be completed if there are clinical or radiographic concerns for bone disease. •• Many hospitals have multidisciplinary child abuse teams that include physicians with specialty training in child abuse. These teams may assist health care professionals with evaluation and management of possible child abuse.

Treatment

•• Treatment of specific fractures is as otherwise indicated and is reviewed in

Chapter 42, Physeal Fractures; Chapter 44, Common Fractures of the Upper Extremities; and Chapter 45, Common Fractures of the Lower Extremities. •• Reporting suspected cases of child abuse is important to the child’s welfare, as is treatment of the injuries.



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•• Health care professionals are required by state law to report suspected cases of

child abuse to state child protection authorities. The laws do not require health care providers to be certain that the child has been abused; they need only to have reasonable cause to suspect child abuse. •• The Child Abuse Prevention and Treatment Act (CAPTA) “provides protection from criminal and civil liability to health care professionals who report suspected cases of child abuse in good faith.”

Expected Outcomes/Prognosis

•• Without appropriate intervention, children who are victims of abuse are likely to experience repeated episodes of abuse, which may escalate in severity.

•• Twenty percent of fatalities related to child abuse had contact with the health care community for nonroutine care within 1 month of their deaths.

Prevention

•• Identify families at risk to abuse their child (see Box 49-1). However, it is

important to remember that any family can abuse a child and the absence of risk factors does not negate the possibility of abuse. •• Hospital and clinic social workers are an important source for identifying prevention resources. •• Make referrals that will provide the family with resources and appropriate intervention. •• Learn about local resources for alcohol and drug treatment programs, parenting classes, nursing home visiting programs, and parenting support groups.

When to Refer

•• All states require health care professionals to report all cases of suspected child abuse and neglect to state authorities. Hospital-based child abuse investigation teams can assist with this process. •• Fractures should be referred to an orthopaedic surgeon for management.

Resources for Physicians and Families

•• Hospital-based or local multidisciplinary child abuse teams, including (but often not limited to) child abuse pediatricians and social workers.

•• American Academy of Pediatrics Council on Child Abuse and Neglect

(https://services.aap.org/en/community/aap-councils/child-abuse-andneglect/) •• Childhelp ——www.childhelp.org ——800/4-A-CHILD (800/422–4453) directs callers to their local agency to make a report. •• Prevent Child Abuse America (www.preventchildabuse.org) •• Parents Anonymous Inc (www.parentsanonymous.org)

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•• Home visitation programs such as Nurse-Family Partnership (www. nursefamilypartnership.org) and Healthy Families America (www. healthyfamiliesamerica.org) •• Early childhood programs

Bibliography—Part 12 Allgrove J, Shaw NJ, eds. Calcium and Bone Disorders in Children and Adolescents. 2nd revised edition. Basel, Switzerland: Karger; 2015 American Academy of Pediatrics Section on Radiology. Diagnostic imaging of child abuse. Pediatrics. 2009;123(5):1430–1435 American College of Radiology. ACR-SPR practice parameter for the performance and interpretation of skeletal surveys in children. Revised 2016. https://www.acr.org/-/media/ACR/Files/PracticeParameters/Skeletal-Survey.pdf. Accessed November 18, 2020 Bailey DA, McKay HA, Mirwald RL, Crocker PRE, Faulkner RA. A six-year longitudinal study of the relationship of physical activity to bone mineral accrual in growing children: the University of Saskatchewan bone mineral accrual study. J Bone Miner Res. 1999;14(10):1672–1679 Barber I, Perez-Rossello JM, Wilson CR, Kleinman PK. The yield of high-detail radiographic skeletal surveys in suspected infant abuse. Pediatr Radiol. 2015;45(1):69–80 Bauer JM, Lovejoy SA. Toddler’s fractures: time to weight-bear with regard to immobilization type and radiographic monitoring. J Pediatr Orthop. 2019;39(6):314–317 Boutis K, Narayanan UG, Dong FF, et al. Magnetic resonance imaging of clinically suspected Salter-Harris I fracture of the distal fibula. Injury. 2010;41(8):852–856 Boutis K, Plint A, Stimec J, et al. Radiograph-negative lateral ankle injuries in children: occult growth plate fracture or sprain? JAMA Pediatr. 2016;170(1):e154114 Bronicki LM, Stevenson RE, Spranger JW. Beyond osteogenesis imperfecta: causes of fractures during infancy and childhood. Am J Med Genet C Semin Med Genet. 2015;169(4):314–327 Buckley L, Guyatt G, Fink HA, et al. 2017 American College of Rheumatology guideline for the prevention and treatment of glucocorticoid-induced osteoporosis. 2017;69(8):1521–1537 Campano D, Robaina JA, Kusnezov N, Dunn JC, Waterman BR. Surgical management for chronic exertional compartment syndrome of the leg: a systematic review of the literature. Arthroscopy. 2016;32(7):1478–1486 Centers for Disease Control and Prevention. Creating positive childhood experiences. https://www. cdc.gov/features/healthychildren/index.html. Accessed December 15, 2020 Chapman T, Sugar N, Done S, Marasigan J, Wambold N, Feldman K. Fractures in infants and toddlers with rickets. Pediatr Radiol. 2010;40(7):1184–1189 Christian CW; American Academy of Pediatrics Committee on Child Abuse and Neglect. The evaluation of suspected child physical abuse. Pediatrics. 2015;135(5):e1337–e1354 Crosby SN Jr, Kim EJ, Koehler DM, et al. Twenty-year experience with rigid intramedullary nailing of femoral shaft fractures in skeletally immature patients. J Bone Joint Surg Am. 2014;96(13):1080–1089 Duffy SO, Squires J, Fromkin JB, Berger RP. Use of skeletal surveys to evaluate for physical abuse: analysis of 703 consecutive skeletal surveys. Pediatrics. 2011;127(1):e47–e52 Dunn JC, Waterman BR. Chronic exertional compartment syndrome of the leg in the military. Clin Sports Med. 2014;33(4):693–705 El-Shafy IA, Delgado J, Akerman M, Bullaro F, Christopherson NAM, Prince JM. Closed-loop communication improves task completion in pediatric trauma resuscitation. J Surg Educ. 2018;75(1):58–64



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Flaherty EG, Perez-Rossello JM, Levine MA, Hennrikus WL; American Academy of Pediatrics Committee on Child Abuse and Neglect; AAP Section on Radiology; AAP Section on Endocrinology; AAP Section on Orthopaedics; Society for Pediatric Radiology. Evaluating children with fractures for child physical abuse. Pediatrics. 2014;133(2):e477–e489 Fracture evaluation and management principles. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:115–121 Fracture healing. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:122–126 Fracture splinting principles. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:127–134 Fractures about the elbow. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1109–1113 Golden NH, Abrams SA; American Academy of Pediatrics Committee on Nutrition. Optimizing bone health in children and adolescents. Pediatrics. 2014;134(4):e1229–e1243 Gordon CM, Leonard MB, Zemel BS; International Society for Clinical Densitometry. 2013 Pediatric Position Development Conference: executive summary and reflections. J Clin Densitom. 2014;17(2):219–224 [Published correction appears in J Clin Densitom 2014;17(4):517.] Grover M, Brunetti-Pierri N, Belmont J, et al. Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012;158A(9):2221–2224 Heaney RP, Abrams S, Dawson-Hughes B, et al. Peak bone mass. Osteoporos Int. 2000;11(12): 985–1009 Imaging: principles and techniques. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:135–143 Jaafar S, Sobh A, Legakis JE, Thomas R, Buhler K, Jones ET. Four weeks in a single-leg weightbearing hip spica cast is sufficient treatment for isolated femoral shaft fractures in children aged 1 to 3 years. J Pediatr Orthop. 2016;36(7):680–684 Kemp AM, Dunstan F, Harrison S, et al. Patterns of skeletal fractures in child abuse: systematic review. BMJ. 2008;337:a1518 King WK, Kiesel EL, Simon HK. Child abuse fatalities: are we missing opportunities for intervention? Pediatr Emerg Care. 2006;22(4):211–214 Kleinman PK, ed. Diagnostic Imaging of Child Abuse. 3rd ed. Cambridge, UK: Cambridge University Press; 2015 Krug SE, Tuggle DW; American Academy of Pediatrics Section on Orthopaedics; AAP Pediatrics Committee on Pediatric Emergency Medicine; AAP Section on Critical Care; AAP Section on Surgery; AAP Section on Transport Medicine; AAP Committee on Pediatric Emergency Medicine; Pediatric Orthopaedic Society of North America. Management of pediatric trauma. Pediatrics. 2008;121(4):849–854 Lemberg DA, Day AS. Crohn disease and ulcerative colitis in children: an update for 2014. J Paediatr Child Health. 2015;51(3):266–270 Leventhal JM, Martin KD, Asnes AG. Incidence of fractures attributable to abuse in young hospitalized children: results from analysis of a United States database. Pediatrics. 2008;122(3):599–604 Leventhal JM, Thomas SA, Rosenfield NS, Markowitz RI. Fractures in young children. Distinguishing child abuse from unintentional injuries. Am J Dis Child. 1993;147(1):87–92 Loubani E, Bartley D, Forward K. Orthopedic injuries in pediatric trauma. Curr Pediatr Rev. 2018;14(1):52–58

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Lycans D, Salloum E, Wingate MK, Melvin T, Buchanan GS, Shuler FD. Vitamin D deficiency: “at risk” patient populations and potential drug interactions. Marshall Journal of Medicine. 2016;2(1):47–66 Marsac ML, Kassam-Adams N, Hildenbrand AK, et al. Implementing a trauma-informed approach in pediatric health care networks. JAMA Pediatr. 2016;170(1):70–77 Minarich LA, Kirpich A, Fiske LM, Weinstein DA. Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med. 2013;14(8):737–741 Misra M, Golden NH, Katzman DK. State of the art systematic review of bone disease in anorexia nervosa. Int J Eat Disord. 2016;49(3):276–292 Mitchell PD, Brown R, Wang T, et al. Multicentre study of physical abuse and limb fractures in young children in the East Anglia Region, UK. Arch Dis Child. 2019;104(10):956–961. Pedowitz RA, Hargens AR, Mubarak SJ, Gershuni DH. Modified criteria for the objective diagnosis of chronic compartment syndrome of the leg. Am J Sports Med. 1990;18(1):35–40 Pehlivantürk Kızılkan M, Akgül S, Derman O, Kanbur N. Bone mineral density comparison of adolescents with constitutional thinness and anorexia nervosa. J Pediatr Endocrinol Metab. 2018;31(5):545–550 Pepin MG, Byers PH. What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases. Am J Med Genet C Semin Med Genet. 2015;169(4):307– 313 Pierce MC, Bertocci G. Injury biomechanics and child abuse. Annu Rev Biomed Eng. 2008;10(1):85–106 Pierce MC, Kaczor K, Acker D, et al. History, injury, and psychosocial risk factor commonalities among cases of fatal and near-fatal physical child abuse. Child Abuse Negl. 2017;69:263–277 Pierce MC, Kaczor K, Aldridge S, O’Flynn J, Lorenz DJ. Bruising characteristics discriminating physical child abuse from accidental trauma. Pediatrics. 2010;125(1):67–74 Ravichandiran N, Schuh S, Bejuk M, et al. Delayed identification of pediatric abuse-related fractures. Pediatrics. 2010;125(1):60–66 Rozenberg S, Body JJ, Bruyère O, et al. Effects of dairy products consumption on health: benefits and beliefs—a commentary from the Belgian Bone Club and the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases. Calcif Tissue Int. 2016;98(1):1–17 Rustico SE, Calabria AC, Garber SJ. Metabolic bone disease of prematurity. J Clin Transl Endocrinol. 2014;1(3):85–91 Saraff V, Högler W. ENDOCRINOLOGY AND ADOLESCENCE: Osteoporosis in children: diagnosis and management. Eur J Endocrinol. 2015;173(6):R185–R197 Schilling S, Wood JN, Levine MA, Langdon D, Christian CW. Vitamin D status in abused and nonabused children younger than 2 years old with fractures. Pediatrics. 2011;127(5):835–841 Schwend RM, Werth C, Johnston A. Femur shaft fractures in toddlers and young children: rarely from child abuse. J Pediatr Orthop. 2000;20(4):475–481 Servaes S, Brown SD, Choudhary AK, et al. The etiology and significance of fractures in infants and young children: a critical multidisciplinary review. Pediatr Radiol. 2016;46(5):591–600 Stoneback JW, Carry PM, Flynn K, Pan Z, Sink EL, Miller NH. Clinical and radiographic outcomes after submuscular plating (SMP) of pediatric femoral shaft fractures. J Pediatr Orthop. 2018;38(3):138–143 Sugar NF, Taylor JA, Feldman KW; Puget Sound Pediatric Research Network. Bruises in infants and toddlers: those who don’t cruise rarely bruise. Arch Pediatr Adolesc Med. 1999;153(4):399–403



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Vajapey S, Miller TL. Evaluation, diagnosis, and treatment of chronic exertional compartment syndrome: a review of current literature. Phys Sportsmed. 2017;45(4):391–398 Weber DR, Coughlin C, Brodsky JL, et al. Low bone mineral density is a common finding in patients with homocystinuria. Mol Genet Metab. 2016;117(3):351–354 Welling L, Bernstein LE, Berry GT, et al; Galactosemia Network (GalNet). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171–176 Williams KM. Update on bone health in pediatric chronic disease. Endocrinol Metab Clin North Am. 2016;45(2):433–441 Zemel BS, Leonard MB, Kelly A, et al. Height adjustment in assessing dual energy x-ray absorptiometry measurements of bone mass and density in children. J Clin Endocrinol Metab. 2010;95(3):1265–1273

Part 13: Foot and Ankle TOPICS COVERED 50. Foot and Ankle: General Considerations.................................... Physical Examination Accessory Centers of Ossification Footwear Assessment 51. Clubfoot................................................................................ 52. Flatfoot.................................................................................. 53. Metatarsus Adductus and Metatarsus Varus................................ 54. Pes Cavus and Cavovarus......................................................... 55. Calcaneal Valgus..................................................................... 56. Foot and Ankle: Miscellaneous Conditions.................................. Köhler Disease Freiberg Infraction/Disease Juvenile Bunions (Hallux Valgus) Bunionette (Tailors Bunion) Turf Toe Toe Deformities Simple and Complex Syndactyly of the Toes Toe Polydactyly Curly Toes Overlapping Toes Hammer Toes Claw Toes Mallet Toes



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505 511 515 519 523 525

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CHAPTER 50

Foot and Ankle: General Considerations Physical Examination

•• The most helpful part of the physical examination is to have the patient identify

their area of discomfort, and then to perform focused palpation with a single finger or thumb to identify the anatomic structure that is tender (point of maximal tenderness) (Figure 50-1). •• Tenderness along the anterior joint line of the ankle may indicate an intraarticular process. •• Swelling that is diffuse or circumferential around the ankle suggests an ankle joint effusion, a sign of intra-articular pathology. Ankle effusions are best appreciated when viewing the ankle from behind. •• Examine the foot with the patient standing, if possible, to assess foot alignment in a functional position.

Accessory Centers of Ossification

•• Accessory ossification centers are common around the foot and ankle. •• They may eventually fuse with the parent bone. •• Some persist as separate ossicles attached to parent bone by cartilage or fibrous tissue.

•• They may be confused with fractures. Accessory ossicles are typically wellcorticated and with rounded contours.

•• Accessory ossicles can become symptomatic if fibrocartilaginous connection is strained or disrupted from direct or repetitive trauma. ——Most frequently occurs at navicular bone (os naviculare) (Figure 50-2), posterior ankle (os trigonum) (Figure 50-3), and cuboid (os peroneum) ——Irritation of the os trigonum is a common cause of posterior ankle pain in activities that require considerable plantar flexion (eg, gymnastics, ballet, soccer).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Achilles tendonitis

Sesamoiditis

Sever disease Plantar fasciitis Osteochondritis dissecans Lateral ankle sprain

Iselin disease

Accessory navicular

Figure 50-1. Pain diagram of foot and ankle. Adapted from Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of ­Orthopaedic Surgeons; 2016:766. Reproduced with permission.

——Treat symptomatically with relative rest, ice, short course of nonsteroidal

anti-inflammatory medication, physical therapy, and shoe wear modifications. Surgical removal is occasionally indicated for persistent symptoms. ——Custom shoe inserts with arch support may be helpful to unload an irritated accessory navicular.



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Figure 50-2. Os naviculare (circled in blue) in a skeletally immature patient (A) and a skeletally mature patient (B).

Figure 50-3. Os trigonum (circled in blue).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Footwear Assessment

•• Evaluate general wear and condition: Particularly in athletic footwear, the midsole

is the weakest link and tends to break down after about 300 to 400 miles of wear. This leads to a significant loss of support and cushioning and may occur while the upper and outer soles still appear to be in good condition. •• Identify pressure points that may correlate with symptoms: This can be particularly problematic over the first metatarsophalangeal joint in patients with bunions, or over the metatarsal heads in patients with forefoot issues. •• Comfort is important: Although there is debate about the role of foot alignment and impact force on injury development, injury rates appear to be lower when selection of shoes and over-the-counter inserts are based on comfort. ——Cleats may benefit from added cushioning and/or support from over-thecounter inserts. Turf shoes are also an option that may be more comfortable.

CHAPTER 51

Clubfoot Introduction/Etiology/Epidemiology

•• Congenital talipes equinovarus (clubfoot) is a complex severe stiff foot deformity,

characterized by hindfoot (heel) varus and equinus, and forefoot cavus and adductus (Figure 51-1). ——Pathologically, the ligaments of the posterior aspect of the ankle and of the medial and plantar aspects of the foot are shortened and thickened. ——Calf muscles, including the gastrocnemius, tibialis posterior and anterior, and toe flexors, are shortened and smaller in size. ——Connective tissue rich in collagen tends to spread into the Achilles tendon and deep fascia. Figure 51-1. (A) Posterior view of moderate infant clubfoot deformity demonstrating heel varus, equinus, and forefoot cavus. (B) Anterior view of moderate bilateral infant clubfoot deformity demonstrating forefoot adduction.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Box 51-1. Syndromes and Disorders Associated With Clubfoot • Arthrogryposis • Myelomeningocele • Amniotic band syndrome • Proximal femoral focal deficiency • Freeman-Sheldon syndrome • Larsen syndrome • Diastrophic dwarfism

•• Clubfoot may be idiopathic or may occur as part of a disorder (eg, myelomeningocele, arthrogryposis) (Box 51-1).

•• Idiopathic clubfoot incidence varies from 0.3 to 8 per 1,000 live births. •• Males are more commonly affected than females (2:1). •• Approximately 50% of cases are bilateral. •• Clubfoot is present at birth (congenital). It is not a malformation; rather, it is a developmental disorder.

•• A normally developing foot becomes a clubfoot during the second trimester of

pregnancy. Ultrasonography can detect clubfoot after the 14th to 16th week of gestation. •• The etiology, genetics, and pathogenesis of clubfoot have not been clearly established. •• Clubfoot clusters in some families and affects family members across generations, suggesting a genetic role. ——The occurrence rate is 17 times higher for first-degree relatives compared with the general population. ——Mode of inheritance does not follow a distinctive pattern, but several studies support a single, major genetic factor.

Signs and Symptoms

•• Forefoot cavus and adductus (Figure 51-1) •• Heel varus and equinus (Figure 51-1) •• Smaller calf muscles

Differential Diagnosis

•• In rare cases, the deformity is very flexible (positional) and caused by intrauterine “packing.” This would be a flexible foot rather than a stiff deformity.

•• Metatarsus adductus (see Chapter 53), where the deformity is in the forefoot only •• Calcaneovalgus deformity (see Chapter 55) ——Hyperdorsiflexion of the foot, often with the dorsum of the forefoot resting on the anterior surface of the lower leg

——Resolves spontaneously without treatment



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Chapter 51: Clubfoot Figure 51-2. Congenital vertical talus.

•• Congenital vertical talus (very rare) (Figure 51-2) ——Commonly associated with neuromuscular and genetic disorders, including trisomy 13–15 and trisomy 18.

——Involvement is bilateral in 50% of cases.

•• Clubfoot may also be associated with a number of syndromes and disorders (see Box 51-1).

Diagnostic Considerations

•• Clubfoot is present at birth. Diagnosis is determined based on physical examination. Radiographs are not necessary.

•• In many cases, the diagnosis is established at prenatal ultrasonography.

Treatment

•• The Ponseti method of serial casting is the accepted worldwide standard for the treatment of clubfoot.

•• It is very safe, efficient, and economical, and it radically decreases the need for extensive corrective surgeries.

•• It is effective even in the most challenging and severe cases that include neglected clubfoot in young adults.

•• Technique involves gentle manipulation (stretching) and well-molded serial

casting. ——Casting can begin as early as the first 2 weeks after birth. ——Manipulation (stretching) of the foot is performed before each cast change, every 5 to 7 days (Figure 51-3). ——A series of 5 to 8 toe-to-groin casts should be sufficient to obtain the maximum correction possible (Figure 51-4). ——A simple percutaneous tenotomy of the Achilles tendon facilitates the final correction of the deformity in many cases. ——After full correction is achieved, a brace is worn 23 hours a day for 3 months and then during sleeping hours until age 4 to 5 years to prevent relapses (Figure 51-5).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 51-3. Stretching is part of the serial casting program.

Figure 51-4. Longleg cast for clubfoot deformity, part of a serial casting program.

Figure 51-5. Bracing for clubfoot abnormality after serial casting.



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Expected Outcomes/Prognosis

•• The Ponseti method results in early and full correction of all components of the deformity (Figure 51-6).

•• The more muscle atrophy and stiffness, the more resistance to correction

and the higher the possibilities for a relapse, especially if the brace is not used appropriately. •• Poor adherence to brace wearing is associated with a higher rate of relapse. •• In general, clubfoot associated with a syndrome is usually stiffer, but it still has good outcomes with conservative management (ie, the Ponseti method). •• Long-term results at an average of 34 years (range, 25–45 years) ——Seventy-eight percent of the feet had excellent or good scores (using pain and functional limitation as outcome criteria), compared with 85% in a control population of normal feet (not a statistically significant difference). Outcome is related to adherence to treatment. Figure 51-6. Feet after serial casting program for clubfoot deformity.

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Prevention

•• While there is no known prevention for clubfoot, prenatal screening is available that allows for provision of anticipatory guidance and counseling to families.

When to Refer

•• Refer to a pediatric orthopaedic specialist as soon as possible after birth.

CHAPTER 52

Flatfoot Introduction/Etiology/Epidemiology

•• Flatfoot, or loss of the medial longitudinal arch of the foot, is a common condition. •• Although normal in young children, flatfeet are a common concern among parents.

•• The (flexible) flatfoot is normal in children up to 6 years due to ——Increased ligamentous laxity ——Medial fat pad normally present at birth •• Rapid development of the medial longitudinal arch occurs during normal growth from 2 to 6 years of age due to atrophy of the medial fat pad and decline in ligamentous laxity. •• Rigid flatfeet may be associated with an underlying etiology such as tarsal coalition or congenital vertical talus.

Signs and Symptoms

•• Medial arch of the foot collapses with weight bearing. •• Physiologic (flexible) flatfoot ——Medial arch is reconstituted when non-weight bearing, with toe raise Jack

test, or with toe walking (see Chapter 4, Physical Examination, Figure 4-37).

——Usually asymptomatic

•• Nonphysiologic (rigid) flatfoot ——Medial arch is not reconstituted when non-weight bearing, with toe raise Jack test, or with toe walking.

——Passive subtalar motion is limited. ——Patients often report activity-related pain around the midfoot or hindfoot.

•• Limited ankle dorsiflexion caused by an associated tight Achilles tendon pulls the hindfoot into valgus and leads to an increased flatfoot deformity. ——Evaluate ankle dorsiflexion with the hindfoot in slight inversion to avoid dorsiflexing through the midfoot. ——Silfverskiöld test evaluates for gastrocnemius tightness versus Achilles tendon contracture „„Patients should be able to dorsiflex the ankle at least 10 degrees beyond neutral while the knee is extended, which should then increase when the knee is flexed. „„Limited dorsiflexion with an extended knee but normal dorsiflexion with a flexed knee suggests gastrocnemius tightness.

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dorsiflexion with both an extended and flexed knee suggests Achilles tendon contracture (see Chapter 4, Physical Examination, Figure 4-4).

Differential Diagnosis

•• Accessory navicular (see Chapter 50, Foot and Ankle: General Considerations, Figure 50-2) ——Will usually present with a painful and tender medial prominence •• Achilles (gastrocnemius) isolated contracture •• Congenital vertical talus ——Rocker bottom foot •• Tarsal coalition ——Most commonly calcaneonavicular or talocalcaneal ——Can involve any of the tarsal bones •• Neurogenic flatfoot is associated with many types of neurologic conditions

Diagnostic Considerations

•• Most flatfeet are flexible and can be confirmed on physical examination if the

patient has good tibiotalar and subtalar motion and there is reconstitution of the medial arch with toe walking, non-weight bearing, or toe raise Jack test (see Chapter 4, Physical Examination, Figure 4-37). •• It is also important to evaluate the rotational profile and alignment of the legs because externally rotated feet, genu valgum, and hindfoot valgus exacerbate loss of the medial arch. •• Radiographs for painless flatfeet are not necessary. •• Obtain weight-bearing anteroposterior and lateral radiographs to evaluate rigid or painful flatfeet. ——Bones of the foot are not well ossified until 5 years of age. ——To evaluate for congenital vertical talus or oblique talus, obtain a lateral radiograph of the foot in maximum dorsiflexion and maximum plantar flexion to see if the navicular reduces onto the head of the talus with plantar flexion (see Chapter 51, Clubfoot, Figure 51-2). ——In children older than 10 years, oblique views of the foot may help identify a tarsal coalition. •• Computed tomography or magnetic resonance imaging may be used to identify an occult coalition or determine the extent of a coalition (Figure 52-1). •• Radiographs should be assessed prior to advanced imaging.

Treatment

•• Asymptomatic flexible flatfeet require no specific treatment. •• Rigid flatfeet are more likely to become symptomatic without treatment.



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Chapter 52: Flatfoot

Figure 52-1. Talocalcaneal coalition: Coronal computed tomography scan of bilateral feet. The left foot (shown on the right side of this image) demonstrates a rigid flatfoot, with loss of motion of the subtalar joint and subtalar coalition (arrow).

•• Nonoperative treatment ——Orthoses or casting can be used to selectively off-load symptomatic portions of the foot.

——Soft-shoe inserts can be used to pad around a symptomatic accessory navicular.

——Stretching exercises and physical therapy for the heel cord are beneficial when the flatfoot is associated with a gastrocnemius contracture.

•• Surgery ——Consider referral for significant symptoms unresponsive to nonoperative treatment, very severe flatfeet, or rigid flatfeet.

——Procedures to lengthen recession of the gastrocnemius or remove an accessory navicular may be beneficial in some patients.

——Excision of symptomatic tarsal coalitions provides good results. ——Osteotomies involving the calcaneus (the so-called lateral column lengthening

procedure of the foot), medial cuneiform, and/or cuboid have been shown to improve bony alignment and reduce symptoms. ——Arthroereisis is a minimally invasive procedure that involves the placement of an implant between the lateral aspect of the talus and the calcaneus, usually into the sinus tarsi, which then limits the lateral movement of the calcaneus. This procedure should be discouraged due to implant loosening and damage to the subtalar joint. ——Congenital vertical talus requires casting followed by surgery to reduce the talonavicular joint.

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Expected Outcomes/Prognosis

•• Flexible flatfeet rarely become symptomatic and can be managed conservatively with excellent long-term prognosis.

•• Rigid flatfeet typically result in hindfoot or midfoot pain during adolescence and usually require surgical treatment to address the underlying etiology.

When to Refer

•• Refer adolescents with flexible flatfeet that are symptomatic and have not

responded to orthoses and activity modification to a sports medicine physician or orthopaedic specialist. •• Refer any rigid flatfoot to a pediatric orthopaedic surgeon.

Resource for Physicians and Families

•• https://orthoinfo.aaos.org/topic.cfm?topic=a00046

CHAPTER 53

Metatarsus Adductus and Metatarsus Varus Metatarsus Adductus INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Metatarsus adductus (MTA) is a common foot deformity. •• The forefoot deviates medially with respect to the hindfoot, giving the foot a bean-shaped appearance such that the lateral aspect of the foot is convex.

•• Incidence is 1 per 1,000 live births. •• Some authors have postulated a relationship between MTA and hip dysplasia

because of in utero positioning and molding. The incidence of hip dysplasia in children with MTA ranges from 1% to 13% in some series, while others have found no correlation between the 2 disorders.

SIGNS AND SYMPTOMS

•• One or both feet curve medially (Figure 53-1). •• The forefoot is flexible and can easily be positioned into normal alignment with the hindfoot.

Figure 53-1. Heel bisector line to evaluate medial deviation of the foot at the tarsometatarsal joint. Reprinted with permission from Bleck WW. Developmental orthopaedics III: toddlers. Develop Med Child Neurol. 1982;24:533-534.

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•• The examiner can stimulate the inside and outside of the foot, which stimulates the foot to abduct. Active correction of the deformity by the child is a good prognostic factor.

DIFFERENTIAL DIAGNOSIS

•• Metatarsus varus •• A “searching” or “seeking” great toe ——The tendency for the foot to deviate medially may not be noticed at birth.

When the child stands and walks, the great toe abductor muscles pull the forefoot medially due to a primitive grasping reflex. ——Not true with MTA. •• Clubfoot ——The most important distinction between MTA and clubfoot is that in MTA the ankle and hindfoot are flexible. ——Although the infant may hold the foot in an equinovarus position, the MTA foot can be easily manipulated into a normal foot posture. DIAGNOSTIC CONSIDERATIONS

•• MTA is a clinical diagnosis. •• Radiographs of the feet are not necessary to diagnose or assess results of treatment. •• Routine pelvic radiography or hip ultrasonography in children with foot

deformities is not necessary unless there are other risk factors or physical findings suggestive of hip dysplasia.

TREATMENT

•• In most cases, no treatment is necessary. •• MTA feet will develop normally and fit into regular shoes. •• Manipulations for MTA have not been proven to improve the long-term function of the foot. However, stretching the feet is not harmful.

•• The patient can be fitted with straight or reverse last shoes. ——Straight or reverse last shoes are worn full-time until the child can stand, and then only while sleeping until a normal foot position is maintained.

EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent for normal function and normal shoe wear throughout life. WHEN TO REFER

•• If the deformity is no longer flexible, refer to a pediatric orthopaedic surgeon.

Metatarsus Varus INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Metatarsus varus is an uncommon, rigid deformity of the forefoot. •• The forefoot deviates medially with respect to the hindfoot, giving the foot a bean-shaped appearance such that the lateral aspect of the foot is convex.



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SIGNS AND SYMPTOMS

•• One or both feet curve medially. •• Feet have a deep medial crease and are stiff, so that the forefoot is difficult to manipulate into normal alignment with the hindfoot.

DIFFERENTIAL DIAGNOSIS

•• MTA •• A “searching” or “seeking” great toe ——The tendency for the foot to deviate medially may not be noticed at birth.

When the child stands and walks, the great toe abductor muscles pull the forefoot medially due to a transient, primitive grasping reflex. •• Clubfoot ——The most important distinction between metatarsus varus and clubfoot is that in metatarsus varus the ankle and hindfoot are flexible. ——Although the infant may hold the foot in an equinovarus position, the foot can be easily manipulated into a normal foot posture. DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be determined clinically. •• Radiography or other imaging of the feet is not necessary. TREATMENT

•• Weekly, gentle manipulation and casting of the feet to stretch the medial structures

•• Change casts each week until the foot is flexible. Best results occur in patients younger than 8 months.

EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is excellent for normal function and shoe wear throughout life. •• Rarely, surgical treatment is necessary if casting is ineffective. The most common surgical procedures for metatarsus varus include abductor hallucis recession, medial release of the soft tissues and midfoot joints, and metatarsal osteotomies or osteotomy of the medial cuneiform and cuboid, after age 4 years.

WHEN TO REFER

•• Refer patients with metatarsus varus to an orthopaedic surgeon before 8 months of age for serial casting.

CHAPTER 54

Pes Cavus and Cavovarus Introduction/Etiology/Epidemiology

•• Pes cavus is a high-arched foot. •• Pes cavovarus is a high-arched foot with a plantar flexed first ray, forefoot pronation or adduction, and a variable degree of hindfoot varus.

•• The high arch is caused by tight plantar fascia and variable weakness of the foot intrinsic muscles, peroneals, or anterior tibialis.

•• Pes cavus and cavovarus are seen usually in children older than 3 years. •• These conditions may be idiopathic, but a neurogenic cause is eventually

identified in up to 66% of patients with pes cavus or pes cavovarus. Neurologic etiologies include central nervous system abnormalities, spinal abnormalities, peripheral neuropathies, and isolated nerve injury (Box 54-1).

Box 54-1. Etiology of Pes Cavus and Cavovarus Neurologic—no. 1 cause; estimated at about 66% • Charcot-Marie-Tooth disease • Friedreich ataxia • Roussy-Lévy syndrome • Poliomyelitis • Cerebral palsy • Dejerine-Sottas hypertrophic interstitial neuritis

Congenital • Spina bifida • Talipes equinovarus • Myelodysplasia • Clubfoot

Iatrogenic • Post surgery or trauma –– Peroneal nerve injury –– Weak anterior muscles –– Overpowering posterior muscles

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Box 54-1. Etiology of Pes Cavus and Cavovarus, continued Infection • Syphilis • Poliomyelitis

Idiopathic • Must be considered Figure 54-1. Clinical photograph of cavus foot abnormality.

Signs and Symptoms

•• High arches, tall midfoot (Figure 54-1) •• Flexibility of the deformity is determined by inverting and everting the hindfoot.

Early in the pathogenesis of pes cavus the hindfoot varus may be flexible, but as the deformity progresses the hindfoot varus becomes more rigid. •• Toe walking with inability to lower heels •• Pain or calluses under base of the fifth metatarsal •• Recurrent ankle sprains ——When the foot is in the weight-bearing position, it functions as a tripod with weight evenly distributed between the heel and the first and fifth metatarsal heads. In pes cavovarus, the first ray is plantar flexed, so the heel must tilt into varus to maintain the tripod. This tendency to tilt into varus makes walking on uneven terrain difficult. The ankle and hindfoot may roll inward, causing a lateral ankle sprain. •• Parents will note that the feet are not growing. The length of the foot may appear short, but the height of the foot may be increasing because of worsening cavus. •• There may be signs and symptoms or family history of neuromuscular disease.

Differential Diagnosis

•• Tarsal coalition •• Thorough evaluation for neuromuscular etiology (see Box 54-1)



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Diagnostic Considerations

•• The diagnosis can be established clinically, but weight-bearing radiographs may

be helpful to confirm. Coleman block test determines flexibility of the hindfoot (Figure 54-2). •• Cavovarus is defined by plantar flexion of the first ray (talo-first metatarsal angle > 15 degrees), seen on a lateral, weight-bearing foot radiograph (Figure 54-3). •• Because the cavus foot frequently results from a neuromuscular disease, thorough evaluation of motor strength, sensation, and reflexes is essential. Family history and possibly a referral to a geneticist may be helpful in the diagnostic workup because many neuromuscular diseases are hereditary.

Treatment

•• The goals of treatment are to obtain a mobile, pain-free, stable, motor-balanced foot that fits in a shoe and allows weight-bearing function.

•• For the minimally symptomatic patient, orthoses that pad the metatarsal heads and extra-depth shoes may be helpful.

•• Ankle support splints may reduce the risk of ankle sprains in the child who wishes to remain active.

Figure 54-2. The Coleman block test. The position of the hindfoot is assessed with the lateral two to three rays on the block, allowing the first ray to drop down. From Heaver C, Chatterton B, Hill S. Correction of neurological deformity in the foot and ankle. Orthopaedics and Trauma. 2020;34(1):44–51. © 2020, with permission from Elsevier.

Figure 54-3. Talo-first metatarsal angle (Meary angle). A line drawn through the long axis of the talus should be in line with a line drawn through the first metatarsal. Normal is 0 to 15 degrees of plantar flexion. Any sag in this angle (negative Meary angle) is called pes planus.

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•• Night splints can be helpful early in the pathogenesis of cavus to help prevent worsening contractures.

•• An ankle-foot orthosis may be used for a foot drop with ankle dorsiflexion weakness.

•• Nonoperative measures are usually temporary. Surgical intervention often becomes necessary as nonoperative management becomes less effective.

Expected Outcomes/Prognosis

•• Idiopathic: long-term prognosis is good for normal adult activities, even if surgical treatment is needed.

•• Neurogenic: some etiologies may cause progressively worsening weakness,

resulting in greater disability over time. Long-term results are much better for a cavus foot with a nonprogressive neuropathy.

When to Refer

•• On presentation, refer to a pediatric orthopaedic specialist, neurologist, and/or geneticist to direct workup and treatment.

CHAPTER 55

Calcaneal Valgus Introduction/Etiology/Epidemiology

•• In calcaneal valgus, the foot is in extreme dorsiflexion with the dorsal surface touching the anterior shin.

•• This condition is perhaps the most common nonserious foot condition seen in the newborn nursery.

•• Intrauterine positioning generally causes this deformity. •• Mild calcaneal valgus occurs in up to 30% of newborns. •• Severe calcaneal valgus is seen in 1 per 1,000 newborns.

Signs and Symptoms

•• Top of foot rests against the front of the shin (Figure 55-1) •• The ankle and hindfoot are flexible enough to easily correct the deformity.

Differential Diagnosis

•• May be associated with a posteromedial bow of the tibia. Apex of the deformity will be just above the ankle, and there may be a shortened tibia.

•• If there is deficient activity of the plantar flexors, the workup should include

evaluation of the spine for myelomeningocele, lipomyelomeningocele, or other neurologic cause. •• If the hindfoot is rigid (ie, rocker bottom deformity), consider the possibility of congenital vertical talus. Figure 55-1. Calcaneal valgus. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1077. Reproduced with permission.

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Diagnostic Considerations

•• Calcaneal valgus is a clinical diagnosis. •• Imaging is not necessary when the deformity is flexible. •• Evaluate motor function of the foot by gently stroking the top, bottom, medial, and lateral sides of the foot. The foot should move actively in each direction.

Treatment

•• No treatment is necessary. •• Reassure families that the foot position will improve spontaneously within a few days to a few weeks after birth.

•• If associated deformity is located at the tibia, this represents posteromedial

bowing of the tibia. This does resolve with observation, but merits referral to a pediatric orthopaedic specialist because these patients can develop a limb-length discrepancy later in life.

Expected Outcomes/Prognosis

•• Calcaneal valgus corrects spontaneously within a few weeks. •• By the time the child begins to walk, the foot is generally normal or may have a mild, flexible flatfoot posture.

•• The long-term prognosis is excellent.

When to Refer

•• Refer to a pediatric orthopaedic specialist or neurosurgeon if there is any question of neurologic cause, if the foot is not flexible, or if the deformity is due to posteromedial bowing of the tibia.

CHAPTER 56

Foot and Ankle: Miscellaneous Conditions Köhler Disease INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Köhler disease refers to osteochondrosis of the tarsal navicular. •• It most commonly presents in boys between 4 and 7 years of age. •• Ossification of the navicular begins between 18 and 36 months of age, and the

navicular is the last tarsal bone to ossify. ——Compression of the nonossified navicular between the other tarsal bones may lead to compromise of its tenuous blood supply and subsequent osteonecrosis. Multiple etiologic factors have been implicated, including macrotrauma or microtrauma (minor trauma) and vascular insult, but most cases are considered idiopathic. •• Irregularities in navicular ossification may be found in up to 20% to 30% of children. •• Many children with radiographic findings consistent with Köhler disease are asymptomatic. SIGNS AND SYMPTOMS

•• Insidious onset of medial midfoot pain, particularly after running or activity •• Tenderness over the navicular; there may also be swelling. •• Gait may be antalgic. DIFFERENTIAL DIAGNOSIS

•• Symptomatic accessory navicular bone (see Chapter 50, Foot and Ankle: General Considerations, Figure 50-2)

•• Navicular stress fracture: tenderness of the navicular in adolescent athletes (particularly females) raises suspicion.

•• Posterior tibial tendon dysfunction, especially in children with pes planus •• Osteomyelitis: Köhler disease will not produce changes in C-reactive protein level or erythrocyte sedimentation rate

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 56-1. Köhler disease: Lateral radiograph of the foot showing a shattered, fragmented navicular (arrowhead). Reproduced with permission from Kasser JR, ed. Orthopaedic Knowledge Update 5. Rosemont, IL: American Academy of Orthopaedic Surgeons; 1996:503–514.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is established based on physical examination and radiographs. •• Anteroposterior (AP), lateral, and oblique radiographs reveal sclerosis and collapse of the navicular (Figure 56-1).

•• Because many asymptomatic children have radiographic irregularities of the

navicular, diagnosis of Köhler disease depends on symptoms, not radiographic appearance alone.

TREATMENT

•• Goal is to achieve pain-free ambulation •• Initial strategies include activity modification, changing shoe type, and over-the-

counter shoe orthoses with medial arch support. ——If significant symptoms or gait alterations persist, a pediatric walking boot, casting, or custom orthoses may be considered. •• While symptoms may resolve sooner with casting for 6 to 8 weeks, casting does not seem to affect long-term outcome. •• Return to full activities and sports ——Allowed as symptoms abate, usually within 8 to 10 weeks ——Radiographic normalization may take several years and should not be used to determine return to activity. EXPECTED OUTCOMES/PROGNOSIS

•• Natural history is for complete resolution with time. •• Long-term outcome is universally favorable without long-term sequelae, regardless of treatment choice.

WHEN TO REFER

•• If activity modification does not relieve symptoms within 2 to 3 weeks, refer for

custom shoe orthoses or to a pediatric orthopaedic specialist for possible casting.



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Freiberg Infraction/Disease INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Freiberg infraction is osteochondrosis of any of the lesser metatarsal heads. •• This condition most commonly affects the second metatarsal. •• It typically presents between 11 and 17 years of age. •• Female-to-male ratio is about 5:1 •• Multiple etiologic factors have been implicated, including repetitive microtrauma and vascular embarrassment.

•• Feet with a second toe longer than the first (also known as a Morton toe)

(Figure 56-2) are at greater risk, probably because of increased mechanical stress across the longer toe.

SIGNS AND SYMPTOMS

•• Insidious onset of forefoot pain and swelling that worsens with activity •• Tenderness over the involved metatarsophalangeal (MTP) joint •• Pain and limitation with passive MTP joint motion •• Gait may be antalgic. DIFFERENTIAL DIAGNOSIS

•• Stress fractures in the foot are most common in the second metatarsal and in feet with a long second ray but tend to produce pain and tenderness more proximally along the metatarsal, rather than directly over the MTP joint. •• Morton neuroma will be most tender in the intermetatarsal space, which may have a palpable nodule. •• Metatarsalgia is nonspecific pain of one or more metatarsals. DIAGNOSTIC CONSIDERATIONS

•• Radiographs (AP, lateral, and oblique views) may reveal the deformity

(Figure 56-3), although they are often normal during the first several weeks of symptoms. Figure 56-2. Morton toe, bilateral hallux valgus, and bunions in an adolescent dancer. Photo courtesy of Eliza Lussier, PT.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 56-3. Radiograph showing Freiberg infraction. Note flattening and fragmentation at the head of the second metatarsal (arrow). From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1039. Reproduced with permission.

•• Bilateral AP views are helpful for comparison because findings may be subtle. •• Magnetic resonance imaging or bone scan may identify early subchondral changes.

TREATMENT

•• Goal is pain-free ambulation •• Activity modifications, followed by gradual increase in activity as symptoms allow •• Shoes with a wider toe box and rigid support under the forefoot, or shoe orthoses, such as a metatarsal bar or pad just proximal to the MTP joint, may help reduce pain with ambulation. •• Immobilization in a cast or boot, or a period of non-weight bearing, is sometimes required during the acute phase (6–12 weeks). •• Some experts consider surgical intervention after a 6-month trial of conservative treatment. EXPECTED OUTCOMES/PROGNOSIS

•• Long-term outcomes are variable and may include joint stiffness or persistent discomfort.

•• Best results occur with early recognition and initiation of conservative or surgical treatments that may enhance remodeling of the MTP joint



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•• Cases identified late may require resection rather than reconstruction of the joint, with outcomes that may be less favorable.

WHEN TO REFER

•• If activity modification does not relieve symptoms within 2 to 3 weeks, refer for shoe orthoses or to a pediatric orthopaedic specialist for possible casting.

•• Refer to a pediatric orthopaedic specialist for persistent symptoms after 6 months of nonoperative management.

PREVENTION

•• Minimizing use of high heels and maintaining adequate calf muscle flexibility

reduces mechanical stress across the forefoot and may help prevent symptoms in susceptible individuals.

Juvenile Bunions (Hallux Valgus) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Juvenile bunions are a valgus deformity of the first MTP joint. •• They tend to be bilateral and familial. •• They are common in pediatric and adult populations. •• Juvenile bunions usually present in early to mid-adolescence and may be a

different entity than those presenting in adults, with a more favorable natural history and less arthrosis. •• Female-to-male ratio is about 3:1 •• Commonly associated with flexible pes planus and generalized ligamentous laxity •• Activities that place increased stress across the MTP joint, such as dance and gymnastics, and shoes with narrow toe boxes, may contribute to bunion formation in susceptible individuals. SIGNS AND SYMPTOMS

•• Inspection in weight-bearing position reveals the characteristic medial prominence of the first MTP joint (see Figure 56-2 and Figure 56-4).

•• There may be an overlying bursa with erythema or inflammation, but this is much less common in children than in adults.

•• Metatarsal-phalangeal joint range of motion should be assessed but is usually preserved in adolescent bunions.

DIFFERENTIAL DIAGNOSIS

•• Sesamoiditis or sesamoid stress fracture produces pain over plantar aspect of MTP joint

•• Turf toe (see “Turf Toe” section later in this chapter) DIAGNOSTIC CONSIDERATIONS

•• Physical examination identifies valgus at first MTP joint (see Figure 56-2 and Figure 56-4)

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 56-4. Adolescent with hallux valgus, bunion, bunionette, and fourth and fifth curly toes.

•• Imaging is generally not necessary in minor cases. •• If the deformity is severe or if there is concern about rapid progression,

radiographs may be helpful (Figure 56-5). ——Weight-bearing AP radiographs are inspected for bony congruence of the MTP joint. ——Valgus angulation of the MTP joint and the intermetatarsal angle between the first and second metatarsal are measured. ——Angle measures serve as a marker for progression if serial radiographs are obtained.

TREATMENT

•• Asymptomatic bunions do not require treatment. •• Patients with painful bunions should be advised to select shoes that do not compress the involved region and to avoid high heels.

•• Medial arch supports (commonly sold over the counter as anti-pronation

orthoses) may also help relieve MTP pressure in patients with bunion and a flexible pes planus. •• For overlying hot spots, donut padding may help relieve any pressure over the region. •• Once appropriate shoes and protection are obtained, normal activities and athletic participation can often continue. •• Surgery is associated with high recurrence and complication rates, and it is appropriate for adolescent patients with significant pain despite prolonged attempts at conservative management.



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Figure 56-5. Hallux valgus severity is assessed by measuring the hallux valgus angle and the intermetatarsal (IM) angle on a weight-bearing anteroposterior (AP) radiograph of the foot. A, Diagram showing the hallux valgus angle and the IM angle. B, AP radiograph of the feet of a patient with hallux valgus demonstrates IM angle of 14 degrees in the left foot and 17 degrees in the right foot. Note lateral displacement of sesamoids. Part A is adapted with permission from Pedowitz W. Bunion deformity, in Pfeffer G, Frey C, eds. Current Practice in Foot and Ankle Surgery. New York, NY: McGraw Hill; 1993:219–242. Reproduced with permission from McGraw Hill LLC. Part B is reproduced with permission from Sarwark JF, ed. Essentials of Musculoskeletal Care. 4th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2010:859.

EXPECTED OUTCOMES/PROGNOSIS

•• Most respond to nonoperative treatment. •• Outcomes after surgery are highly variable. Most studies report complications in

14.3% to 16.7% of patients. Athletes, and dancers in particular, may be unable to return to their previous level of performance after surgical intervention if MTP range of motion is compromised.

WHEN TO REFER

•• Refer to a pediatric orthopaedic surgeon for significant pain despite compliance with conservative measures.

PREVENTION

•• Symptoms can often be prevented by choosing footwear with toe boxes wide enough to accommodate the MTP joint without causing undue pressure over the region.

Bunionette (Tailors Bunion) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A bunionette (see Figure 56-4) is a deformity of the fifth MTP joint. •• Widened intermetatarsal angle could be caused by genetic or anatomic abnormality

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•• Activities that place increased stress across the fourth to fifth MTP joint and/ or a supinated gait may contribute to bunionette formation in susceptible individuals.

SIGNS AND SYMPTOMS

•• Inspection in weight-bearing position reveals lateral prominence of the fifth MTP joint; callus may be present.

•• Redness or tenderness directly over the fifth MTP is seen with an overlying bursitis.

DIFFERENTIAL DIAGNOSIS

•• Metatarsal fracture or stress fracture DIAGNOSTIC CONSIDERATIONS

•• Physical examination identifies varus deformity at the fifth MTP joint (see Figure 56-4).

•• Imaging is generally not necessary. •• If the deformity is severe or if there is concern about rapid progression, weight-

bearing AP radiographs may be helpful and are inspected for bony congruence of the MTP joint. ——Varus angulation of the MTP joint and the intermetatarsal angle between the fourth and fifth metatarsal are measured. ——Angle measures serve as a marker for progression if serial radiographs are obtained.

TREATMENT

•• Asymptomatic bunionette does not require treatment. •• Patients with painful bunionette should be advised to select shoes that do not compress the involved region and to avoid high heels.

•• For overlying hot spots, donut padding may help relieve any pressure over the region.

EXPECTED OUTCOMES/PROGNOSIS

•• Most respond to nonoperative treatment. WHEN TO REFER

•• Refer to a pediatric orthopaedic surgeon for significant pain despite compliance with conservative measures.

PREVENTION

•• Symptoms can often be prevented by choosing footwear with toe boxes wide enough to accommodate the MTP joint without causing undue pressure over the region. However, this probably does not affect the development of the deformity itself.



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Turf Toe INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Turf toe is a sprain or other injury of the first MTP joint caused by hyperextension

(or, less commonly, hyperflexion) of the great toe. •• Mechanism of injury is generally repetitive forceful dorsiflexion injury from pushing off in athletic competition or “jamming” of the toe •• Risk factors include type of sport, intensity of competition, and type of playing surface. •• There is an increased risk in youth who participate in sports such as American football, soccer, tennis, and basketball. •• Increased prevalence of artificial turf is thought to have increased the incidence of turf toe because of increased friction between the athlete and the playing surface. •• Injuries are graded based on severity. ——Grade I: Stretch of the plantar capsular ligament ——Grade II: Partial rupture of plantar capsular ligament ——Grade III: Complete tear of the plantar capsular ligamentous complex SIGNS AND SYMPTOMS

•• Patients may experience swelling, discoloration, and pain at the first MTP joint. •• Malalignment and “new onset” of bunion-type deformity may occur in more severe injuries.

DIFFERENTIAL DIAGNOSIS

•• Sesamoiditis and sesamoid stress fractures cause pain over the plantar aspect of the first MTP and are generally related to overuse or repetitive impact.

DIAGNOSTIC CONSIDERATIONS

•• History and mechanism of injury are key to diagnosis. •• Inspection often reveals swelling and ecchymosis. •• Focused palpation reveals tenderness distal to the sesamoids on the plantar aspect of the first MTP joint.

•• Active and passive range of motion testing of the first MTP is painful. More severe injuries have limited range of motion and weakness with flexion of the first toe.

•• Modified Lachman test and varus and valgus stress tests should be compared to

the uninjured side to assess stability ——Modified Lachman test is performed by stabilizing the metatarsal and attempting to translocate the proximal phalanx superiorly and inferiorly (Figure 56-6). •• Radiographs of the affected foot as well as comparison radiographs of the unaffected foot may reveal fracture or displacement of the sesamoids. ——Sesamoids will migrate proximally with rupture of the plantar plate in grade III injuries. ——Stress views in forced dorsiflexion may be necessary to demonstrate changes in sesamoid position. •• Magnetic resonance imaging may help to grade severity of injury.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 56-6. Modified Lachman test (ie, anterior drawer test) on metatarsophalangeal joint. Hold the distal metatarsal to stabilize and firmly translocate the proximal phalanx in superior and inferior directions.

TREATMENT

•• Initial treatment is rest, ice, and anti-inflammatory medications for symptom control.

•• Minimize MTP extension with a shoe with a stiff sole or a walking boot. More

severe injuries may require casting and/or crutches. When athletes are ready to return to play, they may benefit from taping the MTP in slight plantar flexion (Figure 56-7) and use of a stiff toe plate (carbon fiber insert). ——Grade I injuries will typically improve rapidly with several days of protection, and return to play may occur as tolerated. ——Grade II injuries typically improve over several weeks in a boot or cast. ——Grade III injuries may require 8 weeks of immobilization, and full recovery may take 6 months or longer.

EXPECTED OUTCOMES/PROGNOSIS

•• Long-term outcomes are variable depending on grade of injury and management. Most patients return to prior level of function, but some may develop joint stiffness or persistent discomfort.



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Figure 56-7. Tape or self-adherent compression wrap for “turf toe” prevents dorsiflexion and protects injuries to the metatarsophalangeal plantar plate.

WHEN TO REFER

•• Injuries involving intra-articular fractures, instability on examination, or

alterations in sesamoid or joint alignment, and those for whom several weeks of conservative management does not yield improvement, should be referred to an orthopaedic surgeon.

PREVENTION

•• Symptoms can often be prevented by choosing footwear with stiff soles as appropriate to decrease the likelihood of hyperextension/dorsiflexion of the MTP joint.

Toe Deformities Table 56-1 provides an overview of toe deformities. SIMPLE AND COMPLEX SYNDACTYLY OF THE TOES Introduction/Etiology/Epidemiology

•• Syndactyly is a webbing between adjacent toes. •• Syndactyly may be partial (fusion between part of the 2 fingers) or complete (fusion all the way from the base to the tip).

•• Simple syndactyly involves fusion of the soft tissue elements, whereas complex syndactyly involves bony fusion of the involved digits.

•• The second and third toes are the most commonly involved. •• This condition occurs in up to 2 per 1,000 live births.

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Table 56-1. Description and Treatment of Toe Deformities Deformity

Brief Description

Treatment

Syndactyly (simple and complex)

Webbing/fusion between adjacent toes

Most do not require treatment. Surgery is considered for syndactyly between the first and second toes or if differential growth is causing angular deformities.

Toe polydactyly

Extra digits on feet

Surgical removal is generally preferred

Curly toes

Rotated and flexed toes (usually fourth and fifth digits) with varus deformity at PIP joint due to congenital shortening of respective tendons

Nonoperative: Observation. Newborn taping may be of benefit, but stretching and splinting do not affect natural history.

Contracture of tendons causing toe to overlap with adjacent toe

Nonoperative: Usually expectant management, but taping in newborn period may be of benefit.

Overlapping toes

Operative: Consider tenotomy vs PIP joint fusion if deformity is painful or interferes with function.

Operative: Tendon release with persistent pain or shoe-fitting problems. Hammer toes

Claw toes

Mallet toes

Congenital or acquired fixed flexion deformity at PIP joint without rotation

Nonoperative: Appropriate footwear, passive stretching, taping, padding.

Dorsiflexion of the proximal phalanx at the MTP joint, and plantar flexion at the PIP and DIP joints. Associated with neurologic injury/nerve damage.

Nonoperative: Ensure appropriate footwear with wide toe box; consider metatarsal bar/ pad.

Fixed plantar flexion at the DIP joint. Usually acquired due to trauma or imbalance of toe musculature.

Nonoperative: Ensure appropriate footwear, passive stretching, taping.

Operative: Consider joint fusion with persistent pain or shoe-fitting problems.

Operative: Consider tendon release/transfer with persistent pain or shoe-fitting problems.

Operative: Consider joint fusion with persistent pain or shoe-fitting problems.

Abbreviations: DIP, distal interphalangeal joint; MTP, metatarsophalangeal joint; PIP, proximal interphalangeal joint.

•• It is frequently inherited as an autosomal-dominant trait with variable penetrance. •• Although usually an isolated finding, syndactyly may occur in conjunction with polydactyly (polysyndactyly) or with other genetic syndromes.

Signs and Symptoms

•• Usually identified shortly after birth by its straightforward appearance Diagnostic Considerations

•• Isolated syndactyly does not require imaging. •• Screen for stigmata of associated genetic syndromes, particularly if syndactyly involves the great toe.



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Treatment

•• Most cases of syndactyly do not require treatment. •• Surgical correction can be performed if angulation of the digits develops with growth, or for significant cosmetic concerns.

Expected Outcomes/Prognosis

•• Usually remains painless without creating significant gait or footwear difficulties When to Refer

•• Refer to a pediatric orthopaedic surgeon ——If angulation of the digits develops with growth ——For significant cosmetic concerns TOE POLYDACTYLY Introduction/Etiology/Epidemiology

•• Extra digits on the feet constitute toe polydactyly. •• About one third of cases have a positive family history. •• In the United States, postaxial polydactyly (extra digit lateral to fifth ray) is more

common in Black persons (11.1–13.5 per 1,000) than in white persons (0.4–2.3 per 1,000). •• Polydactyly of the toes is usually isolated but may be accompanied by polydactyly of the fingers or associated with one of many genetic syndromes, most frequently trisomy 13 syndrome, Meckel syndrome, or Down syndrome. •• Isolated polydactyly is autosomal dominant. •• Syndromic polydactyly is usually autosomal recessive. •• Postaxial polydactyly is the most common type (80%) and is most easily treated. •• Central polydactyly (extra digit medial or lateral to second, third, or fourth rays) is rare. Signs and Symptoms

•• Polydactyly is typically identified at birth or on prenatal ultrasonography. Diagnostic Considerations

•• If identified on prenatal ultrasonography, follow-up ultrasonography should occur between 17 and 34 weeks with biometric profile to determine if the polydactyly is isolated. •• Screen for commonly associated genetic syndromes (Box 56-1). •• Radiographs of the foot assist with treatment planning by identifying any bony articulations or presence of extra metatarsals. Treatment

•• Removal of extra digits is warranted due to frequent difficulties with footwear and ambulation, as well as psychosocial concerns.

•• Surgery is elective and should be postponed until after infancy (between 12 and 24 months of age), when the brain is less susceptible to adverse effects of anesthesia.

•• If the extra digit is rudimentary and consists merely of soft tissue, a ligaclip can be used and the digit can be sharply removed. This leaves a more cosmetic scar and no lump.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Box 56-1. Genetic Syndromes Associated With Polydactyly Acrocallosal syndrome Bardet-Biedl syndrome Basal cell nevus syndrome Biemond syndrome Ectrodactyly-ectodermal dysplasias-cleft lip/palate syndrome Ellis-van Creveld syndrome McKusick-Kaufman syndrome Meckel-Gruber syndrome Mirror hand deformity (ulnar dimelia) Mohr syndrome Oral-facial-digital syndrome Pallister-Hall syndrome Rubinstein-Taybi syndrome Short rib polydactyly Vertebral (defects), (imperforate) anus, tracheoesophageal (fistula), radial, and renal (dysplasia) (VATER) association

When to Refer

•• More fully formed digits and those with any corresponding metatarsal should be referred for surgical removal.

Expected Outcomes/Prognosis

•• Postaxial polydactyly has the best surgical results. •• Preaxial polydactyly and complex deformities are more likely to have poor surgical results.

•• Central polydactyly frequently leads to permanent widening of the foot even

after removal. In cases in which the widening causes symptoms or difficulty with function, the foot can be narrowed with a ray resection.

CURLY TOES Introduction/Etiology/Epidemiology

•• Curly toes are the most common lesser toe deformity. •• The deformity results from congenital shortening of the flexor digitorum longus and brevis tendons. •• It typically results in rotated toes flexed at the proximal interphalangeal (PIP) joint with varus alignment. •• Fourth and fifth toes are the most commonly involved •• This condition is often familial and bilaterally symmetric. Signs and Symptoms

•• Physical examination reveals flexed and rotated digits (see Figure 56-4).



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•• Passive dorsiflexion of the foot further shortens the flexor tendons and exaggerates the deformity.

•• Passive plantar flexion allows the toes to straighten. Differential Diagnosis

•• Hammer toes Diagnostic Considerations

•• If the examination findings are straightforward, imaging is not necessary. Treatment

•• Shoe wear modification with wide toe box. •• Stretching of the toes and use of toe spacers are common, but they probably do

not significantly affect the natural history of the problem. Some evidence suggests that taping in the newborn period may be of benefit, however. •• Tenotomy may be considered for preschool-aged children with persistent significant deformities. •• Older children may require fusion of the PIP joint. Expected Outcomes/Prognosis

•• Most will resolve spontaneously •• Persistence of the deformity may result in nail deformities or irritation as well as callus formation. This may require flexor tendon release of the involved toe.

When to Refer

•• Refer to a pediatric orthopaedic surgeon ——Preschool-aged children with persistence of significant deformities OVERLAPPING TOES Introduction/Etiology/Epidemiology

•• Overlapping toes are a common congenital lesser toe deformity that is often bilateral and familial.

•• Contracture of the extensor digitorum longus results in an extended, adducted, and externally rotated toe, causing it to overlap the adjacent toe.

Signs and Symptoms

•• Physical examination reveals the deformity. •• A dorsal callus is common in older patients. Diagnostic Considerations

•• Diagnosis is established clinically; imaging is not necessary. Treatment

•• Initial management is expectant, but some authors have reported improvement with taping in the newborn period.

•• For persistent pain or shoe-fitting problems, release of the tendon and accompanying contracture of the MTP joint may be performed.

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Expected Outcomes/Prognosis

•• Overlapping second, third, or fourth toes usually correct spontaneously. •• Overlapping fifth toe is more often permanent, and up to 50% of patients will have callus formation and difficulty with shoe wear.

When to Refer

•• Refer patients with persistent pain or shoe-fitting problems to a pediatric orthopaedic surgeon.

HAMMER TOES Introduction/Etiology/Epidemiology

•• Hammer toe is a fixed flexion deformity of the PIP joint (Figure 56-8). •• The condition may also be acquired by wearing shoes that are too short or narrow.

•• Rotation is not present. •• The second toe is most commonly involved. Signs and Symptoms

•• Physical examination reveals flexed digits. •• A corn on the top of the toe and a callus on the sole of the foot may develop, which can make walking painful.

•• Passive dorsiflexion of the foot further shortens the flexor tendons and exaggerates the deformity.

•• Passive plantar flexion allows the toes to straighten. MTP

Hammer Toe

PIP

DIP

Figure 56-8. Schematic comparison of hammer toe, claw toe, and mallet toe. Abbreviations: DIP, distal interphalangeal joint; MTP, metatarsophalangeal joint; PIP, proximal interphalangeal joint. Original by Jarrod Tembreull, MD.

Claw Toe

Mallet Toe



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Differential Diagnosis

•• Curly toes Diagnostic Considerations

•• If the examination findings are straightforward, imaging is not necessary. Treatment

•• Nonoperative treatment options include appropriately sized shoes with wide toe box, passive stretching, buddy taping, and corn pads.

•• Surgery (interphalangeal joint fusion) may be necessary for adolescents with persistent pain or shoe-fitting problems.

Expected Outcomes/Prognosis

•• Pain usually resolves with nonoperative treatment, although the deformity may persist.

•• Surgery is rarely necessary. When to Refer

•• Refer adolescents with persistent pain or shoe-fitting problems to a pediatric orthopaedic surgeon.

Prevention

•• Ensure children wear appropriately sized shoes. •• Monitor children’s shoe size frequently during periods of rapid growth. CLAW TOES Introduction/Etiology/Epidemiology

•• Claw toes are a dorsiflexion of the proximal phalanx at the MTP and plantar flexion at the PIP and distal interphalangeal (DIP) joint (see Figure 56-8).

•• This deformity is associated with neurologic injury/nerve damage caused by

several underlying etiologies, including stroke, diabetes, cerebral palsy, and rheumatoid arthritis. •• Nerve damage or altered anatomy may cause weakening of intrinsic musculature, leading to imbalanced forces being placed on the toes. •• Incidence increases with age; most have no underlying cause Signs and Symptoms

•• Pain over the PIP joint with callus formation and possibly discoloration •• Discomfort with shoes Differential Diagnosis

•• Hammer toe, mallet toes Diagnostic Considerations

•• Physical examination reveals the deformity. •• Radiographs of the forefoot may be obtained to assess for arthritic changes and position of toes at each joint to determine degree of flexion.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• If clinical suspicion remains, consider other testing for associated/underlying conditions, such as diabetes, neurologic conditions, or rheumatoid arthritis.

Treatment

•• Conservative treatment with appropriate footwear with a wide toe box and consideration of a metatarsal bar or pad to relieve pressure

Expected Outcomes/Prognosis

•• Deformity will remain without operative intervention. •• Claw toes may increase risk of diabetic foot ulcers if left uncorrected, although these are very rare in children

When to Refer

•• Refer patients with persistent pain or shoe-fitting problems to an orthopaedic surgeon.

MALLET TOES Introduction/Etiology/Epidemiology

•• Mallet toes are a fixed or flexible flexion deformity at the DIP joint (see Figure 56-8).

•• It most commonly affects the second toe because it is the longest of the lesser toes. •• This deformity may be congenital, but it is usually acquired due to trauma, imbalance of the toe muscles, footwear that is too tight in the toe box, or wearing high heels.

Signs and Symptoms

•• Pain and callus/corn formation overlying the affected area •• Toe deformity Differential Diagnosis

•• Hammer toes •• Claw toes •• Curly toes Diagnostic Considerations

•• The MTP and PIP joints are normal, with fixed or flexible plantar flexion at the DIP joint.

•• If the examination findings are straightforward, imaging is not necessary. Treatment

•• Nonoperative treatment options include appropriately sized shoes with wide toe box, passive stretching, buddy taping, and corn pads.

•• Surgery (interphalangeal joint fusion) may be necessary for adolescents with

persistent pain or shoe-fitting problems. Surgery may include flexor digitorum longus tenotomy, flexor digitorum longus transfer, or DIP fusion.

Expected Outcomes/Prognosis

•• Pain usually resolves with nonoperative treatment, although the deformity may persist. •• Surgery is rarely necessary.



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When to Refer

•• Refer patients with persistent pain or shoe-fitting problems to an orthopaedic surgeon. Prevention

•• Ensure children wear appropriately sized footwear. •• Monitor children’s shoe size frequently during periods of rapid growth.

Bibliography—Part 13 Berg EE. A reappraisal of metatarsus adductus and skewfoot. J Bone Joint Surg Am. 1986;68(8):1185–1196 Bertsch C, Unger H, Winkelmann W, Rosenbaum D. Evaluation of early walking patterns from plantar pressure distribution measurements. First year results of 42 children. Gait Posture. 2004;19(3):235–242 Betz RR, Kollmer CE, Clancy M, Steel HH. Relationship of congenital hip and foot deformities: a national Shriner’s hospital survey. Paper presented at the annual meeting of the Pediatric Orthopaedic Society of North America; May 6–9, 1990; San Francisco, CA Bleck EE. Metatarsus adductus: classification and relationship to outcomes of treatment. J Pediatr Orthop. 1983;3(1):2–9 Bresnahan PJ, Juanto MA. Pediatric flatfeet–a disease entity that demands greater attention and treatment. Front Pediatr. 2020;8:19 Carr JB II, Yang S, Lather LA. Pediatric pes planus: a state-of-the-art review. Pediatrics. 2016;137(3):e20151230 Cavus foot deformity. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1047–1050 Chiou D, Stupay KL, Waryasz G. Turf toe review. Foot Ankle Spec. 2020;13(2):161–168 Clubfoot. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1055–1058 Coleman SS. The cavus foot. In: Coleman SS, ed. Complex Foot Deformities in Children. Philadelphia, PA: Lea & Febiger; 1983:147–165 Congenital deformities of the lower extremity. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1066–1070 Coughlin MJ. Lesser toe abnormalities. Instr Course Lect. 2003;52:421–444 Doty JF, Coughlin MJ. Metatarsophalangeal joint instability of the lesser toes. J Foot Ankle Surg. 2014;53(4):440–445 Farsetti P, Weinstein SL, Ponseti IV. The long-term functional and radiographic outcomes of untreated and non-operatively treated metatarsus adductus. J Bone Joint Surg Am. 1994;76(2):257–265 Fernández CS, Wagner E, Ortiz C. Lesser toes proximal interphalangeal joint fusion in rigid claw toes. Foot Ankle Clin. 2012;17(3):473–480 Ford SE, Scannell BP. Pediatric flatfoot: pearls and pitfalls. Foot Ankle Clin. 2017;22(3):643–656 Friedreich ataxia; FRDA. OMIM: Online Mendelian Inheritance in Man website. https://www. omim.org/clinicalSynopsis/229300 Updated June 10, 2011. Accessed November 18, 2020 Geist ES. The accessory scaphoid bone. J Bone Joint Surg Am. 1925;7(3):570–574

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Gillespie H. Osteochondroses and apophyseal injuries of the foot in the young athlete. Curr Sports Med Rep. 2010;9(5):265–268 Grogan DP, Gasser SI, Ogden JA. The painful accessory navicular: a clinical and histopathological study. Foot Ankle. 1989;10(3):164–169 Harris RI, Beath T. Etiology of peroneal spastic flat foot. J Bone Joint Surg Br. 1948;30B(4):624–634 Harris RI, Beath T. Hypermobile flat-foot with short tendo achillis. J Bone Joint Surg Am. 1948;30A(1):116–140 Jacobs JE. Metatarsus varus and hip dysplasia. Clin Orthop. 1960;16:203–213 Kasser JR. The foot. In: Raymond T, Morrissy SLW, eds. Lovell & Winter’s Pediatric Orthopaedics. 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:1257–1328 Kumar SJ, MacEwen GD. The incidence of hip dysplasia with metatarsus adductus. Clin Orthop Relat Res. 1982;(164):234–235 Lau J, Santone D. Forefoot sports injuries. In: Valderrabano V, Easley M, eds. Foot and Ankle Sports Orthopaedics. Basel, Switzerland: Springer International Publishing. 2016;371–375 Laurent G, Valentini F, Loiseau K, Hennebelle D, Robain G. Claw toes in hemiplegic patients after stroke. Ann Phys Rehabil Med. 2010;53(2):77–85 Leonard MA. The inheritance of tarsal coalition and its relationship to spastic flat foot. J Bone Joint Surg Br. 1974;56B(3):520–526 Lysack JT, Fenton PV. Variations in calcaneonavicular morphology demonstrated with radiography. Radiology. 2004;230(2):493–497 Metatarsus adductus. In: Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1159–1162 Nigg BM, Baltich J, Hoerzer S, Enders H. Running shoes and running injuries: mythbusting and a proposal for two new paradigms: ‘preferred movement path’ and ‘comfort filter’. Br J Sports Med. 2015;49(20):1290–1294 Reimers J, Pedersen B, Brodersen A. Foot deformity and the length of the triceps surae in Danish children between 3 and 17 years old. J Pediatr Orthop B. 1995;4(1):71–73 Schwend RM, Drennan JC. Cavus foot deformity in children. J Am Acad Orthop Surg. 2003;11(3):201–211 Smith TWD, Kreibich DN. Freiberg’s disease. In: Hetherington VJ, ed. Hallux Valgus and Forefoot Surgery. New York, NY: Churchill Livingstone; 1994:453–457 Smith WG, Seki J, Smith RW. Prospective study of a noninvasive treatment for two common congenital toe abnormalities (curly/varus/underlapping toes and overlapping toes). Paediatr Child Health. 2007;12(9):755–759 Staheli LT, Chew DE, Corbett M. The longitudinal arch. A survey of eight hundred and eighty-two feet in normal children and adults. J Bone Joint Surg Am. 1987;69(3):426–428 Sullivan JA. Ligament injuries of the foot/ankle in the pediatric athlete. In: DeLee JC, Drez D Jr, Miller MD, eds. DeLee and Drez’s Orthopaedic Sports Medicine: Principles and Practice. 2nd ed. Philadelphia, PA: WB Saunders; 2003:2376–2391 Thompson GH, Simons GW. Congenital talipes equinovarus (clubfeet) and metatarsus adductus. In: Drennan JC, ed. The Child’s Foot and Ankle. Philadelphia, PA: Lippincott Williams & Wilkins; 1992:123–127 Tsirikos AI, Riddle EC, Kruse R. Bilateral Köhler’s disease in identical twins. Clin Orthop Relat Res. 2003;409:195–198



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Volpon JB. Footprint analysis during the growth period. J Pediatr Orthop. 1994;14(1):83–85 Wenger DR. Metatarsus adductus and calcaneal valgus. In: Wenger DR, Rang M, eds. The Art and Practice of Children’s Orthopaedics. Philadelphia, PA: Lippincott Williams & Wilkins; 1993:109–115 Wenger DR, Mauldin D, Speck G, Morgan D, Lieber RL. Corrective shoes and inserts as treatment for flexible flatfoot in infants and children. J Bone Joint Surg Am. 1989;71(6):800–810 Wheeless CR III. Calcaneovalgus foot. Wheeless’ Textbook of Orthopaedics. http://www.wheelessonline. com/ortho/calcaneovalgus_foot. Accessed November 18, 2020 Williams GA, Cowell HR. Köhler’s disease of the tarsal navicular. Clin Orthop Relat Res. 1981;(158):53–58

Part 14: Benign and Malignant Musculoskeletal Tumors TOPICS COVERED 57. Evaluation of Benign and Malignant Musculoskeletal Tumors....... 549 58. Common Benign Tumors......................................................... 555 Osteoid Osteoma Osteoblastoma Exostosis (Osteochondroma) Enchondroma Chondroblastoma Non-ossifying Fibroma Fibrous Dysplasia Aggressive Fibromatosis Osteofibrous Dysplasia Unicameral Bone Cyst (Simple Bone Cyst) Aneurysmal Bone Cyst Langerhans Cell Histiocytosis Popliteal (Baker) Cyst 59. Malignant Tumors................................................................... 577 Leukemia Neuroblastoma Osteosarcoma Ewing Sarcoma Rhabdomyosarcoma Synovial Cell Sarcoma



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CHAPTER 57

Evaluation of Benign and Malignant Musculoskeletal Tumors Introduction

•• Table 57-1 contains a list of benign and malignant musculoskeletal tumors. Table 57-1. Benign and Malignant Musculoskeletal Tumors Tumor

Bones Commonly Affected

Common Radiographic Anatomic Location Appearance

Long bones

Metaphyseal

Benign Non-ossifying fibroma

Eccentric location Radiolucent Well circumscribed Sclerotic borders

Fibrous dysplasia

Any

Any

Intramedullary Ground-glass Expansile

Osteofibrous dysplasia

Tibia or fibula

Diaphyseal

Intracortical Ground-glass Expansile

Aneurysmal bone cyst

Long bones

Metaphyseal

Eccentric location Expansile Cortical thinning

Enchondroma

Phalanges

Metaphyseal (initially)

Eccentric location

Humerus

Diaphyseal (with continued growth)

Stippled calcification

Distal femur

Expansile Cortical thinning

549

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Table 57-1. Benign and Malignant Musculoskeletal Tumors, continued Tumor Langerhans cell histiocytosis

Bones Commonly Affected

Common Radiographic Anatomic Location Appearance

Vertebral body

Diaphyseal

Eccentric location

Skull

Metaphyseal

Vertebra plana

Long bones

Lytic, punched-out lesions Well circumscribed lytic lesion

Chondroblastoma

Long bones

Epiphyseal

Eccentric location Radiolucent Central calcifications

Simple bone cyst (unicameral bone cyst)

Long bones

Metaphyseal initially, can progress to involve epiphysis

Intramedullary Radiolucent Thin sclerotic border Well circumscribed Fallen leaf sign

Osteoid osteoma

Long bones

Metaphyseal

Femur

Diaphyseal

Tibia

Cortical, intramedullary, or periosteal Radiolucent nidus

Spine

Dense sclerotic border if intracortical Differentiate from osteoblastoma by smaller size

Osteoblastoma

Spine (50%)

Diaphyseal

Long bones

Metaphyseal

Cortical or intramedullary Mixed: radiodense and radiolucent areas

Osteochondroma

Long bones

Metaphyseal

Cortical Pedunculated or sessile mass Continuity with medullary canal Differentiate from osteoid osteoma by larger size



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Table 57–1. Benign and Malignant Musculoskeletal Tumors, continued Tumor

Bones Commonly Affected

Common Radiographic Anatomic Location Appearance

Central axis

Diaphyseal

Malignant Ewing sarcoma

Long bones

Periosteal reaction Onion skinning Lucent areas Indistinct borders Soft tissue mass

Osteosarcoma

Central axis Long bones

Metaphyseal

Cortical Sunburst Indistinct borders Codman triangle Periosteal reaction

History

•• The most common presenting issue is pain. •• Ask the patient to identify the site of pain precisely. •• Note the character of the pain (eg, achy, dull, intermittent, constant, radicular) and if the pain is worse at night or awakens the child from sleep.

•• Note how long the pain has been present and whether the pain is getting better, getting worse, or staying the same.

•• Ask about interventions that have been used to relieve pain (eg, rest, nonsteroidal anti-inflammatory drugs, ice) and if the measures were helpful.

•• Review the systems—history of fevers, malaise or night sweats, weight loss,

poor appetite, abdominal pain, vomiting or diarrhea, and other joint pain or swelling.

Physical Examination

•• Perform a general physical examination and detailed musculoskeletal examination of the affected region.

•• Evaluate for muscle atrophy, which suggests the pain has been present for an extended period.

•• If a mass is found, note the size, shape, location, consistency, mobility, tenderness, temperature, and character of the overlying skin. Transilluminate if possible; cysts transmit light better than the surrounding tissue. •• Perform neurologic, skin, abdominal, and lymphatic system examinations. •• Box 57-1 lists characteristics of malignant tumors.

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Box 57-1. Characteristics of Malignant Tumors While it is not always possible to determine whether a lesion is benign or malignant based solely on history and physical examination, malignancy is more likely when the following characteristics are present: • Systemic symptoms (eg, fever, malaise) • Pain that is unrelated to physical activity • Pain that is constant or progressive • Deep, firm, non-movable, tender mass • Adjacent lymphadenopathy

Radiographs

•• Radiography is the initial diagnostic test for patients with suspected musculoskeletal injury or neoplasm.

•• Obtain anteroposterior and lateral views of the affected extremity or joint. •• When interpreting the radiographs, note the location, size, and character of the lesion and the response of the adjacent bone (Figures 57-1 and 57-2). ——Determine whether the lesion is in the spine, a long bone, or a flat bone. ——Note whether it is in the metaphysis, diaphysis, or epiphysis.

Figure 57-1. Anteroposterior radiograph of the knee shows a central radiodense lesion with lucent areas, indistinct borders, periosteal reaction, and bone destruction in diaphysis and metaphysis of distal femur.



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Figure 57-2. Radiograph (mortise view) of the ankle shows a well-circumscribed, cortical, eccentric, radiolucent lesion with sclerotic borders in lateral, distal tibial metaphysis.

——Establish whether it is in the medullary canal, in the cortex, or on the surface of the bone.

——Note whether it is centrally or eccentrically located. ——Note whether it appears radiolucent or radiodense. „„If

the lesion is radiolucent, note areas of increased density and calcifications within the lesion or if it is completely radiolucent. ——Note if the lesion has well-circumscribed, sclerotic borders, or if the borders are indistinct from the surrounding bone. ——Note if the lesion is causing cortical destruction or erosions in the bone. ——Note the bone response to the lesion (eg, periosteal reaction). •• Benign lesions are well defined with sclerotic margins. •• Malignant lesions have less distinct borders and cause cortical destruction, erosions, and periosteal reaction. •• Patient age and lesion location can suggest a preliminary differential diagnosis. ——Benign spine tumors in children are usually noted in the posterior elements and include aneurysmal bone cyst, osteoid osteoma, and osteoblastoma.

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——Malignant spine tumors are usually noted in the vertebral bodies, including

Ewing sarcoma and osteosarcoma (rare), both of which can cause vertebra plana (flattening of the vertebral body). An exception is Langerhans cell histiocytosis, a benign tumor that can occur in the vertebral body, also causing vertebra plana. ——Long bone lesions „„Diaphyseal: Ewing sarcoma, fibrous dysplasia, Langerhans cell histiocytosis, chondromyxoid fibroma „„Metaphyseal: Non-ossifying fibroma, osteosarcoma, enchondroma, aneurysmal bone cyst, simple bone cyst „„Epiphyseal: Chondroblastoma, giant cell tumor of bone, simple bone cyst that has extended from metaphysis into epiphysis „„Note: Enchondromas are found in short tubular bones.

Advanced Imaging

•• Bone scans are useful for screening the entire skeleton for metastatic lesions. •• Computed tomography scan is used to define morphology of bone tumors and to guide needle biopsy.

•• Magnetic resonance imaging determines size and extent of soft tissue and bone lesions.

CHAPTER 58

Common Benign Tumors Osteoid Osteoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Osteoid osteoma (Figure 58-1) comprises about 11% of all benign bone tumors in children.

•• It has a boy-to-girl predominance of about 3:1. •• It is most commonly found in the femur and tibia, but it is also found elsewhere in the skeleton, including the posterior elements of the spine.

SIGNS AND SYMPTOMS

•• Constant pain that may be worse at night ——Nonsteroidal anti-inflammatory drugs (NSAIDs) or aspirin usually provide complete or nearly complete pain relief.

——Physical activity does not affect pain.

•• Physical examination may reveal a limp or disuse atrophy of the affected extremity. •• Joint examination findings, including range of motion, will be normal. •• Palpation may reveal the site of the lesion if it is located in an area without significant overlying soft tissue, such as the proximal tibia.

•• Scoliosis may be observed with spinous process lesions, but it occurs without the traditionally accompanying rotational deformity.

Figure 58-1. Osteoid osteoma of the femoral neck (circled) in a college runner 18 years of age. Patient presented with right-side groin pain.

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DIAGNOSTIC CONSIDERATIONS

•• Radiographs may be diagnostic, revealing an area of dense, reactive bone surrounding a radiolucent nidus (see Figure 58-1).

•• Computed tomography (CT), magnetic resonance imaging (MRI), or bone scan ——May be necessary to identify lesions in the proximal femur or posterior spine ——Useful for identifying early lesions because onset of pain may precede findings on plain radiographs

•• Biopsy may be performed to confirm the diagnosis. DIFFERENTIAL DIAGNOSIS

•• Biopsy will differentiate an osteoid osteoma from infection and a malignant bone tumor. Also, patients with an osteoid osteoma are unlikely to have fever, which is common in patients with Brodie abscess and osteomyelitis. •• Histologically, an osteoblastoma appears the same as an osteoid osteoma; differentiation is based on the size of the lesion, with an osteoid osteoma being less than 2 cm. TREATMENT

•• The preferred treatment is symptomatic care with NSAIDs. •• Radiofrequency ablation (RFA) or en block resection is considered for cases not responsive to symptomatic care. ——If RFA is not safe because the lesion is adjacent to neurologic structures, percutaneous coring or drilling is an option. •• Biopsy is performed to confirm the diagnosis prior to RFA or resection. EXPECTED OUTCOMES/PROGNOSIS

•• Spontaneous resolution of an osteoid osteoma lesion may occur 30 to 40 months after onset of symptoms.

•• After RFA, the child can resume physical activity as tolerated, without restriction. •• Successful treatment of spinal osteoid osteoma lesions that cause scoliosis can lead to resolution of scoliosis.

WHEN TO REFER

•• Refer to a pediatric orthopaedic surgeon for treatment once the lesion is identified. RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of osteoid osteoma (https://orthoinfo.aaos.org/en/diseases--conditions/osteoid-osteoma)

Osteoblastoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Osteoblastoma is a rare benign bone tumor histologically identical to osteoid osteoma. •• It comprises 1% of primary bone tumors and 3.5% of benign bone tumors.



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•• It has a boy-to-girl predominance of 2 to 3:1. •• Most patients present between 10 and 20 years of age. SIGNS AND SYMPTOMS

•• Pain is the primary symptom. ——NSAIDs and aspirin therapy may provide pain relief, but the relief may not be as dramatic as that of an osteoid osteoma.

•• Soft tissue swelling may be present. •• Occasionally, patients may notice a mass. •• Lesions in extremities may cause a limp or disuse atrophy. •• About 50% of osteoblastoma lesions are located in the spine and may cause a

decreased range of motion, painful scoliosis, or neurologic signs and symptoms

DIFFERENTIAL DIAGNOSIS

•• An osteoblastoma is histologically identical to an osteoid osteoma, but an

osteoblastoma is larger (nidus size > 2 cm) and pain from it is not as readily relieved with NSAIDs. •• An aneurysmal bone cyst (ABC) (Figure 58-2) is clinically and radiographically similar to an osteoblastoma, although ABC usually expands the bone more than

Figure 58-2. Aneurysmal bone cyst defined by a radiograph (A) and a magnetic resonance imaging scan (B).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

osteoblastoma; biopsy will differentiate the two conditions. Also, secondary ABCs can be seen in 10% to 40% of osteoblastomas. •• On radiographs an osteosarcoma is more invasive than an osteoblastoma, causing cortical destruction and significant periosteal reaction; biopsy rules out malignancy. DIAGNOSTIC CONSIDERATIONS

•• Results of laboratory studies are usually normal. •• Findings on plain radiographs are often nonspecific. ——The lesion is usually diaphyseal or metaphyseal and may be cortical or intramedullary.

——Cortical lesions expand the cortex and have a thin rim of reactive bone. ——The lesion has mixed qualities with radiodense and radiolucent areas. ——Typical findings in the spine include enlargement of the spinous process, decreased pedicle definition, and irregular cortex.

•• Bone scan or CT scan may be necessary to locate and further evaluate spinous process lesions, which may be difficult to identify on radiographs.

•• CT scan may also help to differentiate from malignant lesions, which is sometimes difficult with radiographs.

TREATMENT

•• Some smaller lesions may be followed with serial radiographs. •• Lesions are often locally aggressive and require wide surgical resection to prevent damage to surrounding structures. More recently, RFA has been shown to be a safe and effective treatment modality for spinal osteoblastoma.

EXPECTED OUTCOMES/PROGNOSIS

•• As with an osteoid osteoma, if spine lesions are identified and treated within

15 months after onset of symptoms, associated scoliosis will resolve or decrease significantly. •• Rarely, sarcomatous degeneration of osteoblastoma lesions has been reported. WHEN TO REFER

•• Refer to a pediatric orthopaedic oncologist once the lesion is identified. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of osteoblastoma (https://emedicine.medscape.com/ article/1257927-overview)

Exostosis (Osteochondroma) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Exostosis, or osteochondroma, is a common benign lesion, accounting for 10% of all tumors and 30% of all benign bone tumors (Figure 58-3).



Chapter 58: Common Benign Tumors

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Figure 58-3. Sessile exostosis of the distal femur in a boy 10 years of age. This boy presented with a painless mass.

SIGNS AND SYMPTOMS

•• Most patients present with a painless mass. •• Some patients may report pain because of repeated trauma to the exostosis or

due to bursitis that can develop from repetitive friction of the tense overlying soft tissues. •• Some patients present with a pathologic fracture of the osteochondroma. •• In asymptomatic patients, lesions are identified on radiographs obtained for other reasons. •• Large lesions may limit joint range of motion, cause neural or vascular compression, or irritate overlying muscle. •• Physical examination reveals a non-tender, fixed mass. •• Range of motion of the adjacent joint may be limited. •• If nerve compression is present, isolated peripheral neurologic signs will be noted. DIFFERENTIAL DIAGNOSIS

•• Multiple hereditary exostoses (MHE) is an autosomal-dominant syndrome in which patients have multiple exostoses. ——Lesions may cause growth disturbance, loss of joint motion, and joint deformity. ——Short stature and deformity of the radius and ulna are common.

DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can usually be established with radiographs. ——The exostosis may be pedunculated or sessile and is in continuity with the medullary canal of the bone (see Figure 58-3).

•• Advanced imaging is usually unnecessary, but if the diagnosis is unclear on a plain radiograph, an MRI or CT scan can help establish the diagnosis.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

TREATMENT

•• Surgical intervention in the pediatric age group is indicated if the lesion restricts joint mobility, irritates the overlying muscle, or causes pain due to nerve compression, fracture, or repeated trauma. •• Lesions should be radiographically evaluated annually. EXPECTED OUTCOMES/PROGNOSIS

•• Exostoses grow until skeletal maturity. •• Malignant degeneration is rare but should be considered if there has been rapid growth of the exostosis after skeletal maturity and significant increase in pain.

•• Pathologic fractures may occur during physical activity. •• Secondary chondrosarcoma is also rare, but patients with MHE are at greater risk than those with a solitary exostosis.

WHEN TO REFER

•• Refer to a pediatric orthopaedic surgeon once the lesion is identified. RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of osteochondroma (https://orthoinfo.aaos.org/en/diseases--conditions/osteochondroma)

Enchondroma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Enchondroma is a centrally located, metaphyseal, radiolucent, expansile lesion

causing thinning of the cortex; such tumors comprise 11% of benign bone tumors (Figure 58-4). Figure 58-4. Enchondroma of the fifth metacarpal in a boy 8 years of age. It is a centrally located, metaphyseal, lucent, expansile lesion causing thinning of the cortex. This boy presented with a painless mass in the finger.



Chapter 58: Common Benign Tumors

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•• This tumor is most commonly found in the phalanges of the hands and feet; other common locations include the proximal humerus and distal femur.

SIGNS AND SYMPTOMS

•• May be asymptomatic or may present with pain or a pathologic fracture •• Physical examination may reveal tenderness at the site of the lesion and the affected digit, or the affected extremity may appear swollen.

DIFFERENTIAL DIAGNOSIS

•• Chondrosarcoma appears more aggressive on radiograph with cortical

destruction; biopsy may be needed to definitively distinguish it from enchondroma. •• Fibrous dysplasia is diaphyseal rather than metaphyseal and, in long bones, has a more ground-glass appearance, while an enchondroma has a more lytic appearance. •• Multiple enchondroma, also called Ollier disease, is less common than a solitary enchondroma and is usually diagnosed in children younger than 10 years. ——Lesions may be bilateral but are usually worse on one side. ——Angular and shortening deformities of the extremities are common and may require surgical intervention. DIAGNOSTIC CONSIDERATIONS

•• Plain radiographs are obtained first and are often diagnostic. ——Enchondromas are usually found in the metaphysis within the medullary canal, but epiphyseal lesions have been reported.

——Lesions are lucent and expansile, and they may cause thinning of the cortex. ——Periosteal reaction is not usually present.

•• MRI may be performed to confirm the diagnosis. ——Lesions are well circumscribed and have a high signal intensity on T2-weighted images and an intermediate signal on T1-weighted images.

TREATMENT

•• Asymptomatic enchondromas do not require treatment. •• Symptomatic enchondromas and those associated with a fracture should be treated with curettage and bone grafting.

EXPECTED OUTCOMES/PROGNOSIS

•• Unlike with solitary enchondroma, patients with multiple enchondromas are at

risk for a secondary chondrosarcoma over time, particularly in the shoulder and pelvis.

WHEN TO REFER

•• Refer symptomatic enchondromas and those associated with a fracture to a pediatric orthopaedic surgeon.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of enchondroma (https:// orthoinfo.aaos.org/en/diseases--conditions/enchondroma)

Chondroblastoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• An uncommon benign bone tumor, chondroblastoma comprises 1% to 2% of all bone tumors (Figure 58-5).

•• It most commonly affects children and adolescents with open physes between 10 and 19 years of age.

•• The humerus, tibia, and femur are common sites of involvement. SIGNS AND SYMPTOMS

•• Presents with pain, tenderness, and limited range of motion of an adjacent joint. •• Joint effusion may be present, particularly with lesions in the distal femur or proximal tibia.

Figure 58-5. (A) Anteroposterior “tunnel” radiograph of the knee shows chondroblastoma of the proximal tibia (circled) in an adolescent 16 years of age. It is an epiphyseal lesion that is lucent, well circumscribed, and centrally located. This adolescent presented with knee pain. (B) Same well-circumscribed lesion enhanced on a T2-weighted magnetic resonance image.



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DIFFERENTIAL DIAGNOSIS

•• Chronic synovitis •• Osteochondritis dissecans •• Osteomyelitis DIAGNOSTIC CONSIDERATIONS

•• Plain radiographs reveal a radiolucent lesion with central calcifications

(see Figure 58-5). ——Reactive bone surrounds the lesion; periosteal reaction may be present. ——Lesions are usually epiphyseal but may cross the physis into the metaphysis. •• Chest CT should be performed because a chondroblastoma may rarely ( 50% of the diameter of the bone) are at increased risk for a pathologic fracture.

WHEN TO REFER

•• Refer lesions greater than 50% of the diameter of the bone to a pediatric orthopaedic surgeon.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of non-ossifying fibroma (https://orthoinfo.aaos.org/en/diseases--conditions/nonossifying-fibroma)

Fibrous Dysplasia INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Fibrous dysplasia is common, representing 5% to 7% of benign tumors (Figure 58-7).

•• Fibrotic lesions replace and weaken the bone. •• There are 2 types of fibrous dysplasia. ——Monostotic (single lesion) is more common. ——Polyostotic (multiple lesions) is more severe. SIGNS AND SYMPTOMS

•• Monostotic ——Most are asymptomatic, presenting as an incidental finding on radiographs obtained for other reasons.

——Large lesions may present with pain and swelling or a pathologic fracture, which is the presenting feature in about 30% to 50% of cases.

——Angular deformity and leg-length discrepancy are less common presenting symptoms.

•• Polyostotic ——Much more likely to present with limb-length discrepancy or angular deformity

„„Shepherd

crook deformity (varus deformity of the femoral neck) is the most common. ——Scoliosis is occasionally found. ——Rarely, polyostotic fibrous dysplasia is associated with „„McCune-Albright syndrome, which is a genetic disease characterized by the triad of polyostotic fibrous dysplasia, café au lait spots, and precocious puberty

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Figure 58-7. Fibrous dysplasia. A, Lateral view of the lower leg of a young woman, obtained after an injury. The patient reported no preinjury pain. Note the large, multiloculated geographic lytic lesion located centrally in the mid-diaphysis of the tibia (black arrows). The surrounding cortex is chronically thinned and slightly dilated, with a sharply defined sclerotic narrow zone of transition (white arrow) typical of a benign tumor. The “smoky” appearance of the upper portion of the lesion (arrowhead) is caused by fibro-osseous tissue typically found in the lytic core of fibrous dysplastic lesions. This feature is not seen in solitary bone cysts, which appear darker because of the lack of such tissue. B, Anteroposterior view showing fibrous dysplasia involving the entire radius of a young woman who reported no pain. Note the smoky area of fibro-osseous matrix calcification surrounded by a thinly dilated cortex (arrow). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:117. Reproduced with permission.

„„Mazabraud

syndrome, which is characterized by fibrous dysplasias and single or multiple intramuscular myxomas

DIFFERENTIAL DIAGNOSIS

•• Non-ossifying fibroma is smaller and cortical (rather than intramedullary), distinguishing it from fibrous dysplasia.



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•• Low-grade osteosarcoma: comparatively, fibrous dysplasia lesions appear less aggressive with no reactive shell or permeative borders.

•• Unicameral bone cysts (UBCs): not expansile, may have fallen leaf sign •• ABC: can look similar on radiographs, MRI can differentiate. DIAGNOSTIC CONSIDERATIONS

•• Radiographs (see Figure 58–7) ——Lesions are diaphyseal and intramedullary with a ground-glass appearance. ——The diaphysis appears enlarged, and the cortex is thinned. ——The border between the medullary canal and cortex may be less distinct. ——Over time, the lesion may take on a cystic or radiodense appearance. ——In polyostotic type, the lesions are usually unilateral but may be bilateral. •• Bone scan should be performed to evaluate for polyostotic dysplasia. •• CT and MRI can be used to further evaluate lesions for diagnosis and

surgical planning. On MRI, the lesions are hypodense on T1- and T2-weighted images.

TREATMENT

•• Asymptomatic lesions should be evaluated with radiographs to monitor their growth every 1 to 2 years until skeletal maturity.

•• If the lesion is large, painful, or located in the femoral neck, curettage with a bone graft may be necessary.

EXPECTED OUTCOMES/PROGNOSIS

•• Monostotic lesions enlarge during periods of skeletal growth and stabilize with skeletal maturity.

•• Patients with polyostotic fibrous dysplasia are more likely to experience

progressive deformity; lesions may continue to grow even after skeletal maturity.

•• Malignant transformation of fibrous dysplasia lesions is rare. WHEN TO REFER

•• Patients with polyostotic fibrous dysplasia should be referred to a pediatric orthopaedic surgeon and an endocrine specialist at the time of diagnosis.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of fibrous dysplasia (https://orthoinfo.aaos.org/en/diseases--conditions/fibrous-dysplasia)

Aggressive Fibromatosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Aggressive fibromatosis, or extra-abdominal desmoid, is a benign fibrous lesion. •• It is uncommon, comprising 3% of all soft tissue tumors, with an incidence of 2 to 4 per 1 million people per year.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

•• Extremity lesions are common in children. •• Lesions are also found in the abdominal wall, trunk, head, neck, and breast. •• This lesion is more common in girls. •• It is frequently found in patients with familial adenomatous polyposis (FAP) or Gardner syndrome, which are characterized by colorectal polyposis, epidermal cysts, and osteomata.

SIGNS AND SYMPTOMS

•• Painless swelling in an extremity •• Large lesions may present with loss of joint range of motion or neurologic

symptoms such as numbness, paresthesias, or radiating pain caused by nerve impingement. •• Physical examination may reveal a mildly tender, growing mass that is firm and tends to be deep to the surface. DIAGNOSTIC CONSIDERATIONS

•• Radiographs may help with diagnosis. ——A soft tissue mass may be noted and, rarely, may cause bony erosions. •• MRI is useful for defining the extent of the lesion and following its progression. ——The lesion may be hypointense or hyperintense compared with adjacent muscle. ——It tends to have a low signal on T1- and T2-weighted images. DIFFERENTIAL DIAGNOSIS

•• Aggressive fibromatosis can be distinguished from other soft tissue sarcomas on MRI by its lower signal intensity on T2-weighted images.

TREATMENT

•• Surgical excision is advisable because, while benign, these lesions may be locally invasive and destructive.

•• Complete excision is difficult because the lesion tends to be infiltrative. Thus, recurrence is not uncommon.

•• Wide resection is usually not indicated if it will lead to dysfunction. •• If pathology reveals positive margins, patients are followed for local recurrence. ——Irradiation has been used when margins are positive or for recurrent disease. ——Adjuvant chemotherapy may also be used. EXPECTED OUTCOMES/PROGNOSIS

•• Lesions may spontaneously regress or stop growing over time. WHEN TO REFER

•• At the time of diagnosis, refer to a pediatric orthopaedic surgeon for treatment and to a gastroenterologist to evaluate for FAP and Gardner syndrome.



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RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of extra-abdominal desmoid tumor (https://orthoinfo.aaos.org/en/diseases--conditions/extraabdominal-desmoid-tumors)

Osteofibrous Dysplasia INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Osteofibrous dysplasia is a rare, benign lesion found in the anterior tibia or fibula (may also occur in the mandible).

SIGNS AND SYMPTOMS

•• Typically presents as a painless deformity, usually with anterior bowing of the tibia

•• Some lesions may present with a pathologic fracture. DIFFERENTIAL DIAGNOSIS

•• Adamantinoma: patients are significantly older, presenting in their 20s, and the lesions tend to be more progressive and to appear more aggressive on radiographs.

DIAGNOSTIC CONSIDERATIONS

•• Radiographs are usually diagnostic. ——The lesion is found in the anterior cortex of the diaphysis of the tibia. ——There is bowing of the bone and intracortical osteolysis with an adjacent sclerotic band.

TREATMENT

•• Surgical intervention is needed in a minority of cases. •• Follow the lesion with radiographs every 6 months. •• Biopsy and resection are performed for progressive lesions. EXPECTED OUTCOMES/PROGNOSIS

•• Lesions may progress until puberty, or they may spontaneously regress. WHEN TO REFER

•• Refer all cases to a pediatric orthopaedic surgeon or orthopaedic oncologist. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of osteofibrous dysplasia (https://emedicine.medscape.com/ article/1256595-overview)

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Unicameral Bone Cyst (Simple Bone Cyst) INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Unicameral bone cysts are common, benign, fluid-filled bone lesions frequently found in children and adolescents (Figure 58-8).

•• The proximal humerus and femur are the most common sites and account for 90% of UBCs.

•• Boy-to-girl predominance is 2:1. SIGNS AND SYMPTOMS

•• Usually asymptomatic unless a pathologic fracture occurs •• Often identified as an incidental finding on a radiograph obtained for unrelated reasons

DIAGNOSTIC CONSIDERATIONS

•• Radiographs are diagnostic. Figure 58-8. Unicameral bone cyst (simple bone cyst) in a female swimmer 17 years of age. She presented with a pathologic fracture.



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——UBCs originate from the metaphysis and extend into the epiphysis. ——UBC borders are well circumscribed with a thin rim of bone. ——Some UBCs have fallen leaf sign, that is, fragment of bone at the bottom of the cyst cavity.

•• MRI may be obtained to establish the diagnosis but is rarely needed. DIFFERENTIAL DIAGNOSIS

•• ABCs are expansile on radiographs, whereas UBCs are not. TREATMENT

•• For large lesions or those in high-stress anatomic sites, which are at increased risk for a pathologic fracture, surgical intervention is appropriate. ——Treatment with intralesional injection of corticosteroids may be sufficient, but serial injections may be required. ——For lesions that do not respond to injection, curettage with a bone graft, bone substitute, or demineralized bone and/or internal fixation can be performed. •• While lesions often heal after a pathologic fracture, surgical intervention may be necessary for lesions associated with multiple pathologic fractures. EXPECTED OUTCOMES/PROGNOSIS

•• UBCs usually move away from the epiphysis with growth and resolve spontaneously.

•• Possible complications include persistence of the lesion and growth arrest. WHEN TO REFER

•• Refer UBCs to a pediatric orthopaedic surgeon for management. RESOURCES FOR PHYSICIANS AND FAMILIES

•• American Academy of Orthopaedic Surgeons definition of simple (unicameral) bone cyst (https://orthoinfo.aaos.org/en/diseases--conditions/unicameral-bonecysts)

Aneurysmal Bone Cyst INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Aneurysmal bone cyst is a relatively rare, blood-filled bone cyst in children. •• It comprises 1% of all bone tumors, and the annual incidence is 1.4 per 1 million people.

•• ABCs can occur in any bone but are more common in long bones, especially the distal femur, tibia, humerus, and fibula.

•• They are slightly more common in girls than in boys.

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SIGNS AND SYMPTOMS

•• Often asymptomatic; identified on radiographs obtained for other reasons •• Some patients may present with chronic, dull, achy pain and swelling. •• Rarely, patients present with a pathologic fracture. •• Physical examination findings are usually normal, unless a pathologic fracture has occurred.

•• In the case of spinal lesions, patients may present with scoliosis or neurologic symptoms secondary to cord or nerve root compression.

DIAGNOSTIC CONSIDERATIONS

•• Radiographic findings depend on the anatomic site of the lesion. ——In long bones, an ABC is metaphyseal or diaphyseal, eccentrically located,

and arising from the medullary canal. It expands the bone and thins the cortex. ——In the spine, an ABC arises in the posterior elements and may extend into the body of the vertebra or adjacent rib. •• CT and MRI can identify fluid levels and are often necessary to establish the diagnosis, especially for spinal lesions. DIFFERENTIAL DIAGNOSIS

•• ABCs are expansile on radiographs, whereas UBCs are not. •• An ABC is usually less aggressive than an osteosarcoma or Ewing sarcoma. •• An ABC may occur within or in association with other tumors. TREATMENT

•• Curettage and packing with a bone graft or polymethyl methacrylate, with or without adjuvant treatment (eg, cryotherapy or phenol)

•• For lesions not accessible to curettage, packing with demineralized bone and autogenous bone marrow may be used to induce healing of the lesion.

EXPECTED OUTCOMES/PROGNOSIS

•• Recurrence is common in younger patients. •• Compared to UBC, ABC more commonly leads to limb-length discrepancy. •• Proximal femoral lesions are at increased risk for pathologic fracture. WHEN TO REFER

•• Refer immediately to a pediatric orthopaedic surgeon for definitive evaluation and management.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of ABC (https://emedicine.medscape.com/article/1254784overview)



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Langerhans Cell Histiocytosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Langerhans cell histiocytosis (Figure 58–9) is also called “histiocytosis X” or “eosinophilic granuloma.”

•• It develops in children and adolescents between 5 and 15 years of age. •• It commonly presents as a painless mass in the skull, but it may also manifest in the long bones, spine, and pelvis.

•• Other organ systems may be involved, including skin, gastrointestinal system, lung, endocrine system, and central nervous system.

•• Severe forms of Langerhans cell histiocytosis have been identified. ——Letterer-Siwe disease refers to disseminated Langerhans cell histiocytosis and is associated with multiple lesions, wasting, and hepatosplenomegaly.

Figure 58-9. (A) Langerhans cell histiocytosis of the vertebral body causing vertebra plana (yellow arrow). (B) Langerhans cell histiocytosis of the proximal clavicle (black arrow) in a female swimmer 12 years of age. She presented with shoulder pain.

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——Langerhans cell histiocytosis with skull lesions, diabetes insipidus, and exophthalmos is called Hand-Schüller-Christian disease.

SIGNS AND SYMPTOMS

•• Presenting symptoms include pain at the site of the lesion and fever. •• Patients with long-bone lesions may present with a pathologic fracture. •• Patients with spine lesions may have neurologic symptoms such as radicular pain or gait abnormalities.

•• Physical examination reveals tenderness to palpation at the site of the lesion. •• Neurologic deficits, such as altered gait, may be observed with spine lesions. DIFFERENTIAL DIAGNOSIS

•• For long-bone lesions: osteomyelitis, Ewing sarcoma, and lymphoma •• For spine lesions: Ewing sarcoma, lymphoma, leukemia, ABC, and infection DIAGNOSTIC CONSIDERATIONS

•• Laboratory studies may show elevated erythrocyte sedimentation rate and C-reactive protein level.

•• Radiographic findings depend on the location of the lesion. ——In the spine, vertebra plana (ie, flattening of the vertebral body) (see Figure 58-9, A)

——In flat bones, punched out, lytic lesions will be seen (see Figure 58-9, B).

——MRI may be necessary to further evaluate the extent of the lesion.

•• Biopsy may be necessary for definitive diagnosis. •• A bone scan should be performed to evaluate for multiple skeletal lesions. TREATMENT

•• Because isolated lesions will usually resolve spontaneously, observation and splinting for comfort is often sufficient.

•• Surgery may be required for lesions causing persistent pain or disability. •• Intralesional steroid injection may be used for painful lesions not easily accessible surgically.

•• Pathologic fractures are treated with appropriate immobilization and may require a bone graft.

•• Some children may be treated with radiation or chemotherapy, especially those with spine lesion or multiple lesions.

•• Some children with spine lesions may require surgery for deformity. EXPECTED OUTCOMES/PROGNOSIS

•• Children with isolated skeletal lesions have a good prognosis because the lesions will usually resolve spontaneously over several months.



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WHEN TO REFER

•• Lesions in the spine causing neurologic signs should be referred to a neurosurgeon or an orthopaedic spine surgeon.

•• Lesions in the long bones or pelvis should be referred to an orthopaedic surgeon. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of Langerhans cell histiocytosis (https://emedicine.medscape. com/article/1100579-overview)

Popliteal (Baker) Cyst INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• A popliteal cyst or Baker cyst is a swelling of the bursa between the gastrocnemius and semimembranous tendons (the medial aspect of the popliteal fossa).

•• It is common in children between 4 and 12 years of age. •• This cyst is seen more frequently in boys than girls. •• Unlike in adults, popliteal cysts in children rarely communicate with the joint and are rarely associated with intra-articular pathology.

SIGNS AND SYMPTOMS

•• Painless swelling in the back of the knee •• Cyst is non-tender, smooth, and distensible •• Remainder of the knee examination is normal DIFFERENTIAL DIAGNOSIS

•• Solid tumors: lipomas, xanthomas, vascular tumors, fibrosarcomas DIAGNOSTIC CONSIDERATIONS

•• The diagnosis can be established by history and physical examination. •• Unlike a solid tumor, the popliteal cyst will transilluminate on physical examination. •• If there is any uncertainty, ultrasonography can distinguish a fluid-filled popliteal cyst from a solid tumor.

TREATMENT

•• Reassurance that the cyst will resolve spontaneously with time •• Aspiration is not warranted because of the high rate of recurrence. •• In children, surgical excision of popliteal cysts is rarely indicated. ——Excision may be considered for very large or painful cysts. ——Recurrence after excision is common. EXPECTED OUTCOMES/PROGNOSIS

•• The natural history is for spontaneous resolution, but this may take several months to several years.

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WHEN TO REFER

•• Children with painful cysts or large cysts that limit joint motion should be referred to a pediatric orthopaedic surgeon.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape explanation of Baker cyst imaging modalities (https://emedicine. medscape.com/article/387399-overview)

CHAPTER 59

Malignant Tumors Leukemia INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Leukemia comprises 25% to 30% of cancer in the pediatric age group. •• It is more common in white children than in Black children. SIGNS AND SYMPTOMS

•• Of children with leukemia, 25% will present with bone pain, usually in the extremities; a few may also report joint pain, swelling, or limp.

•• Musculoskeletal symptoms are less common than systemic symptoms, which include fatigue, easy bruising or bleeding, infection, and fever.

•• Physical examination may reveal diffuse lymphadenopathy, hepatosplenomegaly, and tenderness to palpation of the affected long bones of the extremities.

•• Bruises in multiple stages of healing may also be found. DIFFERENTIAL DIAGNOSIS

•• Laboratory studies and radiographs will differentiate bone pain caused by

leukemia from osteomyelitis, septic arthritis, transient synovitis, or primary bone tumor.

DIAGNOSTIC CONSIDERATIONS

•• In those with musculoskeletal symptoms, radiographic findings may include ——Osteopenia ——Periosteal reaction ——Metaphyseal bands ——Sclerosis with or without lytic areas •• Complete blood count will show bone marrow failure, usually with anemia and thrombocytopenia.

•• Leukemic cells may or may not be seen on a peripheral blood smear. •• Bone marrow biopsy provides definitive diagnosis. TREATMENT

•• Treatment involves chemotherapy. 577

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EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis is better for children with the following factors: ——Between 1 and 9 years of age at presentation (with B-cell acute lymphoblastic leukemia [ALL] only)

——White blood cell count less than 100,000 per microliter at presentation ——White race (unknown if this is a physiological or sociological factor) ——Female sex ——Pre–B-cell or early pre–B-cell ALL (vs T-cell and mature B-cell ALL) ——Only one chemotherapy cycle needed to achieve remission ——No spread to liver, spleen, spinal fluid, or testicles WHEN TO REFER

•• Refer immediately to a pediatric oncologist for definitive diagnosis and treatment.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of pediatric acute lymphoblastic leukemia (https://emedicine. medscape.com/article/990113-overview)

Neuroblastoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Neuroblastoma is a cancer of the peripheral sympathetic nervous system, accounting for 8% of cancers in children.

•• Most children are diagnosed before 5 years of age. SIGNS AND SYMPTOMS

•• Symptoms include abdominal pain and swelling. •• If metastatic disease is present, children may report bone pain, fever, weight loss, subcutaneous nodules, orbital proptosis, and periorbital ecchymoses.

•• Paraspinal lesions may cause back pain with radicular symptoms. DIFFERENTIAL DIAGNOSIS

•• Abdominal rhabdomyosarcoma •• Wilms tumor DIAGNOSTIC CONSIDERATIONS

•• Radiographs of the extremities (obtained for bone pain) are expected to show

normal findings in early stages, but later may show lytic bone lesions; an intraabdominal mass may be seen on radiographs or computed tomography (CT) scans. •• Bone scan will identify metastatic bone lesions. •• Biopsy is usually required for definitive diagnosis.



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TREATMENT

•• Surgical excision, chemotherapy, and possibly radiation therapy may be indicated. EXPECTED OUTCOMES/PROGNOSIS

•• Depends on age, stage, and certain biologic characteristics of the tumor ——Low-risk localized tumors for which complete excision is possible have a 90% cure rate.

——High-risk tumors carry a less than 50% survival rate. WHEN TO REFER

•• Refer immediately to a pediatric oncologist for definitive diagnosis and treatment. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of pediatric neuroblastoma (https://emedicine.medscape. com/article/988284-overview)

Osteosarcoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Osteosarcoma is the most common primary malignancy of bone in patients younger than 30 years.

•• It comprises 56% of all malignant bone tumors. •• Annual incidence is 4.8 per 1 million children •• Incidence is slightly higher in boys than in girls and in Black children than in white children

•• Children with a history of hereditary retinoblastoma, Li-Fraumeni syndrome, and Rothmund-Thomson syndrome are at greater risk for an osteosarcoma.

•• Osteosarcoma is found in the long bones of the upper and lower extremities and in the central axis (ie, the flat bones of the shoulder, chest, and pelvis and in the soft tissues). •• The distal femur is the most common site, followed by the proximal tibia and proximal humerus. SIGNS AND SYMPTOMS

•• Pain and mass are the most common presenting symptoms. ——Onset of pain is insidious but progressive. •• Can present in any bone, but the distal femur, proximal tibia, and proximal

humerus are the most common sites ——Symptoms are typically present for an average of 3 months before the diagnosis is made. ——Twenty percent report nighttime pain. ——Fifty-five percent report intermittent pain at rest. •• At the first visit, 40% have a palpable mass that is typically tender and firm. •• There may be limited range of motion of the adjacent joint.

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•• Swelling of the affected limb may be noted when a distinct mass is not palpable. •• Paresthesia related to peripheral nerve compression caused by the tumor is rare. •• If a pathologic fracture has occurred, the child may report sudden onset of pain and swelling.

DIFFERENTIAL DIAGNOSIS

•• Osteomyelitis •• Symptoms may resemble musculoskeletal injury early in the course of disease; maintain a high index of suspicion for an osteosarcoma in patients whose symptoms persist or worsen despite conservative therapy.

DIAGNOSTIC CONSIDERATIONS

•• Radiographs usually establish the diagnosis but do not always demonstrate the full involvement of the primary tumor. ——Osteosarcoma typically manifests as a metaphyseal lesion with poorly defined borders with lytic and blastic components (Figure 59-1). ——Periosteal reaction may have a sunburst appearance or a Codman triangle. •• Magnetic resonance imaging (MRI) will define the extent of the tumor and soft tissue involvement ——The entire affected bone should be included in the MRI scan to identify “skip metastases,” which can be present in up to 2% of cases. •• Chest radiography and lung CT are performed to rule out skeletal and pulmonary metastases. •• Bone scan can be used to identify bony metastases. •• Laboratory studies may demonstrate elevated alkaline phosphatase or lactate dehydrogenase (LDH) levels, but they are often normal. Figure 59-1. Osteosarcoma. Anteroposterior view of the proximal humerus of an adolescent boy showing a large, aggressive-appearing, osteoblastic, centrally located, metaphyseal lesion that has broken out circumferentially across a great distance under the periosteum.



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TREATMENT

•• Treatment includes adjuvant and neoadjuvant chemotherapy and surgical

resection of the primary tumor. ——Neoadjuvant chemotherapy reduces tumor size, allowing for easier excision and assessment of tumor response to chemotherapy. ——Limb-sparing procedures (surgical resection with wide margins) are possible for up to 80% of children.

EXPECTED OUTCOMES/PROGNOSIS

•• Patients with a localized osteosarcoma have a 3- to 5-year event-free survival rate of 60% to 70%.

•• A good response to neoadjuvant chemotherapy is a predictor for better overall survival.

•• Patients who have pulmonary metastases at the time of diagnosis do not fare as

well and have a 30% to 50% survival rate. Complete resection of lung metastases improves survival. •• Patients with skip metastases in the bone, or synchronous regional bone metastases, have a worse prognosis. •• Functional outcome depends on tumor location, size, and soft tissue involvement. ——For the proximal humerus, patients report 70% to 90% of normal function on the Musculoskeletal Tumor Society functional assessment tool. ——For the distal femur, functional scores of 77% of normal are reported. WHEN TO REFER

•• Refer immediately to an orthopaedic surgeon for biopsy and definitive surgery. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of pediatric osteosarcoma (https://emedicine.medscape.com/ article/988516-overview)

Ewing Sarcoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Ewing sarcoma is the most common bone tumor in children younger than 10 years and the second most common in adolescents.

•• It accounts for 34% of bone tumors in children. •• Annual incidence is 2.9 per 1 million children •• Boys are more commonly affected than girls. •• It is rare in Black children; white children are 6 times more likely than Black children to have Ewing sarcoma.

•• Central axis (ie, the flat bones of the shoulder, chest, and pelvis and the soft tissues) is the most common site of involvement.

•• The femur is the most common site of extremity involvement.

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SIGNS AND SYMPTOMS

•• Pain is the most common presenting symptom. ——Because onset of pain is insidious, patients typically delay seeking medical care for an average of 15 weeks, with a total delay of as long as 6 months from time of onset of symptoms to diagnosis. •• Soft tissue swelling or erythema may be reported. •• A palpable mass is noted in 34% of patients. •• Range of motion of the adjacent joints may be limited. •• Twenty percent of parents will report that the child has been limping. •• Thirty percent of patients have unexplained fevers. •• Spinal and pelvic lesions, which are more common in Ewing sarcoma than in osteosarcoma, are more difficult to palpate and to view on radiographs. DIFFERENTIAL DIAGNOSIS

•• Osteomyelitis and cellulitis ——Because of the erythema and history of fever, bone or soft tissue infection may be initially misdiagnosed.

•• Musculoskeletal injury ——As with osteosarcoma, symptoms may resemble musculoskeletal injury early

in the course of disease; maintain a high index of suspicion in patients whose symptoms persist or worsen despite conservative therapy.

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis can usually be established with plain radiographs in the case of long

bone lesion (Figure 59-2). ——Destructive metaphyseal or diaphyseal lesion with periosteal reaction and a soft tissue mass ——The periosteal reaction may have the typical onion skin appearance or form a Codman triangle. •• Pelvic lesions may be difficult to diagnose with plain radiographs alone; advanced imaging techniques may be needed. •• MRI may be used to determine the full extent of the primary lesion and associated soft tissue mass. •• Chest radiograph and CT scan are obtained to look for pulmonary metastases— the most common site for metastases. •• A bone scan is performed to identify skeletal metastases. •• Bone marrow biopsy may also be performed to determine if there are bone marrow metastases. •• Laboratory findings include an increased white blood cell count, erythrocyte sedimentation rate or LDH level, and anemia. ——Increased LDH level and anemia are associated with an unfavorable prognosis.



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Figure 59-2. Ewing sarcoma of fibula.

TREATMENT

•• Neoadjuvant and adjuvant chemotherapy followed by resection of the primary

tumor as indicated ——Neoadjuvant chemotherapy may shrink the tumor, allowing for safer excision and an assessment of tumor response to chemotherapy. •• If the primary tumor site is inaccessible to resection, as in spinal or pelvic lesions, radiation therapy may be performed instead of surgical resection. EXPECTED OUTCOMES/PROGNOSIS

•• Long-term survival rates range from 50% to 85%. •• Those with localized, long bone lesions have improved survival rates compared with those with axial (eg, pelvic-sacral) lesions.

•• Those with metastatic disease at the time of diagnosis have poor outcomes.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

WHEN TO REFER

•• Refer immediately to an orthopaedic oncologist. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of Ewing sarcoma (https://emedicine.medscape.com/ article/990378-overview)

Rhabdomyosarcoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Rhabdomyosarcoma is a soft tissue sarcoma of childhood that accounts for 3.5% of all childhood malignancies.

•• It represents 50% to 60% of all soft tissue sarcomas in children younger than 5 years and 23% to 25% in adolescents 15 to 19 years of age.

•• Annual incidence is 4.6 per 1 million children •• It is slightly more common in boys than in girls, with a ratio of 1.6:1. •• Children with a history of retinoblastoma, neurofibromatosis 1, and Li-Fraumeni syndrome are at increased risk.

•• Rhabdomyosarcoma can occur in any part of the body. Extremity lesions, which may present as an orthopaedic problem, make up about 20% of all rhabdomyosarcomas.

SIGNS AND SYMPTOMS

•• Rhabdomyosarcoma in the extremity manifests as a painless mass. •• There may be palpable lymphadenopathy in the affected limb because lymph node metastasis is common.

DIAGNOSTIC CONSIDERATIONS

•• Radiographs demonstrate a soft tissue mass. •• MRI or CT is performed to establish the extent of the primary lesion and should include the regional lymph nodes to look for metastases.

•• Biopsy confirms the diagnosis. •• Bone marrow biopsy may be performed for staging. •• Bone scan and chest CT scan will help in searching for distant metastases. DIFFERENTIAL DIAGNOSIS

•• Biopsy will differentiate rhabdomyosarcoma from other soft tissue sarcomas. •• Rhabdomyosarcoma is histologically similar to other round, blue cell tumors (eg, Ewing sarcoma, neuroblastoma, lymphoma); molecular testing can differentiate these.

TREATMENT

•• Surgical resection with wide margins, neoadjuvant and adjuvant chemotherapy



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•• Radiation may be used before resection in cases in which amputation might

otherwise be needed to obtain a wide margin on resection. Radiation may also be used after resection if the margins are not clear.

EXPECTED OUTCOMES/PROGNOSIS

•• Children who present with rhabdomyosarcoma of the extremities have a poor

prognosis compared with those who present with genitourinary, head, or neck tumors. •• Early diagnosis and immediate referral are imperative. ——Tumors greater than 5 cm in diameter at the time of diagnosis have a poor prognosis compared with smaller tumors. ——Young children have a higher 5-year survival rate (75%–81%) compared with adolescents and young adults (20%–40%). •• In patients with no gross residual tumor after resection, the 5-year survival rate is 90%. WHEN TO REFER

•• Refer immediately to an orthopaedic oncologist for biopsy. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of pediatric rhabdomyosarcoma surgery (https://emedicine. medscape.com/article/939156-overview)

Synovial Cell Sarcoma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Usually found in the extremities, synovial cell sarcoma accounts for about 10% of all soft tissue sarcomas in children.

•• Annual incidence is 0.4 per 1 million children •• It occurs more often in adolescents. SIGNS AND SYMPTOMS

•• Presents as a painful mass that is usually tender and firm. •• Onset of pain may precede development of a palpable mass. •• If metastasis has occurred, regional lymphadenopathy may be palpable. DIFFERENTIAL DIAGNOSIS

•• Biopsy and molecular testing will differentiate synovial cell sarcoma from

other soft tissue sarcomas and round, blue cell tumors (eg, Ewing sarcoma, neuroblastoma, lymphoma).

DIAGNOSTIC CONSIDERATIONS

•• Radiographs demonstrate a soft tissue mass and calcifications or ossification within the tumor.

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•• MRI, including of the regional lymph nodes, demonstrates the full extent of the lesions and can be used to identify regional lymph node metastasis.

•• Biopsy confirms the diagnosis. •• A chest CT scan is performed to evaluate for pulmonary metastasis. TREATMENT

•• Surgical resection •• Chemotherapy and radiation may also be used as part of the treatment. EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis depends on the size of the tumor at diagnosis. ——Eighty-five percent of patients with tumors that measure less than 5 cm in diameter and are completely resectable are expected to survive long-term.

——Fifty percent of patients with tumors that measure greater than 5 cm in diameter or are not resectable survive long-term.

•• If metastatic disease is present at the time of diagnosis, fewer than 10% survive 5 years.

WHEN TO REFER

•• Refer immediately to an orthopaedic oncologist. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Medscape definition of synovial sarcoma (https://emedicine.medscape.com/ article/1257131-overview)

Bibliography—Part 14 Enneking WF, Dunham W, Gebhardt MC, Malawar M, Pritchard DJ. A system for the functional evaluation of reconstructive procedures after surgical treatment of tumors of the musculoskeletal system. Clin Orthop Relat Res. 1993;(286):241–246 Garge S, Keshava SN, Moses V, et al. Radiofrequency ablation of osteoid osteoma in common and technically challenging locations in pediatric population. Indian J Med Paediatr Oncol. 2017;38(3):302–305 Herget GW, Mauer D, Krauß T, et al. Non-ossifying fibroma: natural history with an emphasis on a stage-related growth, fracture risk and the need for follow-up. BMC Musculoskelet Disord. 2016;17(1):147 Jackson TM, Bittman M, Granowetter L. Pediatric malignant bone tumors: a review and update on current challenges, and emerging drug targets. Curr Probl Pediatr Adolesc Health Care. 2016;46(7):213–228 Leavey PJ, Day MD, Booth T, Maale G. Skip metastasis in osteosarcoma. J Pediatr Hematol Oncol. 2003;25(10):806–808 Mascard E, Gomez-Brouchet A, Lambot K. Bone cysts: unicameral and aneurysmal bone cyst. Orthop Traumatol Surg Res. 2015;101(1 suppl):S119–S127



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Pacifici M. Hereditary multiple exostoses: new insights into pathogenesis, clinical complications, and potential treatments. Curr Osteoporos Rep. 2017;15(3):142–152 Thacker NH, Abla O. Pediatric Langerhans cell histiocytosis: state of the science and future directions. Clin Adv Hematol Oncol. 2019;17(2):122–131 Westacott D, Kannu P, Stimec J, Hopyan S, Howard A. Osteofibrous dysplasia of the tibia in children: outcome without resection. J Pediatr Orthop. 2019;39(8):e614–e621 Whittle SB, Smith V, Doherty E, Zhao S, McCarty S, Zage PE. Overview and recent advances in the treatment of neuroblastoma. Expert Rev Anticancer Ther. 2017;17(4):369–386 Xu H, Nugent D, Monforte HL, et al. Chondroblastoma of bone in the extremities: a multicenter retrospective study. J Bone Joint Surg Am. 2015;97(11):925–931

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CHAPTER 60

Limb-Length Discrepancy Introduction/Etiology/Epidemiology

•• Incidence of limb-length inequality, or anisomelia, is unknown. Studies estimate up to 35% of adults have discrepancies between 0.5 and 1.5 cm.

•• Underdiagnosis of small discrepancies is common. •• Misdiagnosis of discrepancies is also common. •• Discrepancies may be acquired, congenital, or idiopathic (very common) (Box 60-1).

•• Clinically significant leg-length discrepancies usually have an identifiable cause. •• The behavior of a limb-length discrepancy depends on its etiology. •• Acquired leg-length discrepancy is most commonly caused by trauma or

infection. ——Trauma to the growth plates: the potential resultant discrepancy depends on the affected bone, the amount of growth remaining, and the extent of injury to the growth plate. „„A Salter-Harris type II injury of the distal femoral physis has a reported rate of growth arrest as high as 37%. „„In contrast, a Salter-Harris type II injury of the distal radius may lead to growth arrest only 4% of the time. „„Different physes grow at different but consistent rates and close at different times. For example, a distal femoral physeal fracture in a boy with a skeletal age of 10 years with 6½ years of growth remaining could result in a 6-cm (0.9 cm/year × 6.5 years = 5.85 cm) discrepancy. The same fracture in the distal tibial physis would only result in a 2-cm (0.3 cm/year × 6.5 years = 1.95 cm) discrepancy that may not require any intervention. „„The diaphysis may be shortened by trauma or stimulated to overgrow after a fracture. „„The fractured femoral diaphysis in a child aged 2 to 10 years may cause overgrowth of the ipsilateral injured side by an average of 1 cm (range, 0.4–2.7 cm). Seventy-eight percent of the overgrowth occurs in the first 18 months after fracture. ——Osteomyelitis: bacterial enzymes and inflammation can injure the growth plate. •• Congenital leg-length discrepancies tend to worsen with time.

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Box 60-1. Etiology of Limb-Length Discrepancy Acquired • Trauma —— Acute bone loss —— Physeal fracture —— Post-traumatic overgrowth —— Burns —— Irradiation —— Iatrogenic (surgical) • Infection —— Osteomyelitis —— Septic arthritis —— Bacteremia —— Inflammation —— Juvenile idiopathic arthritis —— Hemophilia —— Pigmented villonodular synovitis • Neurologic —— Closed head injury —— Poliomyelitis —— Cerebral palsy —— Myelomeningocele • Vascular —— Congenital heart disease —— Thromboembolic

Congenital • • • • • • • • • • • •

• • • •

Developmental dysplasia of the hip Limb hypoplasia Proximal focal femoral deficiency Congenital short femur/tibia Hypoplastic femur Fibular hemimelia Tibial hemimelia Congenital pseudarthrosis of tibia Amniotic band syndrome Hemihypertrophy/atrophy Idiopathic Overgrowth syndromes —— Klippel-Trénauney syndrome —— Beckwith-Wiedemann syndrome —— Proteus syndrome —— Russell-Silver syndrome —— Neurofibromatosis-1 Skeletal dysplasia Ollier disease Fibrous dysplasia Multiple hereditary exostoses



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Signs and Symptoms

•• The most common presenting symptoms are abnormal asymmetry of gait, toe walking, scoliosis, hip pain, and back pain.

Differential Diagnosis

•• Leg-length discrepancies may be real or apparent (Figure 60-1). •• Muscle contractures or bony deformities around the hip may produce a pelvic tilt that causes an apparent leg-length discrepancy.

Diagnostic Considerations

•• History may reveal one or more of the following causes or risk factors: ——History of trauma, infection, burn, or other injury to the limbs ——History of clubfoot, bowing of the tibia, café au lait spots (a sign of

neurofibromatosis), and overgrowth/hemihypertrophy or “swelling” of the leg (Figure 60-2) ——Family history of skeletal dysplasia •• Physical examination should address the following: ——Lower extremity limb-length assessment can be simply and rapidly performed. ——Lower extremity limb lengths should be assessed at the annual well-child care visit and whenever a gait abnormality, hip pain, or spinal asymmetry is identified. ——Observe posture and gait from behind, focusing on the pelvis. „„Limp resulting from limb-length discrepancy is associated with a decreased stance time on the shorter side, decreased walking velocity, increased cadence, and decreased step length on the shorter side (may walk with ankle plantar flexion on short side and/or flexed knee posture on long side)

Figure 60-1. Real versus apparent leg-length discrepancy. A, normal; B, apparent; C, real. The apparent leg length is measured from the umbilicus to the tip of the medial malleolus. This will take into account pelvic obliquity due to muscle contracture around the pelvis. Real leg length may be measured from the anterior superior iliac spine to the tip of the medial malleolus.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 60-2. Anteroposterior (A) and lateral (B) radiographs showing anterolateral bowing of the tibia. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1077. Reproduced with permission.

Figure 60-3. Measuring leg length using a tape measure. Reproducible technique is needed to obtain accurate results. From Griffin LY, ed. Essentials of Musculoskeletal Care. 3rd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2005:798. Reproduced with permission.

——Lower extremity limb lengths may be measured on physical examination directly with a tape measure (Figure 60-3).

——Blocks of varying heights to level the pelvis may be used to measure leg length.

Minor spine asymmetry may be assessed with blocks under one foot to rule out leg-length discrepancy as a cause of spinal deformity. ——Some patients develop a nonstructural lumbar curvature because of the pelvic tilt that results from leg-length discrepancy. „„Cobb angle of the curvature on radiograph will be proportional to the amount of limb-length discrepancy. „„Nonstructural, non-scoliotic lumbar curves improve or normalize when the limb-length discrepancy is corrected with a block or shoe lift placed under one side (short side). •• Radiographic assessment ——A weight-bearing anteroposterior (AP) (full-length standing) radiograph of both lower extremities can show relative lengths and alignment of the



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femora and tibiae and also rule out developmental dysplasia of the hip by demonstrating concentric reduction of the femoral heads. „„When a ruler is added to assess leg length, this technique is called teleoradiography. „„The shortcoming of the standing legs radiograph is magnification at the upper and lower ends of the studied area because of an angled x-ray beam. ——Orthoradiography involves imaging the entire limb with 3 exposures onto the same long-film cassette (Figure 60-4). The smaller aperture of the x-ray beam source limits the angular magnification for each segment of the limb. ——Scanography (Figure 60-5) is the most popular technique used by orthopaedic specialists, but it does not image the entire limb and often omits the portion of the bone that may create the deformity. It is similar to orthoradiography, except that it is performed on a standard 14-inch × 17-inch cassette focusing on just the hip, knee, and ankle joints. Figure 60-4. Orthoradiography. A single image of both legs is created on a 3-foot cassette. A ruler is placed adjacent to both legs for measurement. A standing version of this technique demonstrates the alignment of the legs.

Figure 60-5. Scanography is performed on a standard 14-inch × 17-inch cassette. Three narrow aperture images are created with the source centered over the hip, knee, and ankle to minimize magnification. A radiographic ruler is placed next to each leg to permit measurement.

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——Computed tomography scanography has comparable accuracy to standard

scanography and can eliminate the error produced in standard radiographs when there are knee or hip flexion contractures. •• Assessment of skeletal maturity ——In the serial analysis of limb-length discrepancy and in planning for correction, accurate assessment of skeletal maturity is required. ——The Radiographic Atlas of Skeletal Development of the Hand and Wrist by Greulich and Pyle is still the primary source to determine skeletal maturity. „„The atlas includes radiographs of the hand and wrist of children from birth to 15 years of age for girls and to 17 years of age for boys. „„The patient’s left hand and wrist AP image is compared to the standard images to determine the closest match. „„The calculated standard deviation of skeletal age between standards may vary up to 11 months. •• Methods of calculation of limb-length discrepancy at skeletal maturity ——The White-Menelaus method uses chronological age and assumes skeletal maturation at age 14 years for girls and 16 years for boys. It assumes distal femur growth of 0.952 cm per year and proximal tibia growth of 0.635 cm per year. ——The Anderson-Green growth-remaining method uses skeletal age and calculates growth inhibition of the involved limb relative to the normal limb using the following formula: (growth normal – growth involved) / growth normal × 100 ——The Moseley straight-line graph uses skeletal age and is based on graphs from a generalized population to estimate appropriate timing of epiphysiodesis. ——The multiplier method uses chronological age and creates multiplier tables for boys and girls assuming a constant rate of growth inhibition of the short leg. It is the least accurate in prediction of limb-length discrepancy. •• Patients with hemihypertrophy and hemiatrophy need surveillance with abdominal ultrasonography to allow early detection and treatment of associated tumors. ——Patients with hemihypertrophy and Beckwith-Wiedemann syndrome have an aggregate 5.9% risk of developing visceral malignancy, specifically Wilms tumor and hepatoblastoma. ——Associated adrenal cell carcinoma and leiomyosarcoma may occur in up to 4% of patients with idiopathic hemihypertrophy and in 20% of patients with Beckwith-Wiedemann syndrome. ——There is debate about the ideal interval and duration of screening. The First International Conference on Molecular and Clinical Genetics of Childhood Renal Tumors suggests ultrasonography be performed every 3 months until 7 years of age, followed by physical examinations of the abdomen every 6 months until the completion of growth. Additionally, α-fetoprotein should be measured in the serum every 3 months from birth through age 4 years to screen for hepatoblastoma.

Treatment

•• Treatment of limb-length discrepancy depends on the degree of discrepancy, and treatment interventions range from observation to amputation and prosthetic fitting (Table 60-1).



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Table 60-1. Treatment of Limb-Length Discrepancy Discrepancy Treatment  20 cm

Limb reduction and early prosthetic fitting

•• It is generally accepted that a patient with a projected leg-length discrepancy of 2 cm or more at skeletal maturity will probably benefit from intervention.

•• A new report of gait alteration, back pain, knee pain, hip pain, or increasing

fatigue with activity should trigger a reassessment for a change in the discrepancy or a new functional effect of a small discrepancy. •• Shoe lifts ——In-shoe orthoses are limited to ⅜-inch (approximately 1 cm) or less. ——Shoe lifts larger than ⅜-inch must be incorporated into the sole of the shoe. ——Lifts bigger than 3 inches (> 8 cm) are associated with ankle sprains. ——A shoe lift may be used on a trial basis. If symptoms improve, the lift can become the permanent form of treatment, or a surgical means of correction can be sought. •• Limb shortening ——For discrepancies ranging from 2 to 5 cm, shortening of the longer limb may be performed through growth modulation/epiphysiodesis to achieve equalization of the limb lengths. ——Surgical options for shortening include epiphysiodesis (the surgical closure of an open growth plate through instrumentation, percutaneous physeal drilling, or an open Phemister technique) or acute surgical shortening with osteotomy and instrumentation, all under general anesthesia. •• Limb lengthening ——Surgical lengthening of the long bones is a difficult undertaking, although many advances have been made in the biology and technology of limb lengthening. ——An acute osteotomy of the bone is performed, and then gradual limb lengthening can be achieved through use of an external fixator (at any age) or with an intramedullary nail and magnetic lengthening (at skeletal maturity). ——Lengthening is indicated for projected discrepancies greater than 5 cm and less than 15 to 20 cm.

Expected Outcomes/Prognosis

•• Limb-length discrepancies affect people differently. There is evidence for

and against limb-length discrepancy as a cause of back pain, knee pain, and hip pain. •• There is no proven direct correlation between small limb-length discrepancies (< 2 cm) and low back pain.

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•• In persons who walk on their toes to compensate for a limb-length discrepancy, an Achilles tendon contracture may develop.

Prevention

•• Early recognition and treatment of infections may prevent a growth arrest. •• Early recognition of post-traumatic growth arrest will lead to optimal results.

When to Refer

•• Limb-length discrepancies that are nonprogressive can be observed. These include idiopathic limb-length discrepancies and those associated with temporarily slowed growth after trauma. •• For progressively worsening limb-length discrepancies that occur following trauma or infection or from an undetermined source, early referral to an orthopaedic surgeon is important once the discrepancy is recognized to permit timely treatment and correction. •• Congenital limb-length discrepancies should always be followed by an orthopaedic surgeon to evaluate for associated joint abnormalities.

Bibliography—Part 15 Abraham P. What is the risk of cancer in a child with hemihypertrophy? Arch Dis Child. 2005;90(12):1312–1313 Antoci V, Ono CM, Antoci V Jr, Raney EM. Bone lengthening in children: how to predict the complications rate and complexity? J Pediatr Orthop. 2006;26(5):634–640 Ballock RT, Wiesner GL, Myers MT, Thompson GH. Hemihypertrophy. Concepts and controversies. J Bone Joint Surg Am. 1997;79(11):1731–1738 Bhave A, Paley D, Herzenberg JE. Improvement in gait parameters after lengthening for the treatment of limb-length discrepancy. J Bone Joint Surg Am. 1999;81(4):529–534 Bowen JR, Kumar SJ, Orellana CA, Andreacchio A, Cardona JI. Factors leading to hip subluxation and dislocation in femoral lengthening of unilateral congenital short femur. J Pediatr Orthop. 2001;21(3):354–359 Clericuzio CL, Martin RA. Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia. Genet Med. 2009;11(3):220–222 Epps CH Jr. Proximal femoral focal deficiency. J Bone Joint Surg Am. 1983;65(6):867–870 Friberg O. Clinical symptoms and biomechanics of lumbar spine and hip joint in leg length inequality. Spine (Phila Pa 1976). 1983;8(6):643–651 Gillespie R, Torode IP. Classification and management of congenital abnormalities of the femur. J Bone Joint Surg Br. 1983;65(5):557–568 Griffith SI, McCarthy JJ, Davidson RS. Comparison of the complication rates between first and second (repeated) lengthening in the same limb segment. J Pediatr Orthop. 2006;26(4):534–536 Gross RH. Leg length discrepancy: how much is too much? Orthopedics. 1978;1(4):307–310 Hellsing AL. Leg length inequality. A prospective study of young men during their military service. Ups J Med Sci. 1988;93(3):245–253 Herring JA. Tachdjian’s Pediatric Orthopaedics. 3rd ed. Philadelphia, PA: WB Saunders; 2002



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Hult L. The Munkfors investigation; a study of the frequency and causes of the stiff neck-brachialgia and lumbago-sciatica syndromes, as well as observations on certain signs and symptoms from the dorsal spine and the joints of the extremities in industrial and forest workers. Acta Orthop Scand Suppl. 1954;16:1–76 Ilizarov GA. The tension-stress effect on the genesis and growth of tissues: part II. The influence of the rate and frequency of distraction. Clin Orthop Relat Res. 1989;(239):263–285 Lovell WW, Winter RB, Morrissy RT, Weinstein SLV. Lovell and Winter’s Pediatric Orthopaedics. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 1996 Makarov MR, Jackson TJ, Smith CM, Jo CH, Birch JG. Timing of epiphysiodesis to correct leglength discrepancy: a comparison of prediction methods. J Bone Joint Surg Am. 2018;100(14): 1217–1222 Menelaus MB. Correction of leg length discrepancy by epiphysial arrest. J Bone Joint Surg Br. 1966;48(2):336–339 Papaioannou T, Stokes I, Kenwright J. Scoliosis associated with limb-length inequality. J Bone Joint Surg Am. 1982;64(1):59–62 Patel M, Paley D, Herzenberg JE. Limb-lengthening versus amputation for fibular hemimelia. J Bone Joint Surg Am. 2002;84(2):317–319 Sanders JO, Browne RH, McConnell SJ, Margraf SA, Cooney TE, Finegold DN. Maturity assessment and curve progression in girls with idiopathic scoliosis. J Bone Joint Surg Am. 2007;89(1): 64–73 Shapiro F. Developmental patterns in lower-extremity length discrepancies. J Bone Joint Surg Am. 1982;64(5):639–651 Song KM, Halliday SE, Little DG. The effect of limb-length discrepancy on gait. J Bone Joint Surg Am. 1997;79(11):1690–1698 Soukka A, Alaranta H, Tallroth K, Heliövaara M. Leg-length inequality in people of working age. The association between mild inequality and low-back pain is questionable. Spine (Phila Pa 1976). 1991;16(4):429–431 Szepesi K, Rigó J, Póti L, Szücs G. Treatment of leg length discrepancy by subtrochanteric shortening of the femur. J Pediatr Orthop. 1990;10(2):183–185

Part 16: Neuromuscular Disorders, Part 1 TOPICS COVERED 61. Cerebral Palsy ....................................................................... 603 62. Myelomeningocele (Spina Bifida) ............................................. 611



601

CHAPTER 61

Cerebral Palsy Introduction/Etiology/Epidemiology

•• Cerebral palsy is a term to describe a group of permanent disorders of the

development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances in the developing fetal or infant brain. •• The motor disorders of cerebral palsy are often accompanied by changes in sensation, perception, cognition, communication, and behavior. •• Affecting 1 in 500 neonates, cerebral palsy is the most common childhood-onset neuromuscular disorder, with an estimated prevalence of 17 million people worldwide. •• The brain pathology in cerebral palsy involves the white matter, with periventricular leukomalacia being the most common finding in magnetic resonance imaging (MRI) studies. •• Cerebral palsy may result from events occurring any time from the prenatal period to 2 years of age. •• Prenatal risk factors include infection, substance use, an incompetent cervix, and third-trimester bleeding. •• Perinatal risk factors include preterm birth, low birth weight, multiple births, placental abruption, premature rupture of membranes, infection, birth trauma, perinatal stroke, and hypoxia. ——Less than 10% of cerebral palsy cases are believed to result from perinatal events during delivery. •• Postnatal risk factors include central nervous system infection and any event that results in hypoxia to the immature brain.

Signs and Symptoms

•• Developmental delay and failure to meet milestones (eg, head up, pushes up on forearms at 3 months) combined with persistence of primitive reflexes and/or muscle tone abnormalities •• Gait patterns associated with cerebral palsy include equinus gait (toe walking), scissoring gait, crouch gait, and stiff knee gait. •• Most patients have neurologic manifestations such as impaired sensation, cognition, communication, perception, and behavior. •• Seizure disorders are common. •• Gastrointestinal problems are also common, including impaired swallowing, gastroesophageal reflux, and disordered motility, which may result in malnutrition.

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Differential Diagnosis

•• Metabolic, genetic, or progressive neurodegenerative disorders must be excluded. Unlike in these disorders, in patients with cerebral palsy the brain lesion is static.

Diagnostic Considerations

•• The diagnosis is established based on history and physical examination findings. •• MRI of the brain should be performed to rule out other neurologic disorders and

confirm the clinical diagnosis of cerebral palsy as appropriate. ——Brain MRI findings are abnormal in 85% of patients with cerebral palsy, with periventricular leukomalacia the most common abnormality. •• Classification can help guide treatment and improve prognostic counseling. •• Topographic classification (Figure 61-1) reflects the location of insult to the motor cortex and pattern of limb involvement. ——Hemiplegia: involvement of one side of the body, with the upper limb more affected than the lower limb. Often associated with perinatal ischemic stroke. Common manifestations are equinus and stiff knee gait. Most patients ambulate independently. ——Diplegia: Both lower limbs are much more affected than upper limbs. Often accompanied by periventricular white matter loss. Most patients ambulate, but many require assistive devices. ——Quadriplegia: All 4 limbs and the trunk are involved. Associated with severe birth asphyxia. Patients are rarely able to functionally ambulate. •• Physiologic classification describes nature of movement disorder ——Spasticity: velocity-dependent increase in muscle tone in response to stretch and hyperexcitable stretch reflexes because of upper motor neuron dysfunction „„Most common form of cerebral palsy „„Spasticity often results in poor motor control, decreased balance, and weakness. „„Joint contractures frequently develop over time.

Unilateral cerebral palsy

Monoplegia

Hemiplegia

Bilateral cerebral palsy

Diplegia

Triplegia

Quadriplegia

Nature Reviews | Disease Primers

Figure 61-1. Topographical classification of cerebral palsy depicts the pattern of limb involvement arising from location of insult to the motor cortex. Reprinted by permission from Springer Nature: Nature Reviews Disease Primers. Graham HK, Rosenbaum P, Paneth N, et al: Cerebral Palsy. Nat Rev Dis Primers. 2016;2:15082. © Jan 7, 2016



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——Dystonia: sustained or intermittent muscle contractions causing abnormal, repetitive movements and/or postures

——Chorea: jerky, dance-like movements ——Athetosis: slow, writhing movements ——Ataxia: difficulty with coordinated movements and balance ——Hypotonia: low muscle tone with abnormal reflexes ——Mixed: a combination of these types in varying degrees

•• The Gross Motor Function Classification System (GMFCS) (Table 61-1) is the

most clinically relevant classification, used to describe motor function and predict outcome. ——Five-level grading system based on self-initiated movement, emphasizing function with regard to sitting and walking ——The distinction between levels represents functional differences thought to be meaningful in the daily lives of children with cerebral palsy. ——Increased GMFCS level correlates with increased risk of comorbidities such as scoliosis and hip dislocation

Table 61-1. GMFCS: Sixth Through Twelfth Birthday GMFCS Level

Description

I

Children walk indoors and outdoors and climb stairs without limitations. Children perform gross motor skills including running and jumping, but speed, balance, and coordination are reduced.

II

Children walk indoors and outdoors. They climb stairs holding onto a railing but experience limitations walking on uneven surfaces and inclines and walking in crowds or confined spaces. Children have at best only minimal ability to perform gross motor skills such as running and jumping.

III

Children walk indoors or outdoors on a level surface with an assistive mobility device. Children may climb stairs holding onto a railing. Depending on upper limb function, children propel a wheelchair manually or are transported when traveling for long distances or outdoors on uneven terrain.

IV

Children may maintain levels of function achieved before age 6 years or rely more on wheeled mobility at home, at school, and in the community. Children may achieve self-mobility using a powered wheelchair.

V

Physical impairments restrict voluntary control of movement and the ability to maintain antigravity head and trunk postures. All areas of motor function are limited. Functional limitations in sitting and standing are not fully compensated for through the use of adaptive equipment and assistive technology. Children have no means of independent mobility and are transported. Some children achieve self-mobility using a powered wheelchair with extensive adaptations.

Abbreviation: GMFCS, Gross Motor Function Classification System

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Treatment

•• Early intervention ——Physical therapy plays a critical role in treatment to address muscle weakness and balance deficits to maximize function.

——Children up to 3 years of age are eligible to receive therapy services as provided by law in each of the 50 states.

——Developmental assessment of abnormality determines the need for therapy intervention.

•• Treatment of spasticity ——Options include 3 broad categories „„Oral

medications: Many options exist, including baclofen, diazepam, and trihexyphenidyl. ™™ Oral tone control is useful for more global tone problems. ™™ Each medication has specific targets and unique side effect profiles, so use must be tailored to the needs of each individual patient. „„Injections: most common are botulinum toxin and phenol ™™ Injections are useful for more focal tone concerns in muscle with a dynamic (not fixed) contracture. ™™ Effects are temporary. ™™ Used in conjunction with physical therapy to maximize the patient’s range of motion and strength gains „„Neurosurgical procedures: intrathecal baclofen pump and selective dorsal rhizotomy ™™ Beneficial for carefully selected patients with severe tone limiting function ™™ Outcome studies of intrathecal baclofen use have shown significantly decreased upper and lower extremity spasticity at 6 months, decreased use of oral medications for spasticity, improvements in patient comfort, and high caregiver satisfaction. ™™ Close, consistent follow-up for pump maintenance and refills is essential because withdrawal symptoms may occur with abrupt discontinuation of oral or intrathecal baclofen, including increased spasticity, confusion, and fever. ™™ Selective dorsal rhizotomy is a neurosurgical procedure in which afferent sensory rootlets from L1-S2 are transected to decrease lower extremity spasticity and improve motor function. ™™ In carefully selected patients, selective dorsal rhizotomy has shown greater improvements in strength, gait speed, and gross motor function when compared with physical therapy alone. ™™ The ideal patient for selective dorsal rhizotomy is between 3 and 8 years old, has a history of prematurity, has pure spasticity, has the ability to ambulate without an assistive device, has no fixed contractures, and is mentally and emotionally able to cope with the surgery and rehabilitation.



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™™ Careful multidisciplinary team evaluation is necessary to determine an

individual patient’s candidacy for selective dorsal rhizotomy and for spasticity management in general. Workup includes advanced imaging, computerized gait analysis, strength and muscle tone assessments, and psychosocial evaluations. ——Botulinum toxin injections, oral diazepam, and selective dorsal rhizotomy have been shown to be effective interventions for reducing muscle spasticity. ——Spasticity management delays development of fixed contractures and deformities; however, it is only one part of treatment of patients with cerebral palsy. ——Many patients, despite having optimum spasticity management, will still go on to require orthopaedic surgery. Families should be aware of this possibility from early on, so they understand surgery is not a failure of management but rather another effective tool for treatment of patients with cerebral palsy. •• Treatment of common musculoskeletal problems ——Joint contractures „„Joint contractures in the lower extremity can occur at the hip, knee, or ankle and develop because of spasticity of the associated muscles crossing the joints. „„The primary goal of prevention and treatment of joint contracture is to reduce spasticity. „„Physical therapy is the mainstay of treatment in children younger than 2 years but should be augmented by other forms of treatment in older children. „„For an equinus gait and/or ankle contracture, an ankle-foot orthosis is used if the foot and ankle are in a position that can be braced. Often, however, surgical intervention with an Achilles tendon lengthening or gastrocnemiussoleus recession is needed. „„For a crouched gait, sacral sitting posture, and/or knee contractures, the hamstrings can be braced and stretched at night with knee immobilizers. If contractures persist, surgical intervention with hamstring lengthening is often needed. In severe cases, distal femoral osteotomies are performed. „„For hip flexion or adduction contractures for which spasticity management and physical therapy have been unsuccessful, surgical tendon lengthening is often helpful. „„In ambulatory patients, a referral for gait analysis may be suggested by the patient’s orthopaedic surgeon prior to treatment. During a gait analysis, the patient is videotaped while walking. The kinematic and kinetic data collected can be used to help the surgeon plan the appropriate soft tissue or bony procedures necessary to improve walking ability. ——Hip subluxation and dislocation „„Neuromuscular hip dysplasia, subluxation, or dislocation is linearly related to GMFCS level.

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Table 61-2. Hip Surveillance According to Gross Motor Function Classification System Level Level

Age 2–10 y

Age 10 y to Skeletal Maturity

I and II

Clinical examination and AP pelvis radiograph every 12 mo

III

Clinical examination and AP pelvis radiograph every 12 mo

IV and V

Clinical examination and AP pelvis radiograph every 6–12 mo

Clinical examination and AP pelvis radiograph every 2 y provided MP was stable over previous 2 y

Abbreviations: AP, anteroposterior; MP, migration index.

„„A

screening anteroposterior (AP) pelvis radiograph should be performed at the age of 2 years or at first presentation for every GMFCS level „„Appropriate hip surveillance should be conducted with physical examination and an AP pelvis radiograph based on GMFCS classification and age (Table 61-2). ™™ Abduction of less than 30 to 45 degrees puts the patient at risk for subluxation. ™™ Migration index (MP) is the percentage of the femoral head uncovered lateral to the acetabulum on an AP radiograph of the pelvis. An MP of more than 30 degrees is considered a subluxated hip or “hip at risk,” which should prompt a referral to an orthopaedic surgeon. An MP of greater than 90 degrees is considered a dislocated hip. ——Neuromuscular scoliosis „„Curve progression depends on severity of neurologic involvement. Severe curves (> 60 degrees) occur in up to 75% of patients with GMFCS level IV and V. „„Severe untreated curves are associated with increased incidence of pneumonia and require a significant amount of nursing care for dressing, positioning, and personal hygiene. „„Bracing may be indicated to improve sitting balance but will not alter the course of curve progression. „„Surgery may be warranted for curves greater than 45 to 50 degrees in children older than 10 years. „„Operative treatment usually involves posterior spinal fusion with instrumentation (fixation) to the sacrum or pelvis in nonambulatory patients. „„Prior to surgery, the nutritional status must be optimized, and in some cases a gastrostomy tube is required. „„Complications of spinal fusion in cerebral palsy patients with severe neuromuscular scoliosis are common, but recent evidence has demonstrated that the increased health-related quality of life after spinal fusion is worth the risk.

Expected Outcomes/Prognosis

•• Although the neurologic injury in cerebral palsy is not progressive, the

musculoskeletal manifestations of the disorder continue to worsen with time.



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•• As a result of the constant muscle shortening in spastic cerebral palsy, normal

longitudinal muscle growth is impaired, which in turn affects bone growth and development. Bony rotational deformities may develop, leading to joint incongruence and early joint degeneration if not addressed. •• The natural progression of cerebral palsy is a decline in the ability to walk, usually beginning in adolescence. •• A combination of operative and nonoperative management can delay or prevent this decline in function.

Prevention

•• Prenatal care plays an important role in prevention by educating women about

the risks to the baby from certain lifestyle choices, such as using drugs and alcohol. Intensive perinatal measures for neuroprotection are under evaluation.

When to Refer

•• While the medical home for patients with cerebral palsy is with the pediatrician,

a referral to a physiatrist (physician specializing in physical medicine and rehabilitation) and/or orthopaedic surgeon is often necessary to provide appropriate musculoskeletal surveillance. •• Patients with spasticity should be referred to a physiatrist, a physical therapist, or an orthopaedic surgeon. •• Patients with joint contractures, hip dysplasia, or scoliosis should be referred to an orthopaedic surgeon for management of these conditions.

CHAPTER 62

Myelomeningocele (Spina Bifida) Introduction/Etiology/Epidemiology

•• Myelomeningocele (also called spina bifida) is a spectrum of major birth

malformations of the spinal cord caused by failure of closure of the neural tube. •• Affected patients have varying degrees of paralysis and sensory changes in the lower extremities and bladder as well as central nervous system involvement (hydrocephalus and Arnold-Chiari malformation). •• Meningocele is a protrusion of the meninges through a defect in the posterior spinal elements, but the spinal cord and nerve roots remain in the spinal canal. •• Myelomeningocele is the most severe form of spina bifida, in which the spinal cord is exposed through the opening in the spine. It is associated with partial or complete paralysis of the parts of the body below the spinal opening. •• Lumbosacral lipoma includes lipomeningocele, an intraspinal lipoma, or a lipoma of the terminal filum. These are skin covered with a deficiency in neural arch. There are many variants, and they are associated with neurologic changes and frequently spinal deformity. •• Note: Spina bifida occulta is a developmental variant in which one or more vertebrae have defects in the posterior arch without any skin or spinal malformation. This incidental form of spina bifida does not cause disability or symptoms, and referral for evaluation is not required. •• Sacral dimple is a small dimple or pit in the midline of the lower back just above the gluteal crease. It is found in about 2% to 4% of infants and is usually benign. Rarely, it can be associated with spinal anomalies; an ultrasonographic examination is indicated if the dimple is deeper than 5 mm. Other concerning features include associated fatty lump, swelling, adjacent birthmark, patch of hair, and discoloration. •• Risk factors associated with spina bifida include ——Inadequate maternal intake of folic acid prior to conception ——History of previously affected pregnancy with the same partner ——Maternal diabetes (not gestational diabetes) ——In utero exposure to valproic acid or carbamazepine

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Signs and Symptoms

•• The level of neurologic deficit is the main determinant of functional disability and is also the method of classifying patients (Table 62-1).

•• Hydrocephalus occurs in 80% to 90% of children with spina bifida. The occurrence of hydrocephalus is related to the neurologic level.

•• Arnold-Chiari malformation involves caudal displacement of the posterior lobe of

the cerebellum into the foramen magnum. Manifestations include dysfunction of the lower cranial nerves presenting as weakness or paralysis of the vocal cords and difficulty with feeding and breathing. •• Syringomyelia (a fluid-filled cyst within the spinal cord) can cause progressive scoliosis. •• Tethered spinal cord ——Seen on nearly all magnetic resonance imaging (MRI) scans of persons with spina bifida; however, clinical signs (tethered cord syndrome) only occur in 15% to 30% of patients. ——Manifestations of tethered cord syndrome include changes in neurologic function, spasticity in the lower extremities, leg weakness, foot deformity, scoliosis, back pain, increased lumbar lordosis, and sensory changes. •• Urinary incontinence and infections •• Musculoskeletal complications of spina bifida ——Scoliosis and kyphosis „„May be neurogenic (because of shunt malformation, Arnold-Chiari malformation, or tethered cord syndrome) or secondary to the paralysis or congenital bony defects „„Kyphosis occurs in approximately 8% to 15% of children with spina bifida. „„Occurrence of scoliosis is approximately 60% and is related to the neurologic level, affecting approximately 90% of patients at the thoracic level, 44% of patients at the L1-L3 level, and 12% of patients at the L4-L5 level. „„Curves greater than 50 degrees affect sitting balance, which can lead to skin breakdown; more severe curves lead to restrictive pulmonary disease. ——Hip complications „„Hip contractures are common because of muscle imbalance or spasticity. In children who use wheelchairs, they may be caused by prolonged sitting. „„Hip dislocations occur in nearly 50% of children with spina bifida. ——Knee flexion contractures „„More common in patients with thoracic or upper-lumbar–level involvement because of prolonged sitting positions. „„Less common in patients affected at the mid-lumbar level (L3, L4, L5), and can be a significant hindrance to ambulation „„Uncommon in patients affected at the sacral level; may be a sign of spasticity and tethered cord. ——Knee extension contractures „„May occur in patients with L3- and L4-level involvement because of unopposed quadriceps action „„Prevent proper sitting and inhibit walking



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Table 62-1. Classification of Motor Function Disability

% w/ Scoliosis

% Community Ambulator Second % Hip Decade Dislocation/ Subluxation After Birth

Level

Effects on Mobility

T12

Complete loss of motor and sensory function of both lower extremities. Parapodium and reciprocating braces needed in early years; wheelchairdependent later.

90

65

0

L1

Iliopsoas and sartorius muscles present. Ambulatory with knee-ankle orthosis early but wheelchair-dependent in most cases in adolescence.

90

65

0

L2

Strong hip flexion, moderate hip adduction. Prone to develop hip flexion and adduction contracture and hip dislocation. Knee-ankle-foot orthosis early; wheelchair-dependent in most cases in adolescence.

80

75

10

L3

Strong quadriceps. Ability to extend knee. Ambulatory with knee-ankle-foot orthosis. By adolescence, household or community ambulator.

70

55

10

L4

Ankle dorsiflexion and inversion. Prone to develop calcaneal deformities of the foot. Functional ambulator with ankle-foot orthosis or knee-ankle-foot orthosis or crutches. May develop hip dislocation because of muscle imbalance around hip.

60

35

30

L5

Lacks plantar flexion. Also prone to development of calcaneal or valgus foot deformity and late hip dislocation. Ambulatory with ankle-foot orthosis.

25

20

30

S1–2

Preservation of some foot and ankle movement; ambulation with minimal support. Scoliosis uncommon. Rule out tethered cord syndrome if present.

5

Rare

> 50

S3

Mild loss of intrinsic foot muscular function possible; ambulation without support.

Rare

Rare

> 90

From Maher AB, Salmond SW, Pellino TA. Orthopaedic Nursing. Philadelphia, PA: WB Saunders; 1994:627–634, by permission.

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——Foot deformities „„Clubfoot

is most common; deformity is typically severe and rigid. foot deformities include equinus deformity (heel-cord contracture), calcaneus deformity, and calcaneovalgus deformity. „„New-onset foot deformity in the older child may be a sign of tethered cord. ——In-toeing or out-toeing ——Fractures are not uncommon in children with spina bifida. „„Nonambulatory patients are prone to metaphyseal fractures of the distal femur and proximal tibia secondary to joint contractures and relatively soft and osteoporotic bone. ™™ Mechanisms include vigorous physical therapy or inadvertent position changes by a caregiver, such as when the child is lifted out of a wheelchair and the leg gets caught. ™™ These fractures present as painless swelling with significant redness of the skin overlying the distal femur or proximal tibia and should not be mistaken for osteomyelitis. „„Ambulatory patients may develop physeal fractures or epiphysiolysis, which is a non-displaced fracture that can be slow to heal. ™™ The physis can appear irregular and widened with exuberant new bone formation around the area, manifesting as painless swelling that makes lower extremity braces tight and ill fitting. „„Other

Differential Diagnosis

•• Sacrococcygeal teratomas may mimic sacral-level spina bifida. Teratomas are usually more heterogeneous and often surround the anal canal.

•• Lipomas of the midline back may mimic lipomeningoceles; radiographs and MRI scans can distinguish between the two.

Diagnostic Considerations

•• Myelomeningocele can be diagnosed prenatally by elevated α-fetoprotein determination or ultrasonography.

•• In the neonate, diagnosis is determined based on physical examination

findings. Neurologic level is determined by neurologic examination and muscle testing. •• If tethered cord syndrome is suspected, the workup includes MRI and urodynamics. Urodynamics can show signs of tethered cord syndrome before there are orthopaedic manifestations. •• Ultrasonography of the head may be performed to evaluate for hydrocephalus. •• Predicting ambulatory function ——Good quadriceps strength, innervated by L2, L3, and L4 nerve roots, is a commonly used positive predictor of ambulation. „„Patients with weak quadriceps and no patellar reflex are better classified as L2 or L3 and thus are less likely to ambulate as adolescents than are those with strong quadriceps and intact patellar reflex.



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——While neurosegmental level is the best predictor of ambulatory function (see

Table 62-1), it is not absolute. patients with involvement at the sacral level (those who have a 90% chance of walking as adults) cannot ambulate because of spasticity or shunt problems. „„Some patients with level L3 involvement (those who typically use a wheelchair by adolescence) may continue to walk with braces as adults. ——Patients with grade 2 or better hip abductor strength tend to remain ambulatory as adults. ——Hip dislocation is not necessarily a detriment to walking; rather, it reflects the neurosegmental level, which is the main predictor of ambulation. ——Balance disturbances, spasticity in the knee and hip joints, and increased number of shunt revisions can adversely affect a child’s ability to ambulate. „„Some

Treatment

•• There are 2 options for treatment of open myelomeningocele—intrauterine

prenatal closure of the myelomeningocele or closure of the lesion after the child is born. •• The Management of Myelomeningocele Study (MOMS) demonstrated that prenatal surgery of myelomeningocele reduced the need for shunting and improved motor outcomes but was associated with maternal and fetal risks. •• Tethered cord ——Neurosurgical de-tethering has been shown to be beneficial because it stabilizes the neurologic status and prevents further deterioration. Some patients recover lost motor function, while a small percentage of patients may lose some function. ——Tethered cord syndrome can cause scoliosis, and curves less than 40 degrees may benefit from de-tethering. ——Curves greater than 40 degrees do not seem to have any improvement from de-tethering. •• Scoliosis ——Curves less than 20 degrees are treated with observation; many do not progress. ——Bracing does not change the natural history of scoliosis in spina bifida; however, it may be used for sitting balance. ——Posterior spinal fusion is usually indicated for nonambulatory patients with curves greater than 50 degrees. Fusion from the upper thoracic spine to the pelvis is common. •• Kyphosis deformity in myelomeningocele ——Kyphosis is usually resistant to bracing. ——Treatment of kyphosis can be performed in neonates at the time of sac closure, especially if the bone elements are causing tension on the spinal closure. Limited resection of the kyphotic segment with a short fusion can be performed to stabilize the kyphosis to allow closure; recurrence may be expected with long-term follow-up.

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——In older children and adolescents, treatment may involve resection of the

kyphotic segment or a posterior vertebral decancellation or resection procedure with instrumentation. The instrumentation and fusion must extend from the upper thoracic spine to the pelvis. Benefits of this procedure include substantial improvement in sitting balance and posture. ——Complications are frequent and may be severe; overall parent and patient satisfaction is high, especially with the use of modern surgical techniques, such as pedicle instrumentation. •• Hip flexion contractures ——Treatment depends on the child’s functional level; some may benefit from surgical release. ——Hip flexion contracture is not necessarily a problem in nonambulatory patients. ——Contractures of more than 30 to 40 degrees will interfere with efficient ambulation. This can be tolerated in a child walking with a reciprocating gait orthosis, whereas a flexion contracture of 20 degrees or more cannot be tolerated in a patient with lower-lumbar–level involvement. •• Hip dislocation ——Treatment of this problem is controversial; however, most orthopaedic surgeons feel that extensive surgical reconstruction is rarely indicated because the failure rate is high. ——Failed hip surgery worsens function because of resultant hip stiffness. ——Patients with thoracic and high-lumbar–level involvement rarely benefit from extensive hip surgery. ——Patients with mid-lumbar–level involvement may benefit, but the redislocation rate is high. ——Patients with sacral-level involvement with a unilateral hip dislocation are the best candidates for relocation surgery. •• Knee flexion contractures ——Surgery is performed to release the contractures if the patient is ambulatory and the contractures are interfering with bracing. ——In general, knee flexion contractures of more than 20 degrees prevent walking in knee-ankle-foot orthoses or ankle-foot orthoses. These can be surgically treated with hamstring lengthening, hamstring release, or posterior knee capsule release. ——Most patients with thoracic or upper-lumbar–level function stop ambulating during adolescence, and extensive surgery rarely changes this pattern. •• Knee extension contracture ——Casting or surgical quadriceps lengthening to obtain better motion •• Clubfoot ——Serial casting may be attempted; however, it is often not completely successful. ——Tendon releases are usually performed at about 1 year of age, with bracing afterwards. ——Recurrences can be frequent, and bracing is absolutely required to prevent further deformity. •• Other foot deformities ——Can usually be corrected with simple tendon releases ——Osteotomies may be required to achieve a plantigrade, flexible foot.



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——Joint arthrodesis (fusion) is not advisable because it can result in skin pressure sores and ulcerations.

•• In-toeing or out-toeing ——If it impairs walking or there is excessive force across the foot, a tibial and

fibular derotational osteotomy may be indicated to bring the foot into a more functional position. •• Metaphyseal fractures ——Well-padded lightweight splinting is preferable to casting because the skin has no sensation and is prone to breaking down. ——The splint may be changed when needed to ensure that there are no areas of excessive pressure or potential skin breakdown. •• Physeal fractures ——Treatment consists of decreasing activity and splinting to reduce the forces across the physis.

Expected Outcomes/Prognosis

•• Ambulatory status varies and is based on neurosegmental level (see Table 62-1). •• Seventy-eight percent of all individuals with spina bifida survive to 17 years of age; 50% survive to 30 years of age. Among survivors, 70% have an IQ of 80 or higher.

•• Leading causes of mortality are renal failure, sepsis, and shunt complications. •• Shunt infection, obstruction, and malfunction are serious complications that affect the child’s motor and intellectual development.

•• Acute shunt malfunction is an emergency.

Prevention

•• Folic acid dietary supplementation prior to conception has been shown to reduce the occurrence of neural tube defects.

•• Women without a family history of spina bifida who are planning to become

pregnant should take 0.4 mg to 0.8 mg of folic acid daily at least 1 month before conception. •• Women with a positive family history who are planning to become pregnant should take 4 mg of folic acid per day at least 1 month before conception. •• Latex allergy occurs in 27% of patients with spina bifida, caused by early and frequent exposure to latex medical products. Latex precautions are warranted for all patients with spina bifida to reduce the prevalence of latex allergy.

When to Refer

•• On diagnosis, refer to a multidisciplinary team of specialists, including a pediatric

orthopaedic surgeon, neurosurgeon, urologist, and neurodevelopmental specialist.

Resources for Physicians and Families

•• National Institute of Neurological Disorders and Strokes definition of spina bifida (https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/ Spina-Bifida-Fact-Sheet#3258_2)

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•• Spina Bifida Association Website (https://www.spinabifidaassociation.org/) •• Centers for Disease Control and Prevention Folic Acid Materials and Multimedia (https://www.cdc.gov/ncbddd/folicacid/materials/index.html)

Bibliography—Part 16 Adzick NS, Thom EA, Spong CY, et al; MOMS Investigators. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011;364(11):993–1004 Banta JV. Combined anterior and posterior fusion for spinal deformity in myelomeningocele. Spine (Phila Pa 1976). 1990;15(9):946–952 Bare A, Vankoski SJ, Dias L, Danduran M, Boas S. Independent ambulators with high sacral myelomeningocele: the relation between walking kinematics and energy consumption. Dev Med Child Neurol. 2001;43(1):16–21 Bartonek A, Saraste H. Factors influencing ambulation in myelomeningocele: a cross-sectional study. Dev Med Child Neurol. 2001;43(4):253–260 Crawford AH, Strub WM, Lewis R, et al. Neonatal kyphectomy in the patient with myelomeningocele. Spine (Phila Pa 1976). 2003;28(3):260–266 De Souza LJ, Carroll N. Ambulation of the braced myelomeningocele patient. J Bone Joint Surg Am. 1976;58(8):1112–1118 DiFazio R, Shore B, Vessey JA, Miller PE, Snyder BD. Effect of hip reconstructive surgery on health-related quality of life of non-ambulatory children with cerebral palsy. J Bone Joint Surg Am. 2016;98(14):1190–1198 DiFazio RL, Miller PE, Vessey JA, Snyder BD. Health-related quality of life and care giver burden following spinal fusion in children with cerebral palsy. Spine (Phila Pa 1976). 2017;42(12):E733– E739 Graham HK, Rosenbaum P, Paneth N, et al. Cerebral palsy. Nat Rev Dis Primers. 2016;2(1):15082 [Published correction appears in Nat Rev Dis Primers 2016;2:16005.] Hägglund G, Alriksson-Schmidt A, Lauge-Pedersen H, Rodby-Bousquet E, Wagner P, Westbom L. Prevention of dislocation of the hip in children with cerebral palsy: 20-year results of a population-based prevention programme. Bone Joint J. 2014;96-B(11):1546–1552 Kirk VG, Morielli A, Brouillette RT. Sleep-disordered breathing in patients with myelomeningocele: the missed diagnosis. Dev Med Child Neurol. 1999;41(1):40–43 Maher AB, Salmond SW, Pellino TA. Orthopaedic Nursing. Philadelphia, PA: WB Saunders; 1994:627–634 Mazur JM, Shurtleff D, Menelaus M, Colliver J. Orthopaedic management of high-level spina bifida. Early walking compared with early use of a wheelchair. J Bone Joint Surg Am. 1989;71(1):56– 61 Miyanji F, Nasto LA, Sponseller PD, et al. Assessing the risk-benefit ratio of scoliosis surgery in cerebral palsy: surgery is worth it. J Bone Joint Surg Am. 2018;100(7):556–563 Nieto A, Mazón A, Pamies R, et al. Efficacy of latex avoidance for primary prevention of latex sensitization in children with spina bifida. J Pediatr. 2002;140(3):370–372 Nolden MT, Sarwark JF, Vora A, Grayhack JJ. A kyphectomy technique with reduced perioperative morbidity for myelomeningocele kyphosis. Spine (Phila Pa 1976). 2002;27(16):1807–1813 Novak I, McIntyre S, Morgan C, et al. A systematic review of interventions for children with cerebral palsy: state of the evidence. Dev Med Child Neurol. 2013;55(10):885–910



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Palisano R, Rosenbaum P, Walter S, Russell D, Wood E, Galuppi B. Development and reliability of a system to classify gross motor function in children with cerebral palsy. Dev Med Child Neurol. 1997;39(4):214–223 Pierz K, Banta J, Thomson J, Gahm N, Hartford J. The effect of tethered cord release on scoliosis in myelomeningocele. J Pediatr Orthop. 2000;20(3):362–365 Pillitteri A. Child Health Nursing: Care of the Child and Family. Philadelphia, PA: Lippincott Williams & Wilkins; 1999 Rosenbaum P, Paneth N, Leviton A, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl. 2007;109:8–14 Schoenmakers MA, Gooskens RH, Gulmans VA, et al. Long-term outcome of neurosurgical untethering on neurosegmental motor and ambulation levels. Dev Med Child Neurol. 2003;45(8):551–555 Selber P, Dias L. Sacral-level myelomeningocele: long-term outcome in adults. J Pediatr Orthop. 1998;18(4):423–427 Sponseller PD, Young AT, Sarwark JF, Lim R. Anterior only fusion for scoliosis in patients with myelomeningocele. Clin Orthop Relat Res. 1999;364:117–124 Swaroop VT, Dias L. Orthopedic management of spina bifida. Part I: hip, knee, and rotational deformities. J Child Orthop. 2009;3(6):441–449 Swaroop VT, Dias L. Orthopaedic management of spina bifida—part II: foot and ankle deformities. J Child Orthop. 2011;5(6):403–414 Terjesen T, Lange JE, Steen H. Treatment of scoliosis with spinal bracing in quadriplegic cerebral palsy. Dev Med Child Neurol. 2000;42(7):448–454 Thomason P, Selber P, Graham HK. Single event multilevel surgery in children with bilateral spastic cerebral palsy: a 5 year prospective cohort study. Gait Posture. 2013;37(1):23–28 Trivedi J, Thomson JD, Slakey JB, Banta JV, Jones PW. Clinical and radiographic predictors of scoliosis in patients with myelomeningocele. J Bone Joint Surg Am. 2002;84(8):1389–1394

Part 17: Neuromuscular Disorders, Part 2 TOPICS COVERED 63. Neurodegenerative Disorders ................................................... Duchenne Muscular Dystrophy Becker Muscular Dystrophy 64. Hereditary Neuropathies: Charcot-Marie-Tooth Disease ............. 65. Spinal Muscular Atrophy ........................................................ 66. Friedreich Ataxia ................................................................... 67. Arthrogryposis ......................................................................

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631 637 645 653

CHAPTER 63

Neurodegenerative Disorders Duchenne Muscular Dystrophy INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Duchenne muscular dystrophy (DMD) is an X-linked recessive condition (boys affected) characterized by progressive muscle atrophy and weakness, caused by absence of dystrophin. •• Without dystrophin, the sarcolemma of muscles (crucial for the stability of the cell membrane) is not protected from injury during forceful contractions; as a result, muscle fibers become necrotic and inflamed and are replaced by fat and fibrous tissue. •• Prevalence is 1 per 3,500 boys. •• Rarely, DMD occurs in girls with X inactivation or Turner syndrome. •• Family history is positive in approximately 65% of cases. SIGNS AND SYMPTOMS

•• Becomes clinically evident between 3 and 6 years of age •• Muscle weakness develops symmetrically and is first noticed in the proximal muscles, often the hip extensors.

•• Early symptoms include toe walking, delayed ambulation, frequent tripping and falling, and difficulty with running and climbing stairs.

•• Later in the disease ——Contractures develop, especially of the hip abductors, then hip and knee flexors and ankle dorsiflexors.

——Progressive inability to walk and ultimate dependence on mobile devices or wheelchair by 7 to 16 years of age

——Scoliosis develops in about 95% of patients with DMD (Figure 63-1). „„Scoliosis

progresses rapidly, especially after a child loses walking ability. patterns are long, sweeping, and associated with pelvic obliquity (wheelchair sitting is an issue). „„Spine radiographs are indicated in nonambulatory patients and those with spinal asymmetry. „„Curve

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Figure 63-1. Progression of scoliosis in Duchenne muscular dystrophy over a 5-year period after cessation of walking ability. A, 12 degrees. B, 38 degrees. C, 105 degrees.

——Muscle pain accompanies the progressive physical disability, leading to

diminished participation and enjoyment of activities of daily living. Pain may also result from overly zealous passive range of motion therapy and prolonged sitting with inability to shift weight for comfort. •• Physical examination findings ——Ankle equinus is an early overt sign of DMD, leading to toe walking. ——Waddling, wide-based gait because of weakness and an attempt to attain stability ——Pseudohypertrophy of the calves, which results from replacement of muscle tissue by fat and fibrous tissue (Figure 63-2) ——Gowers sign is present in DMD—difficulty rising from a seated position on the floor without using arms to push hips and knees into extension because of weakness of the pelvic girdle and proximal thigh muscles (see Chapter 4, Physical Examination, Figure 4-3). Some describe this as the child “walking” the hands up the legs to raise the trunk to an upright position from the floor. ——Positive Trendelenburg sign (see Figure 4-24) is also common—when the child stands on one leg, there is a drop in the non–weight-bearing hemipelvis, indicating a weakness of the gluteal muscles and hip abductors of the standing leg. ——Meryon sign also is a common physical finding, wherein the child slips through when the examiner attempts to lift from under the axilla.



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Figure 63-2. Pseudohypertrophy of the calf muscles in a child with Duchenne muscular dystrophy.

•• Associated non-musculoskeletal findings ——More than 90% of children with DMD have abnormal electrocardiography

findings such as sinus tachycardia, cardiac hypertrophy, and diminished QRS complex. ——Mitral valve prolapse is also a characteristic finding because of papillary muscle involvement. ——Reduced pulmonary function, including diminished expiratory muscle strength ——Mild intellectual disability is common, with the average IQ approximately 80.

DIFFERENTIAL DIAGNOSIS

•• Becker muscular dystrophy (BMD) ——Presents at a later age with less severe symptoms ——Dystrophin levels are diminished, not absent as in DMD. •• Facioscapulohumeral muscular dystrophy ——Occurs in either sex ——Mild involvement ——Usually presents in the second decade ——Facial muscles are often affected. ——Pseudohypertrophy of the calves is very rare. •• Polymyositis ——Occurs in either sex ——Like muscular dystrophies, presents with an elevated creatine kinase (CK) level ——Deep tendon reflexes are preserved longer. ——Muscular atrophy and pseudohypertrophy are uncommon.

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DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is suggested by classic signs and symptoms and elevated serum CK

level, and confirmed by genetic testing; muscle biopsy, which was done before the advent of genetic testing, is seldom needed currently. •• In DMD, CK levels are elevated more than a hundredfold, or even up to 200- to 300-fold. •• CK levels are usually highest in the early stages, then approach normal in the end stages of the disease as muscle is gradually replaced by fat and fibrous tissue. •• CK is not specific for muscular dystrophies because levels are elevated in any muscle disease. •• DMD and BMD cannot be differentiated solely based on CK level. •• Aldolase is elevated in muscular dystrophy, but it is not unique to striated muscle. •• Serum glutamic oxaloacetic transaminase and lactate dehydrogenase may also be elevated but are not specific to muscle disease. TREATMENT

•• Treatment is focused on maintaining functional capacity using a multidisciplinary

approach, including physical therapy, orthoses, surgery, wheelchair, cardiac and pulmonary management, and genetic and psychological counseling. •• Corticosteroids ——Oral prednisone has been shown to slow the progression of muscle weakness and severe scoliosis. ——Because of significant morbidity—weight gain and osteopenia—use of prednisone in muscular dystrophy remains controversial. •• Physical therapy ——May prolong muscle strength and ambulatory potential, and delay or prevent contractures; does not correct established contractures. ——A program of low-intensity exercise is preferred; traditionally, eccentric exercise (eg, the downward movement of squats, repeated stepping-down motion from a step) is avoided to prevent muscle damage. Resistance exercises should be initiated as soon as a diagnosis of DMD is established because progressive weakness leads to adaptive posturing and contractures. •• Bracing ——Night splints for heel-cord and knee-flexor stretching are an adjunct to physical therapy. •• Surgery ——The role of surgery in DMD is early treatment of contractures and scoliosis. ——Surgical correction of contractures should be considered when ambulation or daily activities are affected. ——Studies have shown that correction of contractures and use of orthoses can prolong ambulation for 1 to 3 years. ——Shapiro and Specht classified approaches to surgical intervention (Box 63-1). ——Children with DMD may lose the ability to walk between 7 and 16 years of age. As such, it is difficult to determine whether prolonged ambulation



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Box 63-1. Approaches to Surgical Intervention in Duchenne Muscular Dystrophy 1. Early, extensive ambulatory approach (releases at the hip, hamstrings, heel cords, and posterior tibialis transfer before onset of contractures) 2. Moderate ambulatory approach (no hip releases, and surgery performed when child has difficulty ambulating) 3. Minimum ambulatory approach (correction only of equinus contractures) 4. Rehabilitative approach (surgery after child has stopped walking with the goal of resuming ambulation) 5. Palliative approach

was maintained by surgical intervention, or if those children with prolonged walking simply had milder forms of the disease. ——Once a child has stopped walking, surgery should be promptly performed within 3 to 6 months to make ambulation possible again. ——Ambulatory patients use their equinus deformity to compensate for proximal weakness. ——Spine fusion in children with DMD is indicated for curves greater than 30 degrees—curve progression is inevitable and pulmonary function will deteriorate over time as the curve progresses; the rationale for early surgery is stabilization of pulmonary status, comfortable sitting, improved head control, and independent hand function. ——Scoliosis surgery is best tolerated in children whose forced vital capacity (FVC) is above 35% of normal. Some have even recommended surgery for curves greater than 20 degrees in children whose FVC is greater than 40% of normal. The risks of prolonged postoperative mechanical ventilation and pneumonia increase with more advanced pulmonary disease, so preoperative cardiac and pulmonary evaluation are mandatory. •• Medical concerns in the perioperative period ——Malignant hyperthermia can be associated with muscular dystrophies; therefore, use of inhalational anesthetic agents is avoided. ——Anaphylaxis caused by latex allergy, airway obstruction, and intraoperative cardiac arrest has been described. EXPECTED OUTCOMES/PROGNOSIS

•• Life expectancy of a boy born with DMD in 2020 is 40 years. WHEN TO REFER

•• Refer all suspected cases of muscular dystrophy to a pediatric orthopaedic surgeon or neuromuscular specialist for evaluation (muscle biopsy) and management. •• Refer to an orthopaedic surgeon as soon as diagnosis is determined. •• Refer to a geneticist for genetic testing and counseling.

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Clinical Pearls (Duchenne Muscular Dystrophy) 1. Look for pseudohypertrophy of calf muscles and Gowers sign on physical examination. 2. Creatine kinase level is very high early in the disease and decreases with progression of the disease. 3. Refer to geneticist for genetic testing and counseling. 4. Refer to orthopaedic surgeon as soon as diagnosis is determined. 5. Spine fusion is indicated for scoliosis greater than 20 degrees and forced vital capacity greater than 40% of normal. 6. Malignant hyperthermia is a risk during anesthesia.

Becker Muscular Dystrophy INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• BMD is an X-linked recessive disorder resulting in weakness of proximal musculature.

•• Unlike DMD, BMD mutation results in a lower molecular weight dystrophin or a normal molecular weight dystrophin in reduced quantities.

•• A consistent relationship exists between the amount and quality of dystrophin present and the disease severity.

•• BMD is much rarer than DMD, with a prevalence of 1 in 42,000 boys. SIGNS AND SYMPTOMS

•• Similar to DMD except ——Presents at a later age ——Disease progression is slower. ——Proximal lower extremity weakness is the most prominent early symptom, with some children showing early weakness of the neck flexors.

——Severe contractures are uncommon before the child becomes wheelchairdependent.

——Scoliosis is also relatively rare. ——Ability to ambulate may be retained beyond 16 years of age, with some patients ambulating into the early adult years, sometimes as late as 40 years of age.

——Up to 70% of patients have electrocardiographic abnormalities and may develop cardiomyopathy.

DIFFERENTIAL DIAGNOSIS

•• See DMD. DIAGNOSTIC CONSIDERATIONS

•• Muscle biopsy to confirm the diagnosis of BMD is rarely needed in the modern era. ——Reveals diminished, rather than absent, dystrophin levels. •• Laboratory findings are similar to those of DMD.



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TREATMENT

•• Similar to that for DMD •• Achilles tendon lengthening surgery with or without tibialis posterior tendon transfer when indicated is performed to treat equinus foot deformity.

•• Loss of muscle strength occurs at a much slower rate; lower extremity bracing is an important adjunct to therapy.

EXPECTED OUTCOMES/PROGNOSIS

•• Children with BMD live longer than those with DMD, so more stress is placed on treatment of the already weakened myocardium to try to delay or prevent mitral regurgitation and heart failure. •• Restrictive lung disease may occur late, but cardiomyopathy is disproportionately severe and is a major risk of early death. WHEN TO REFER

•• Refer all suspected cases of muscular dystrophy to a pediatric orthopaedic surgeon or neuromuscular specialist for muscle biopsy.

•• Refer to an orthopaedic surgeon as soon as diagnosis is determined. •• Refer to a geneticist for genetic testing and counseling. Clinical Pearls (Becker Muscular Dystrophy) 1. Similar to Duchenne muscular dystrophy but with milder clinical course 2. Longer life span makes follow-up of cardiac and pulmonary disease more important. 3. Bracing is an important adjunct to therapy because of preservation of muscle strength.

CHAPTER 64

Hereditary Neuropathies: Charcot-Marie-Tooth Disease Introduction/Etiology/Epidemiology

•• Charcot-Marie-Tooth (CMT) disease is a common form of polyneuropathy considered a hereditary sensory and motor neuropathy.

•• It manifests with symmetric weakness of distal muscles, especially of the lower extremities.

•• Hallmark presentation is the cavus foot due to selective functional loss of the anterior compartment muscles of the lower extremities

•• Prevalence is 1 in 2,500 individuals •• The most common form of inheritance is autosomal dominant, but other subtypes can be autosomal recessive or X-linked.

•• The 2 main subtypes are CMT 1 and CMT 2. ——CMT 1 (hypertrophic or demyelinating type) is most common, accounting for 60% to 80% of cases.

——CMT 2 (axonal or neuronal type) accounts for 20% to 40% of cases. The disease progresses very slowly, with a highly variable severity.

•• Clinical findings in CMT are caused by disrupted axonal transport and impaired intracellular protein trafficking.

•• Since the mid-1990s, more than 30 affected genes have been identified in cases of CMT, and many more may ultimately be described.

Signs and Symptoms

•• Onset of CMT 1 typically occurs in adolescence or early adulthood. •• Onset of CMT 2 is at an older age, often in the third decade after birth. •• Early symptoms include frequent tripping, toe walking, foot pain caused by cavovarus foot deformity, and unstable ankles.

•• Foot problems such as cavovarus foot are the most common orthopaedic manifestation of CMT.

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——Atrophy and contracture of the intrinsic muscles of the foot, contracture of the

plantar fascia, and weakness of the peroneus brevis and anterior tibialis lead to foot changes, including plantar flexion of the first ray, forefoot equinus, and hindfoot varus (Figure 64-1). ——The probability of a patient with bilateral cavovarus feet being diagnosed with CMT, regardless of family history, is as high as 78%. •• Weakness of the upper limbs presents later in the disease and slowly progresses proximally, ultimately affecting the hands, forearms, and upper arms. •• Physical examination findings ——Cavovarus (high arch) foot deformity ——Tight heel cords ——Inability to walk on heels ——Calf muscle atrophy causes a stork leg. ——Claw toes or hammer toes ——Plantar flexed first metatarsal ——Intrinsic muscle atrophy of the hand and feet occurs as early as the first decade or as late as the third decade (Figure 64-2). „„Difficulty with thumb opposition and side-to-side pinch „„Clawing of the fingers, with ring and small digits affected first „„In general, muscles innervated by ulnar and peroneal nerves are affected, while those innervated by the radial and tibial nerves are spared. ——Diminished or absent deep tendon reflexes (DTRs), especially at the ankles „„Knee reflexes are affected after ankle reflexes. „„DTRs are usually normal in CMT 2. Figure 64-1. Cavus foot in a child with Charcot-Marie-Tooth disease. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1047. Reproduced with permission.

Figure 64-2. Intrinsic muscle wasting of the hand in a child with Charcot-Marie-Tooth disease.



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Figure 64-3. Pelvis radiograph of acetabular dysplasia in a child with Charcot-MarieTooth disease.

——Sensory deficits are less pronounced than motor deficits. „„Distal

impairment of sensory functions in a stocking distribution, including vibratory sense, light touch, and position sense „„Pain and temperature sensation are also affected, manifesting before or after changes in vibratory sense. „„Because of loss of protective sensation in distal extremities, patients with CMT are susceptible to skin breakdown, burns, and foot ulcers. ——Cranial nerves are usually normal, but hearing deficits may be present. ——Steppage gait (drop foot in the swing phase) is apparent early in the disease. As the dorsiflexors become progressively weaker, the gait becomes more highstepping, with compensatory increase in flexion of the knee and hip. ——Hip or acetabular dysplasia occurs in 6% to 8% of cases. „„Weakness of the proximal muscles may be the deforming force that, over time, results in a shallow acetabulum and a valgus, anteverted femoral neck. „„Often presents as hip pain between 5 and 15 years of age. „„Radiographic findings are acetabular dysplasia and mild subluxation (Figure 64-3). „„Annual hip radiographs allow for earlier detection. ——Scoliosis occurs in 10% to 50% of cases. „„Tends to occur in adolescents with CMT, rather than in children. „„If scoliosis is observed at a young age, magnetic resonance imaging (MRI) should be used to evaluate for structural neural abnormalities. „„Left-thoracic curves are more common and there is more kyphosis and a higher rate of progression, despite bracing, compared with idiopathic scoliosis.

Differential Diagnosis

•• Chronic inflammatory demyelinating polyradiculoneuropathy ——Differentiated from CMT by a negative family history, variable age of onset, and course that may be progressive or relapsing, and rarely associated with skeletal deformities. ——Diagnostic testing reveals nonhomogeneous conduction slowing.

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•• Dejerine-Sottas disease ——Hereditary sensory motor neuropathy that may be a variant of CMT 1 ——Onset of symptoms by age 2 years with delayed acquisition of motor milestones ——Severe motor and sensory involvement, with proximal muscles commonly affected

——Ataxia and scoliosis are common manifestations. ——Motor conduction velocity is drastically reduced.

•• Hereditary neuropathy pressure palsy (also known as “tomaculous neuropathy”) ——Autosomal-dominant disorder with acute and transient episodes of focal neuropathies

——Episodes are usually painless, may be recurrent, and often follow trivial trauma or pressure.

——Patients often report paresthesias with compression, for example, on leg crossing, leaning on elbows, carrying plastic bags, or wearing rings.

——Nerve conduction velocities (NCVs) reveal conduction abnormalities primarily at common entrapment sites.

•• Refsum disease ——Rare recessive disorder with relapsing-remitting generalized sensorimotor polyneuropathy of peripheral nerves

——Pes cavus is often present. ——Nerve biopsy reveals demyelination. ——Unique features include salt-and-pepper retinitis pigmentosa and cerebellar ataxia.

•• Spinal cord lesions ——Although CMT is the most common neurologic cause of a cavus foot, other

intraspinal causes should be considered, including syringomyelia, tethered cord, and lipomeningocele. ——All patients with suspected CMT should undergo a comprehensive spine and neurologic examination. If there is hyperreflexia or asymmetry in reflexes, MRI and neurologic consultation are obtained to rule out spinal cord lesion.

Diagnostic Considerations

•• Electrical testing: NCVs are the most important first-line diagnostic tool for the classification of CMT disease. ——Motor conduction velocities may be decreased in CMT even before clinical symptoms manifest. ——In CMT 1, NCVs are consistently diminished, usually less than 38 m per second, while normal is greater than 42 m per second. ——In CMT 2, NCVs are normal or only minimally diminished, but the compound muscle action potential is decreased. •• If NCV is inconclusive, nerve biopsy is performed to confirm the diagnosis. ——The sural nerve is commonly used. ——CMT 1—onion-bulb hypertrophy of the myelin sheath caused by cycles of demyelination and remyelination ——CMT 2—axonal loss and no evidence of demyelination, with few or absent onion bulbs



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Treatment

•• Medications ——Acetaminophen and nonsteroidal anti-inflammatory drugs are used to treat musculoskeletal pain.

——Neuropathic pain may respond to tricyclic antidepressants, carbamazepine, or gabapentin.

——Medications known to cause nerve damage (eg, vincristine, isoniazid, nitrofurantoin) should be avoided.

•• Physical therapy ——Daily heel-cord stretching can help prevent Achilles tendon contracture. ——Physical therapists can also assist patients with walking. •• Orthoses ——Shoes with good ankle support or ankle braces may be needed. ——Forearm crutches or a cane may be necessary to improve gait stability. ——Ankle-foot orthoses can correct foot drop and help with ambulation. ——Wrist and hand orthoses can also maintain functional positions. •• Surgery ——Cavovarus foot deformity „„In

young patients with flexible deformity, soft tissue surgery (ie, radical plantar fascia release, transfer of the posterior tibialis tendon to the dorsum of the foot, or peroneus longus to brevis transfer). „„Forefoot plantar flexion can be corrected with metatarsal osteotomy as long as the hindfoot varus remains flexible. „„Over time, the foot deformities become fixed so calcaneal, midfoot, or forefoot osteotomies are necessary. Triple arthrodesis is reserved as a salvage procedure. „„Patients and families should be cautioned that the recurrence rate of deformity is high after all types of surgery. ——Toe walking „„The equinus deformity in CMT is in the forefoot, not the calcaneus; lengthening the Achilles tendon is not part of the corrective surgery. ——Hip dysplasia (silent) „„Requires surgical correction, even if asymptomatic „„Redirectional osteotomy of the acetabulum (eg, periacetabular osteotomy) „„Children with weak hip abductors do not function well after femoral (varus) osteotomy; gait abnormality tends to get worse. „„If dysplasia and subluxation are still present after acetabular osteotomy, a proximal femur varus rotation osteotomy may be indicated. ——Scoliosis „„Because of failure of orthotic management and high rate of progression, spinal fusion is often indicated. „„Neuromonitoring during surgery is rarely possible because of the underlying demyelinating polyneuropathy. „„Intraoperative wake-up test may not be possible as a result of the lower extremity weakness •• Genetic counseling is offered so patients understand the potential risk of passing CMT on to their children and can make informed decisions.

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Expected Outcomes/Prognosis

•• Depends on the type of CMT •• Progression of symptoms is very gradual, but eventually causes disability because of distal muscle weakness and deformities.

•• Wheelchair dependency is rare (< 5%). •• CMT disease does not affect life expectancy.

When to Refer

•• Refer suspected cases of CMT to a pediatric neurologist for further evaluation with electromyography and NCV studies.

•• Refer to an orthopaedic surgeon for management of musculoskeletal issues, lower extremity deformities, and hip surveillance.

•• Referral to a geneticist is also advisable. Clinical Pearls (CMT Disease)

1. Manifests with cavovarus foot deformity or toe walking. 2. Hip and spine radiographs should be included in the evaluation of cavovarus feet. 3. Refer to geneticist for genetic testing and counseling. 4. Refer to neurologist for nerve conduction testing and electromyography. 5. Hip dysplasia requires treatment even if asymptomatic. 6. Scoliosis is often progressive and requires spine fusion.

CHAPTER 65

Spinal Muscular Atrophy Introduction/Etiology/Epidemiology

•• Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality.

•• It is characterized by degeneration of the α-motor neurons in the anterior horn of the spinal cord and lower bulbar nuclei.

•• Generally transmitted in an autosomal-recessive manner, it affects all ethnic

groups. Incidence is 1 per 11,000 live births with a healthy carrier frequency of 1:40 to 1:60. De novo mutations occur in 2% of patients. •• The most common type of SMA is caused by mutations in the survival motor neuron (SMN) 1 gene, SMN1, in chromosome 5 resulting in SMN protein deficiency. A similar SMN2 gene produces small amounts of functional SMN protein, which influences the SMA phenotype. The most severe (SMA type 0) typically has 1 copy of SMN2 gene, whereas the least severe (type 4) has 4 or more copies.

Signs and Symptoms

•• Varying degrees of diffuse, symmetric, proximal trunk and limb weakness, greater in lower versus upper extremities. Bulbar and respiratory weakness is associated with more severe limb weakness. •• Deep tendon reflexes are markedly decreased or absent. •• Sensation and intelligence are typically normal; cases of severe SMA with brain, cardiovascular, and autonomic and sensory nervous system involvement have been reported. •• Varying degrees of restrictive respiratory insufficiency can occur. •• Classified into 5 subtypes based on maximum attainable physical function and associated SMN2 gene copy number (Box 65-1).

Box 65-1. Classification of Spinal Muscle Atrophy Type 0 • Age of onset, fetal; age of diagnosis, birth • Congenital joint contractures • Severe hypotonia with an inability to sit or roll • Muscle atrophy and areflexia • Respiratory insufficiency at birth • Death by a few weeks after birth 637

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Box 65-1. Classification of Spinal Muscle Atrophy, continued Type 1 (Werdnig-Hoffman/infantile onset disease) • Most common variety (45% of cases), and most severe variety • Age of onset, fetal or infancy; age of diagnosis, younger than 2 weeks–6 months • Severe generalized hypotonia; proximal muscle weakness and absent DTR • Never roll or sit independently • Weakness of the lower bulbar muscles results in a poor suck-swallow reflex, weak cry, tongue fasciculation, and greater susceptibility to aspiration pneumonia • Weak intercostal muscles and relative sparing of the diaphragm lead to a bell-shaped chest and paradoxical breathing with respiratory insufficiency • Infant has alert expression, furrowed brow, and normal eye movements because upper cranial nerves are spared • Most have normal sensation, but in severe cases, sensory nerve involvement has been reported • Mean life expectancy is 2–4 years of age Type 2 (intermediate or juvenile spinal muscular atrophy) • About 20% of cases • Age of onset, infancy; age of diagnosis, 6–18 months • Mild to moderate hypotonia • Progressive muscle weakness (proximal to distal, lower limbs to upper limbs to trunk) with or without areflexia • Tongue atrophy with fasciculation; finger polymyoclonus tremor • Can sit without support by 9 months; some can stand but cannot walk independently; verbal intelligence may be above average • Difficulty chewing, swallowing, and coughing; prone to respiratory insufficiency • Joint contractures are common. Progressive kyphoscoliosis can prevent comfortable sitting and can further compromise lung function with age. • Greater risk of becoming overweight • Ninety-three percent live to 25 years of age. Type 3 (Kugelberg-Welander syndrome) • About 30% of cases • Age of onset, early to late childhood; age of diagnosis, 6–36 months • Progressive proximal muscle weakness; DTR reduced or absent; finger polymyoclonus tremor • Standing and walking are typical, but jumping or running are less likely; many lose all these abilities over time • Ambulatory patients may have a foot deformity. Those who lose ambulation often develop obesity, scoliosis, and osteoporosis. • There is little to no respiratory muscle weakness • Most have a normal life expectancy Type 4 • Less than 5% of cases • Age of onset, adult; age of diagnosis, 35 years or older • Onset of proximal muscle weakness with gross motor function difficulty • Mildest clinical course; normal motor milestones until early adulthood • No respiratory or nutritional problems • Normal life expectancy Abbreviation: DTR, deep tendon reflexes.



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MUSCULOSKELETAL COMPLICATIONS

•• Scoliosis is primarily noted in patients with SMA types 2 and 3. It is caused by

severe truncal weakness and is associated with gastrointestinal reflux, respiratory dysfunction, and postural discomfort. ——Prevalence of scoliosis is 60% to 95% (SMA type 2 is toward the higher end of the range), with a progression of approximately 7 degrees per year. ——Scoliosis varies from the characteristic long C-shaped curves (up to 88% of patients) beginning in the mid to upper thorax with pelvic tilt, to the less common S-shaped curves with thoracic and compensatory lumbar curves. •• Kyphosis often occurs with SMA types 2 and 3 and is associated with scoliosis. •• Rib cage distortion is associated with the caudal rotation of ribs in a convex chest. •• Pelvic tilt tends to occur with long C-shaped progressive curves that extend beyond the L5 vertebra into the sacrum. This often interferes with sitting balance and quality of life (Figure 65-1).

Figure 65-1. Preoperative (A) and postoperative (B) spinal views showing differences in spinal alignment in an adolescent 15 years of age with severe kyphoscoliosis, pelvic obliquity, and type 2 spinal muscular atrophy. Note the immediate effect on the lung fields. Courtesy of Neil-Saran, MD, MHSc, FRCSC, and McGill Scoliosis & Spine Group.

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•• Hip dislocation or subluxation ——Occurs in all SMA types (approximately 20%–40% of patients with SMA) ——May be unilateral or bilateral and typically is not painful. Initially flexible, this deformity becomes rigid over time.

——In severely affected patients, it may occur before severe pelvic obliquity is

established. Unilateral dislocations are usually noted in patients with pelvic tilt.

——Most have an associated C-shaped scoliosis with pelvic obliquity. The

acetabulum on the higher side of the tilted pelvis (adjacent to the concavity of the scoliosis curve) provides less coverage around the ipsilateral femoral head. As the pelvis tilts further, progressive subluxation and dislocation of the femoral head occurs on the high side. Simultaneously, a progressive coxa valga, anteversion, and adduction deformity of the lower femoral head and neck takes place. •• Joint contractures affect half of patients with SMA. These occur especially in the lower extremities of nonambulatory patients and are painful and disabling. Contractures greater than 45 degrees are considered intractable. •• Reduced bone mineral density, increased bone resorption markers, and low 25-OH vitamin D levels have been demonstrated even in younger children. •• Fractures are common, especially affecting the distal femur, lower leg, ankle, and upper arm. They often occur during low-impact activity or spontaneously because of significant bone fragility. •• Foot deformity is typically equinus with a varus or valgus component.

Differential Diagnosis

•• The efficiency of molecular testing and high frequency of SMA in the population

should lead to an early diagnosis of SMA in an infant presenting with hypotonia. Other neuromuscular disorders presenting in the neonatal period and infancy are summarized in Table 65-1.

Table 65-1. Neuromuscular Disorders Presenting in Neonatal Period Type of Pathology

Specific Disorders

Anterior horn cell

Spinal muscular atrophy type 1 X-linked infantile spinal muscular atrophy Spinal muscular atrophy type 1 with respiratory distress Traumatic myelopathy Hypoxic ischemic myelopathy Neurogenic arthrogryposis Spinal cord tumor

Congenital hypomyelination and axonal neuropathies

HMSN HMSN/CMT disease types 3, 4, 6, and 7 Giant axonal neuropathy HSAN type III (also called Riley-Day syndrome)



Chapter 65: Spinal Muscular Atrophy

Table 65-1. Neuromuscular Disorders Presenting in Neonatal Period, continued Type of Pathology

Specific Disorders

Neuromuscular junction disorders

Transient-acquired neonatal myasthenia Congenital myasthenic syndromes Infantile botulism Magnesium or aminoglycoside toxicity

Congenital myopathies

Nemaline myopathy Central core disease Multiminicore myopathy Congenital fiber-type disproportion Centronuclear (myotubular) myopathies

Muscular dystrophies

Classic congenital muscular dystrophy with and without merosin deficiency Ullrich congenital muscular dystrophy and Bethlem myopathy Dystroglycanopathies (Duchenne muscular dystrophy, Becker muscular dystrophy) Congenital muscular dystrophy with structural CNS abnormality Muscle-eye-brain disease Walker-Warburg syndrome Fukuyama type congenital muscular dystrophy Congenital muscular dystrophy with cerebellar atrophy Congenital muscular dystrophy with occipital agyria Early infantile facioscapulohumeral muscular dystrophy Congenital myotonic dystrophy

Metabolic disorders

Disorders of glycogen metabolism (GSD) GSD type II: Pompe disease GSD type VII: Severe neonatal phosphofructokinase deficiency GSD type V: Severe neonatal phosphorylase deficiency GSD type III: Debrancher deficiency Disorders of lipid metabolism Carnitine deficiency syndromes Peroxisomal disorders Neonatal adrenoleukodystrophy Cerebrohepatorenal (Zellweger) syndrome Disorders of creatine metabolism Mitochondrial myopathies Cytochrome-c oxidase deficiency

Abbreviations: CMT, Charcot-Marie-Tooth; CNS, central nervous system; GSD, glycogen storage disease; HMSN, hereditary motor and sensory neuropathy; HSAN, hereditary sensory and autonomic neuropathy.

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Diagnostic Considerations

•• To differentiate SMA from other neuromuscular conditions, the first diagnostic

testing should be to search for a homozygous deletion of the SMN1 gene (approximately 95% sensitivity; 100% specificity). All other patients will have a single SMN1 gene deletion with a frameshift, nonsense, or missense mutation in the other SMN1 gene. •• Obtaining the SMN2 gene copy number should follow since it often correlates with symptom severity. •• If initial genetic testing is negative, further investigations include electromyography (EMG) and nerve conduction velocity (NCV) studies. A muscle biopsy is no longer required. ——EMG, more often used in milder cases of SMA, shows variable features of motor neuron/motor axon loss consistent with a loss of motor neuron function. ——NCV studies usually demonstrate chronic motor axonal loss. Reduced compound motor action potential amplitudes with preserved conduction velocities are noted, and amplitudes correlate with clinical severity; sensory nerve action potential is usually normal.

Treatment

•• Care is best provided by a multidisciplinary team including pediatricians,

orthopaedic surgeons, respirologists, gastroenterology/nutritional experts, rehabilitation specialists, nurses, orthotists, and other allied health professionals. •• Primary care physicians play a significant role in educating families and in the early detection and management of medical complications (ie, pressure sores, intercurrent infections, feeding problems and failure to thrive [SMA 1] or obesity [SMA 2, 3] with or without metabolic syndrome, constipation, gastroesophageal reflux and aspiration, sleep-related hypoventilation, respiratory insufficiency). •• All symptomatic patients with SMA 1 or 2 require noninvasive positive pressure ventilation. •• Health care professionals play a key role in the provision of influenza and pneumococcal vaccines and the medications and/or supplements required. •• Disease-modifying therapies have been recently developed to modulate the 2 SMN genes. ——Nusinersen (Spinarza; Biogen, Cambridge, MA) is an antisense drug created to alter the splicing of SMN 2 pre-mRNA, which enhances the translation of fully functional SMN 2-encoded protein. It is delivered intrathecally and was approved by the US Food and Drug Administration to treat SMA in 2016. „„While short-term improvements have been noted in motor function, the effect on respiration is not as profound. „„The feasibility of treating all SMA subtypes may be limited based on cost, which approaches $750,000 per patient in the first year alone. ——Small-molecule SMN 2 splice modifiers using oral delivery are currently under study.



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•• Exercise may be an important adjunct to the treatment of intermediate to mild

forms of SMA. Exercise can improve function, balance, strength, and endurance and encourage participation in activities. ——Children with significant limb weakness are more likely to avoid strenuous exercise, leading to lower levels of cardiorespiratory fitness. ——Walking, swimming, cycling, aquatic therapy, horseback riding, rowing, and adaptive sports for at least 30 minutes per day, 2 to 3 times a week should be encouraged. This is meant to improve joint range of motion, maintain stamina and fitness, and reduce weight gain.

SCOLIOSIS AND PELVIC TILT

•• Spinal bracing does not prevent scoliosis progression or halt worsening of

respiratory insufficiency. Bracing can be tried in skeletally immature patients with curves greater than 15 to 20 degrees to stabilize the sitting position, provided there is no compromise of pulmonary function. •• Surgical intervention may reduce the curvature by an average of 39 degrees (44% correction rate), but it is challenging since scoliotic curves can be severe at a young age, and, with residual growth potential, curve progression can occur. ——Patients benefit from a slower decline in pulmonary function, improved sitting comfort and balance, greater spine stability, superior sitting height, less back pain, greater ease of nursing and transport care, and a better quality of life. ——Considering the decline in pulmonary function as the spinal deformity progresses, a limited window of opportunity exists in which surgical management can be safely performed. ——Surgery is reserved for nonambulatory children at least 4 years of age with SMA type 2 or 3 who have progressive curves measuring greater than or equal to 50 degrees and a rate of scoliosis progression greater than or equal to 10 degrees per year. ——Other factors that influence surgery include decreasing respiratory function, rib deformity, hyperkyphosis, pelvic obliquity, and trunk imbalance. ——The surgical options are posterior spinal fusion extending to the pelvis or growing rods. Choice of surgery depends on age and severity of the scoliosis. „„Posterior fusion using dual rod multisegmental constructs are advisable for nonambulatory patients age 12 years or older with a large degree (> 15°) of pelvic tilt. Extension of surgical correction to the pelvis depends on whether the pelvis is part of the scoliotic curve. „„Younger children require growth-friendly instrumentation that allows continued trunk and lung growth while controlling spinal curvature and pelvic tilt. This can prolong the life span in some children, especially those who have been treated with gene therapy. HIP DISLOCATION OR SUBLUXATION

•• High rates of hip dislocation or subluxation occur in patients with SMA, and many are painful.

•• Surgical reduction and osteotomy are often unsuccessful and followed by

redislocation; surgical intervention may expose patients to undue operative risks

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for minimal functional gain. However, for those who have received gene therapy, surgical intervention for hip dislocation can result in more functional gain. •• Surgery is indicated for symptomatic hip dislocations. Options include undertaking a valgus osteotomy to displace the femoral head away from the painful acetabulum or even femoral head resection. JOINT CONTRACTURES

•• Contractures are common in patients with SMA because of decreased joint range of motion, muscle imbalance, and prolonged static positioning. They can be painful and inhibit function. •• Physical therapy includes range of motion exercises and regular passive and active-assistive stretching to preserve flexibility. •• Adaptive equipment, serial casting, and splinting should be instituted early to improve standing and maintain physical function. •• Lightweight, long-leg braces and crutches may prolong walking. •• Painful contractures that impair function may require soft tissue operations to release tight structures. FOOT DEFORMITIES

•• Ankle-foot orthoses may slow progression of deformity; surgical repair may be required.

Expected Outcomes/Prognosis

•• Patients with SMA type 1 never sit independently and generally die of respiratory failure before 2 to 4 years of age. A new phenotype, “treated SMA type 1,” has emerged, which may change these expected long-term outcomes. •• Patients with SMA type 2 sit independently; some with milder forms stand and walk with bracing. Ninety-five percent are alive at 25 years. •• Patients with SMA types 3 and 4 stand and walk and have a normal life span.

When to Refer

•• Refer suspected cases of SMA to a neurologist for EMG, NCV studies, and genetic testing.

•• Early referral to pediatric orthopaedic specialist for monitoring of hips and spine. •• Confirmed cases are best managed by a multidisciplinary team.

CHAPTER 66

Friedreich Ataxia Introduction/Etiology/Epidemiology

•• Friedreich ataxia (FRDA) is the most prevalent hereditary ataxia, with a

prevalence ranging from 1 in 20,000 to 1 in 725,000 live births. It is most common in Western European populations. It is rarely reported in China, Japan, and the sub-Sahara region of Africa. •• This is a severe autosomal recessive disease of the central and peripheral nervous system. •• It is caused by mutations of the frataxin gene, FXN, on chromosome 9q13. About 96% of cases have 600 to 1,200 guanine-adenine-adenine (GAA) trinucleotide repeat expansions in the first intron of both alleles. This mutation results in reduced production of frataxin, a mitochondrial membrane protein important in iron-sulfur cluster biogenesis, storage, and transport. •• Longer lengths of GAA expansion result in lower frataxin production, earlier disease onset, and more severe symptoms, including loss of upper extremity deep tendon reflexes (DTR), a shorter time to loss of ambulation, and cardiomyopathy. •• Low levels of frataxin lead to intracellular oxidative stress and, ultimately, cell death resulting in damage to the brain, heart, and pancreas. •• Structural pathology of the central nervous system is most apparent in the spinal tracts and cerebellum. ——The dorsal root ganglia demonstrate hypoplasia of large and intermediate size neurons. ——Degeneration of the posterior (dorsal) columns of the spinal cord and the dorsal spinocerebellar fibers are typical. ——There is atrophy of the neurons in Clarke column and the gracile and cuneate nuclei. ——The main cerebellar abnormality is atrophy of the dentate nucleus and its efferent axons. ——Reduced cerebellar white and gray matter volume is associated with greater disease severity. ——Cerebral gray and white matter structural and functional aberrations have also been reported. •• The peripheral nervous system is affected, with loss of myelinated sensory nerves and secondary axonal degeneration, which progresses with age. This is most severe in the lower extremities. •• Pathology in the autonomic nervous system has also been described, which correlates with disease severity. Dysautonomia affects the gastrointestinal and genitourinary systems as well as thermoregulation and light sensitivity. 645

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Signs and Symptoms

•• Clinical manifestations usually begin between 10 and 15 years of age but may start as early as 2 years.

•• Progressive trunk and limb ataxia is caused by cerebellar and spinocerebellar

degeneration, sensory neuropathy, and vestibular nerve pathology. These are cardinal features leading to imbalance and frequent falls. •• Limb incoordination, intention tremor, and dysmetria progress steadily until patients lose fine motor skills and the ability to walk, stand, and, eventually, sit without support 10 to 15 years after disease onset. •• Degeneration of the corticospinal tracts in the spinal cord results in a loss of DTR and a positive Babinski sign in most patients. Muscle tone is usually decreased and sometimes normal but rarely increased. •• Progressive muscular weakness is common, especially affecting the lower extremities in those with earlier disease onset. Arm and hand weakness occur in later stages. •• Impaired vibration perception and proprioception occur from degeneration of the posterior columns of the spinal cord, especially in those with earlier disease onset. The dorsal root of the spinal nerve and the peripheral sensory nerves are also affected as the disease advances, but pain and temperature sensation are typically unaffected. •• Cerebellar dysarthria (slow, jerky speech with sudden utterances) characterized by velopharyngeal and laryngeal dysfunction is present in more than 90% of patients. This often appears 5 years after disease onset. Symptoms can be mild or more severe (as seen in those with longer disease duration). •• Abnormalities of eye movement are common, typically including fixation instability with frequent square wave jerks and ocular flutter. Optic atrophy may occur in up to 30% of patients. Loss of vision is noted less frequently. •• Although reduced hearing in the setting of background noise is common, sensorineural hearing loss affects only about 20% of patients with advanced disease. •• Autonomic nervous system dysfunction occurs later, causing cold and cyanotic legs and feet as well as reduced heart rate variability. •• The urinary system is affected in 40% of patients. Urinary retention, hesitance, and incontinence are typical features. This occurs in more severely affected individuals. •• Hypertrophic cardiomyopathy occurs in more than 90% of patients about 4 to 5 years after the onset of neurologic symptoms. It is the leading cause of death in FRDA, occurring in about 60% of patients. ——Typically, left ventricular hypertrophy develops, which progresses to myocardial fibrosis and, later, to ventricular thinning. ——Arrhythmias are common and can result in sudden death. ——Reduced systolic ejection fraction occurs in 20% of patients late in the disease; 30% die from end-stage congestive heart failure by 30 years of age. ——There is no effective treatment, although cardiac transplantation has shown promise. •• Sleep-disordered breathing may lead to daytime fatigue. This must be screened for when assessing patients with FRDA.



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•• Kyphoscoliosis is very common and can precede neurologic symptoms. Double

major thoracic and lumbar curves are the predominant pattern. Scoliosis may cause back pain and cardiorespiratory compromise. •• Pes cavus is noted in 55% to 75% of patients but rarely causes problems. Pes equinovarus is also common and can cause morbidity. These foot deformities and hammer toes make ambulation more difficult. •• Carbohydrate intolerance is noted in about 20% of patients. This may relate to a combination of insulin resistance, decreased insulin secretion from pancreatic β-cell dysfunction, and mitochondrial dysfunction. •• Cognitive dysfunction has more recently been demonstrated. Patients have poor capacity in concept formation and visuospatial reasoning with a slower speed of information processing. They have impaired cognitive control of ocular movement and difficulty initiating movement without direct visual cues. Attention deficits and lower working memory have also been reported.

Differential Diagnosis: Chronic Pediatric Ataxias

•• Congenital anomaly of posterior fossa: Dandy-Walker syndrome; Arnold-Chiari

malformation; encephalocele; cerebellar vermis agenesis; cerebellar aplasia/ dysplasia/hypoplasia •• Major hereditary ataxias ——Autosomal recessive: ataxia with vitamin E deficiency; ataxia-telangiectasia; ataxia with oculomotor apraxia types 1 and 2; spastic ataxia of CharlevoixSaguenay; ataxia with coenzyme Q10 deficiency; mitochondrial DNA depletion syndrome 7 (infantile-onset spinocerebellar ataxia); MarinescoSjögren syndrome; epilepsy, ataxia, sensorineural deafness, and salt-wasting renal tubulopathy (EAST) syndrome, alternatively known as seizures, sensorineural deafness, ataxia, intellectual (mental) disability, and electrolyte imbalance (SeSAME) syndrome. ——Autosomal dominant: spinocerebellar ataxias (SCA 1–40); Roussy-Lévy variant of Charcot-Marie-Tooth disease; dentatorubral-pallidoluysian atrophy. ——X-linked spinocerebellar ataxia: fragile X syndrome with tremor/ataxia syndrome—mutations in FMR1 gene. •• Metabolic ——Lysosomal storage disorders (eg, Niemann-Pick type C, juvenile Tay-Sachs disease, sialidosis, GM2 gangliosidosis, Sandhoff disease, neuronal ceroid lipofuscinosis) ——Abetalipoprotinemia (Bassen-Kornzweig syndrome) ——Aminoacidurias (eg, maple syrup urine disease, Hartnup disease) ——Mitochondrial (eg, pyruvate dehydrogenase deficiency, Leigh syndrome, sensory ataxic neuropathy with dysarthria and ophthalmoplegia [SANDO], cerebrotendinous xanthomatosis) ——Biotinidase deficiency ——Refsum syndrome ——Wilson disease ——Lesch-Nyhan syndrome •• Leukodystrophy: adrenoleukodystrophy; metachromatic leukodystrophy; Pelizaeus-Merzbacher disease

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•• Cerebral tumors (eg, medulloblastoma, cerebellar astrocytoma, brainstem glioma, ependymoma)

•• Other: dyssynergia cerebellaris myoclonica (Ramsay Hunt syndrome type 1); multiple sclerosis

Diagnostic Considerations

•• Laboratory testing ——Genetic testing establishes the definitive diagnosis. Ninety-five percent of

patients with FRDA have an expanded GAA trinucleotide repeat in both alleles of the FXN gene. Five percent have a point mutation in the FXN gene on one allele and an expanded GAA repeat on the other allele. ——Blood or buccal smear testing for frataxin levels can also be used to identify patients with FRDA, especially in rare cases in which genetic testing is negative for a pathogenic mutation. ——When the diagnosis is uncertain, vitamin E levels and other investigations to determine an underlying inborn error of metabolism are warranted. Results of these tests are all normal in FRDA. •• Neuroimaging of the brain and spinal cord is generally performed to rule out other causes of ataxia such as structural abnormalities and tumors. ——Thinning of the cervical spinal cord from degeneration of the posterior and lateral columns is the most common abnormality in patients with FRDA. ——Cerebellar atrophy may suggest an alternative hereditary ataxia but may also be noted in severe and advanced cases of FRDA. •• Electrocardiogram commonly shows repolarization abnormalities, atrioventricular arrhythmias, ischemic changes, and ventricular hypertrophy. •• Echocardiogram findings are abnormal in about 70% of patients, with homogenous left-side ventricular hypertrophy seen in mild cases and asymmetrical septal hypertrophy and a dilated left-side ventricle noted in severely affected patients. •• Currently, electrodiagnostic testing (nerve conduction, electromyography) is seldom used to diagnose FRDA.

Treatment

•• Primary care physicians and pediatricians play a significant role in FRDA

management. ——Regular neurologic examinations should guide timely referrals to appropriate specialists. „„Assessment for spasticity, pain, and spasms as well as incipient or established joint contractures is important. „„Spasticity should be treated early using nonpharmacologic methods. If unsuccessful, medications such as baclofen or gabapentin may be considered. Treatment of spasticity can unmask weakness and cause deterioration in gait. „„Neuropathic pain may be treated with medications such as gabapentin or amitriptyline.



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with mobility, balance, core stability, trunk control, spasticity, foot position, and strength should be treated by a qualified physical therapist. Stretching and aquatic therapy may be implemented to prolong ambulation and reduce the number of falls. A heavy or weighted gait aid may prolong the capacity to walk. „„Comprehensive communication evaluation by a speech and language pathologist at disease onset is key to treating dysarthria. A speech and language pathologist can also assess swallowing, adjust posture, and engage patients in systematic behavior therapy to treat dysphagia. „„Ophthalmologic assessment should occur at baseline and every 2 years. Drugs such as memantine, acetazolamide, gabapentin, and ondansetron may reduce square wave jerks and ocular flutter. „„Audiologic testing should occur at baseline and every 2 years. FM listening devices fitted by an audiologist may improve day-to-day listening and general communication. Conventional hearing aids and cochlear implants may not improve hearing. „„If bladder dysfunction is suspected, urodynamic tests are warranted. Exclusion of a concomitant urinary tract infection and assessment of postmicturition residual urine is advisable prior to commencement of treatment. Antimuscarinic medications may be considered for overactive bladder symptoms. „„Bowel dysfunction may require diet and lifestyle modifications to avoid fecal incontinence. Laxatives may be needed to optimize gut transit and stool consistency and avoid fecal impaction. ——Yearly cardiac evaluations are required for asymptomatic patients to screen for arrhythmia and cardiomyopathy. Clinical assessment, electrocardiogram, and echocardiography with or without magnetic resonance imaging may be needed. Those with symptomatic heart failure with reduced left ventricle ejection fraction should be treated with diuretics and an angiotensin-converting enzyme inhibitor with consideration for a β-blocker if the heart rate is above 75 beats per minute. Calcium channel blockers with negative inotropic effects should be avoided. ——An annual clinical evaluation for obstructive sleep apnea (OSA) should occur, especially later in the disease. If suspected, polysomnography is performed to confirm the diagnosis of OSA. Treatment with nasal continuous positive airway pressure therapy should be considered. ——Yearly screening for diabetes is required. Blood glucose should be measured at least once a year, but oral glucose tolerance testing may detect diabetes earlier. Treatment focuses on diet and exercise; insulin therapy should follow if adequate glucose control is not achieved. ——Scoliosis screening should be performed annually. A spinal curve between 20 degrees and 40 degrees, especially during adolescence, should be monitored for curve progression. Bracing may not reduce curve progression but may delay surgery in the young child. •• A team of medical specialists should be consulted to provide ongoing multidisciplinary care. These include neurologists, cardiologists, endocrinologists, and psychologists. Genetic counseling should also be available.

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•• Rehabilitation professionals such as physical and occupational therapists are

essential. ——Physical therapy can address joint range of motion and function, balance, accuracy of limb movements, flexibility, and maintenance of strength. Programs focusing on daily muscle lengthening, soft tissue extensibility exercises, and mobility training can be beneficial. ——Occupational therapy can help minimize difficulties in the performance of daily activities. Ankle-foot orthoses maintain good foot alignment for mobility while reducing the effect of spasticity. Protective footwear is important in patients with neuropathy. ——Exercise specialists should create aerobic exercise programs (eg, stationary cycling) that improve aerobic fitness, self-esteem, independence, and socialization. Cardiomyopathy is a relative contraindication to exercise. •• Surgical specialists should also be consulted when indicated. Orthopaedic surgery is often required for musculoskeletal deformities. ——Patients with scoliosis curves greater than 40 degrees should undergo posterior spinal fusion from the upper thoracic to sacral levels. All those considered for scoliosis surgery require extensive preoperative cardiac and pulmonary evaluation (Figure 66-1). ——Severe ankle and foot malformations (eg, pes cavus, pes equinovarus, hammer toe) that are not corrected with bracing or that interfere with ambulation require surgery. Triple arthrodesis straightens and stabilizes the foot. Achilles lengthening and tibialis posterior tenotomy or transfer help reduce recurrence. NEW THERAPIES UNDER INVESTIGATION

•• Increasing frataxin production at the gene level ——Oligonucleotide-based approaches to remove entire expanded GAA groups or prevent R-loop formation adopted by these expanded GAA repeats

——Histone deacetylase inhibitors that silence the expanded FXN gene show promise

——Synthetic transcription factors (eg, synthetic transcription elongation factor 1 [Syn-TEF1]) may be used to enhance transcription through the FXN locus.

——Erythropoietin mimetics regulate FXN expression and have neuroprotective and neurotrophic properties.

•• Frataxin replacement by gene therapy ——Adeno-associated virus carrying human FXN can be administered before and after the development of cardiac or neurologic dysfunction.

——Synthetic lipid nanoparticles act as a virus-free system to deliver FXN mRNA.

•• Therapies targeting impaired mitochondrial function and increased oxidative stress ——Omaveloxolone (RTA 408) downregulates transcription factor NF-E2 (ie, nuclear factor, erythroid 2); studies are ongoing.

——Acetyl-l-carnitine (antioxidant) may or may not improve neurologic function. ——Deuterated polyunsaturated fatty acid counteracts downstream effects of oxidative stress and may provide cardiopulmonary benefits.

——EPI-743 (antioxidant) appears to modify mitochondrial disease progression.



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Figure 66-1. Preoperative (A) and postoperative (B) spinal views showing the differences in spinal alignment and severe pelvic obliquity in a 12-year-old child with Friedreich ataxia with baclofen pump for spasticity. Courtesy of Jean Ouellet, MD, McGill Scoliosis and Spine Group.

Expected Outcomes/Prognosis

•• Gait progressively deteriorates, becoming wide based and requiring assistive devices by an average of 15 years after disease onset.

•• Currently, no known cure is available. •• Life expectancy varies. ——Severely compromised patients generally die by 30 to 40 years of age. ——Most causes of death are cardiomyopathic from arrhythmias or failure. Other causes include pneumonia and other infections.

——Early onset left-side ventricular hypertrophy appears to be associated with a

more rapid rate of disease progression, with death occurring 10 years earlier than with noncardiac causes.

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——Longer survival may occur in those with a later onset of the disease and

adequate treatment of neuromuscular complications, diabetes, and cardiac symptoms. ——A pacemaker or an implantable cardioverter-defibrillator for those with cardiac involvement may improve outcomes but requires more study.

When to Refer

•• Refer suspected cases to a neurologist for clinical assessment and genetic studies. •• Confirmed cases are best managed by a multidisciplinary team.

CHAPTER 67

Arthrogryposis Introduction/Etiology/Epidemiology

•• The term arthrogryposis is derived from the Greek, meaning “curved joint.” •• It refers to a group of more than 400 syndromes in which multiple joint

contractures are present at birth. ——The most recognizable of these syndromes is amyoplasia. ——All are associated with decreased fetal movement, which results in multiple joint contractures, which can be diagnosed on prenatal ultrasonography. ——There are numerous primary etiologies. •• The incidence of arthrogryposis is 1 in 3,000 live births. •• The incidence of amyoplasia (most common form) is 1 in 10,000 live births. •• About half of the conditions associated with arthrogryposis have a syndromic or genetic abnormality. ——Determining the cause of each patient’s arthrogryposis is important to predict risk of additional children born to the same parents being affected. ——It is also important to determine if unaffected siblings are carriers of the condition. ——Amyoplasia is thought to be nongenetic. •• When arthrogryposis is seen along with an intellectual disability, a genetic evaluation should be performed. ——Microarray ——Exome studies •• Clinical classification is based on the system or systems involved. ——Primary limb involvement (eg, amyoplasia, distal arthrogryposis) ——Musculoskeletal plus other system involvement ——Musculoskeletal plus other system dysfunction, intellectual disability, or lethality •• The overall cause of fetal akinesia may be ——Intrinsic conditions (eg, neuromuscular disease) ——Environmental conditions (ie, maternal illness or exposures) ——Extrinsic conditions (eg, lack of intrauterine space) •• The etiologic process may be neuropathic (myelin defects, myopathies), metabolic disorders, skeletal dysplasias, space limitations, maternal conditions, or intrauterine vascular compromise •• Presentations ——Amyoplasia ——Distal arthrogryposis ——Everything else (pterygium syndromes, X-linked syndromes, teratologic conditions, maternal illness, intellectual disability, fetal akinesia deformation sequence, lethal conditions) 653

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Signs and Symptoms

•• Pregnancy history typically reveals decreased fetal movements. •• Loss of skin creases across joints •• Dimples may be present over the extensor surfaces of involved joints. •• Severe muscle atrophy and a decrease in subcutaneous fat •• Joint motion is restricted, and there is a firm inelastic block with passive motion. •• The shoulders are internally rotated and adducted. •• The elbows are extended with the forearms pronated. •• The wrist and fingers are flexed. •• The fingers are thin and tapered. •• Foot deformities are present in 90% of patients. ——Clubfoot is the most common, especially in amyoplasia ——Vertical talus is also seen. •• Seventy percent have knee contractures, both flexion and extension. •• Forty percent have hip deformities including subluxation, frank dislocation, and contracture.

•• The occurrence of scoliosis in patients with amyoplasia is common.

Differential Diagnosis

•• Bilateral brachial plexus palsy •• Bony fusion ——Symphalangism (ie, fusion of phalanges) ——Coalition (ie, fusion of the carpals and tarsal bones) ——Synostosis (ie, fusion of long bones) •• Absence of dermal ridges •• Absence of distal interphalangeal joint creases •• Amniotic bands •• Antecubital webbing •• Camptodactyly •• Coalition •• Humeroradial synostosis •• Familial impaired pronation and supination of forearm •• Liebenberg syndrome •• Nail-patella syndrome •• Nievergelt-Pearlman syndrome •• Poland anomaly •• Tel Hashomer camptodactyly •• Trismus-pseudocamptodactyly syndrome

Diagnostic Considerations

•• Diagnosis is established based on history and physical examination and consultation with specialists in genetics and/or neurology as indicated.

•• Electromyograms and muscle biopsies are of little value, although these tests may help to differentiate between myopathic and neuropathic forms.



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•• Prenatal ultrasonography may suggest the diagnosis when it shows decreased or absent fetal movement in association with oligohydramnios and joint contractures.

Treatment

•• Management requires a multidisciplinary team including a pediatric neurologist,

pediatric orthopaedic surgeon, rehabilitation physician, geneticist, occupational therapist, physical therapist, and orthotist. •• The goal of treatment is to optimize function and independence. •• In the lower extremities, the goal is alignment and stability for ambulation. •• In the newborn, a program of early physical therapy and/or occupational therapy, as well as stretching and bracing, can be successful in improving passive range of motion. ——Careful attention to the birth process is important to make sure there are no long bone fractures before beginning a stretching program. ——Serial stretching casts, applied on a weekly basis, are initiated soon after birth. ——A percutaneous Achilles tenotomy can also be done, as in the Ponseti technique. •• Foot deformities are very difficult to correct and may require surgery (extensive posteromedial release) in addition to the Ponseti method of casting. ——The surgical correction is done at about 1 year of age. ——Because the recurrence rate is high, long-term bracing is required postoperatively. ——Talectomy is reserved for severe recurrent deformities. •• Knee contractures ——Mild knee flexion contractures of less than 20 degrees are compatible with good function. ——Severe contractures can limit the ability to stand and walk. ——Early treatment consists of stretching and holding splints. ——In the newborn period, stretching the quadriceps and serial casting may be beneficial. ——For more severe contractures, quadricepsplasty can be performed (lengthening of the quadriceps tendon, with a capsular release). •• Hip deformities ——Closed reduction is rarely successful. ——Open reduction, if required, is performed at about 1 year of age. •• Upper extremity contractures ——Limbs are positioned with orthotic devices at tabletop level so that children can feed themselves. ——Early splinting may prevent deformities. ——Shoulder contractures can be treated with proximal humeral osteotomy. ——Children usually develop compensatory movements to allow self-care, but selective upper extremity surgery can improve passive hand to mouth positioning. •• Scoliosis ——Treatment depends on the curve type and magnitude and may include observation, bracing, or surgical correction.

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Expected Outcomes/Prognosis

•• Long-standing contractures may lead to undergrowth of limbs. •• Prognosis depends on the underlying condition and the patient’s response to treatment. •• Children with amyoplasia have normal intelligence and good prognosis for function and independence. •• Neonates who are ventilator dependent typically have a poor prognosis.

When to Refer

•• Patients with arthrogryposis should be referred to a geneticist for diagnosis and a pediatric orthopaedic surgeon for management soon after diagnosis.

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Noble-Jamieson CM, Heckmatt JZ, Dubowitz V, Silverman M. Effects of posture and spinal bracing on respiratory function in neuromuscular disease. Arch Dis Child. 1986;61(2):178–181 Palau F, Espinós C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis. 2006;1:47 Pandolfo M. Friedreich ataxia. Handb Clin Neurol. 2012;103:275–294 Pandolfo M. Friedreich ataxia. Semin Pediatr Neurol. 2003;10(3):163–172 Pareyson D. Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Neurol Sci. 2004;25(2):72–82 Patel J, Shapiro F. Simultaneous progression patterns of scoliosis, pelvic obliquity, and hip subluxation/dislocation in non-ambulatory neuromuscular patients: an approach to deformity documentation. J Child Orthop. 2015;9(5):345–356 Pavone P, Praticò AD, Pavone V, et al. Ataxia in children: early recognition and clinical evaluation. Ital J Pediatr. 2017;43(1):6 Puccio H, Koenig M. Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet. 2000;9(6):887–892 Reetz K, Dogan I, Hohenfeld C, et al; EFACTS Study Group. Nonataxia symptoms in Friedreich ataxia: report from the Registry of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). Neurology. 2018;91(10):e917–e930 Rice SG; American Academy of Pediatrics Council on Sports Medicine and Fitness. Medical conditions affecting sports participation. Pediatrics. 2008;121(4):841–848 Rodillo E, Marini ML, Heckmatt JZ, Dubowitz V. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol. 1989;4(2):118–123 Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003;51(5):261–283 Sarwark JF, MacEwen GD, Scott CI Jr. Amyoplasia (a common form of arthrogryposis). J Bone Joint Surg Am. 1990;72(3):465–469 Schöls L, Meyer Ch, Schmid G, Wilhelms I, Przuntek H. Therapeutic strategies in Friedreich’s ataxia. J Neural Transm Suppl. 2004;(68):135–145 Selvadurai LP, Harding IH, Corben LA, Georgiou-Karistianis N. Cerebral abnormalities in Friedreich ataxia: a review. Neurosci Biobehav Rev. 2018;84:394–406 Shy ME. Charcot-Marie-Tooth disease: an update. Curr Opin Neurol. 2004;17(5):579–585 Silva AC, Russo AK, Piçarro IC, et al. Cardiorespiratory responses to exercise in patients with spinal muscular atrophy and limb-girdle dystrophy. Braz J Med Biol Res. 1987;20(5):565–568 Sporer SM, Smith BG. Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23(1):10–14 Strober JB. Therapeutics in Duchenne muscular dystrophy. NeuroRx. 2006;3(2):225–234 Vai S, Bianchi ML, Moroni I, et al. Bone and spinal muscular atrophy. Bone. 2015;79:116–120 Wadman RI, van der Pol WL, Bosboom WM, et al. Drug treatment for spinal muscular atrophy types II and III. Cochrane Database Syst Rev. 2020;CD006282 Wang CH, Finkel RS, Bertini ES, et al; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–1049 Wang HY, Ju YH, Chen SM, Lo SK, Jong YJ. Joint range of motion limitations in children and young adults with spinal muscular atrophy. Arch Phys Med Rehabil. 2004;85(10):1689–1693

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Weidemann F, Rummey C, Bijnens B, et al; Mitochondrial Protection with Idebenone in Cardiac or Neurological Outcome (MICONOS) study group. The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms. Circulation. 2012;125(13):1626–1634 Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology. 2006;67(3):500–501 Wijngaarde CA, Brink RC, de Kort FAS, et al. Natural course of scoliosis and lifetime risk of scoliosis surgery in spinal muscular atrophy. Neurology. 2019;93(2):e149–e158 Zenios M, Sampath J, Cole C, Khan T, Galasko CS. Operative treatment for hip subluxation in spinal muscular atrophy. J Bone Joint Surg Br. 2005;87(11):1541–1544 Zhang S, Napierala M, Napierala JS. Therapeutic prospects for Friedreich’s ataxia. Trends Pharmacol Sci. 2019;40(4):229–233 Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol. 2006;2(1):45–53 Zumrová A. Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia. Neuro Endocrinol Lett. 2005;26(2):98–108

Part 18: Genetic Diseases and Syndromes With Musculoskeletal Manifestations TOPICS COVERED 68. Skeletal Dysplasias ................................................................. Osteogenesis Imperfecta 69. Metabolic Bone Diseases ......................................................... Rickets 70. Neurofibromatosis 1 ............................................................... 71. Hemophilia ........................................................................... 72. Achondroplasia ...................................................................... 73. Down Syndrome ....................................................................

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CHAPTER 68

Skeletal Dysplasias Introduction/Etiology/Epidemiology

•• Skeletal dysplasias (osteochondrodysplasias) are characterized by abnormal

cartilage and bone growth, resulting in abnormal shape and disproportionate size of limbs, trunk, or skull. •• There are more than 400 different clinically identifiable skeletal dysplasias. They are classified based on their clinical, radiographic, and/or molecular phenotypes. ——The 4 most common are achondroplasia (dwarfism) (see Chapter 72, Achondroplasia), achondrogenesis, osteogenesis imperfecta (OI), and thanatophoric dysplasia. •• Incidence is approximately 1 in 4,000 live births. •• Etiology generally falls into 1 of 3 categories. ——Defects in developmental genes ——Abnormalities of matrix structural proteins ——Defects in enzymes that process protein •• Modes of inheritance include autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. •• Males and females are equally affected except for X-linked conditions. •• Many skeletal dysplasias involve multiple, seemingly unrelated defects all arising from a single gene abnormality. ——For example, chondroectodermal dysplasia, which is recessively inherited, is characterized by 6 fingers, fine hair, cardiac abnormalities, immune deficiencies, and angular deformity of the lower limbs, with extreme genu valgum developing over time. •• Some skeletal dysplasias are also associated with abnormalities in other systems (eg, cardiac, neurologic, metabolic, hematologic).

Signs and Symptoms

•• Signs of a skeletal dysplasia are often identified at birth or when the child begins to walk or demonstrates developmental abnormalities.

•• Signs and symptoms will vary depending on the specific syndrome; however, there are many common features of skeletal dysplasias (Box 68-1).

•• Skeletal dysplasias are classified in part based on the areas of the long bones that manifest radiographic abnormalities (Figure 68-1).

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Box 68-1. Features Common to Most Skeletal Dysplasias • Short stature (below third percentile) • Disproportionate limb and body size (relatively short trunk or limbs) • Abnormal facial characteristics • Deformities of the head, neck, hands, and feet (eg, polydactyly, craniosynostosis, disproportionately large head, clubfoot, radial ray defects) • Hip dysplasia • Angular deformity of the limbs • Spinal abnormalities, such as kyphosis and atlantoaxial instability • Gait disturbances • Developmental delay • Family members with atypical appearance or similar features to affected child

Figure 68-1. Illustration demonstrating the different portions of the appendicular skeleton that manifest radiographic abnormalities that aid in the clinical classification of the skeletal dysplasias. From Krakow D, Rimoin DL. The skeletal dysplasias. Genetics in Medicine. 2010;12:327–341. © 2010, reprinted by permission from Springer Nature.

Differential Diagnosis

•• Chromosomal disorders, such as trisomy 18 or 21 •• Endocrine disorders, such as growth hormone deficiency, Shwachman syndrome, and hyperparathyroidism

•• Rickets •• Syndromes associated with diffuse bony lesions, such as Ollier or Maffucci

syndrome (multiple enchondromatosis) and McCune-Albright syndrome (fibrous dysplasia with endocrine abnormality) •• Inborn errors of metabolism, such as cystinosis



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•• Intrauterine growth retardation, constitutional growth delay, or growth failure •• Severe malnutrition •• Child abuse and neglect •• Failure to thrive •• Apert syndrome •• Cornelia de Lange syndrome •• Crouzon syndrome •• DiGeorge syndrome •• Fanconi syndrome •• Cystic fibrosis •• Cytomegalovirus infection •• Perthes disease (bilateral cases)

Diagnostic Considerations

•• Most skeletal dysplasias are diagnosed based on the history, physical examination

(Figure 68-2), and radiographic findings (Box 68-2). ——When a skeletal dysplasia is suspected, a skeletal survey is performed, including the following radiographic views: „„Anteroposterior (AP) and lateral skull Figure 68-2. Skeletal dysplasia. Note short stature, disproportionate limb and body size, and angular limb deformities. From Beals RK, Horton W. Skeletal dysplasias: an approach to diagnosis. J Am Acad Orthop Surg. 1995;3(3):174–181. Reproduced with permission.

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Box 68-2. Examples of Radiographic Findings in Skeletal Dysplasia • Delayed ossification • Dumbbell-shaped long bones (Kniest dysplasia and metatrophic dysplasia) • Bowing of limbs (camptomelic dysplasia, osteogenesis imperfecta [OI] syndromes, thanatophoric dysplasia) • Metaphyseal flaring and cupping at the ends of the rib and long bones (achondroplasia, metaphyseal dysplasias, asphyxiating thoracic dysplasia, chondroectodermal dysplasia) • Long bone fractures (OI syndromes, hypophosphatasia, osteopetrosis, achondrogenesis type I) • Irregular formation of epiphyseal ossification centers (spondyloepiphyseal dysplasia [SED] congenita, multiple epiphyseal dysplasia, other SED) • Cone-shaped epiphyses (acrodysostosis, cleidocranial dysplasia, trichorhinophalangeal dysplasia) • Stippling of the epiphyses (multiple epiphyseal dysplasia, SED, chondrodysplasia punctata, cerebrohepatorenal syndromes, lysosomal storage diseases, Smith-Lemli-Opitz syndrome) • Rib shortening (short-rib polydactyly syndromes, asphyxiating thoracic dysplasia, chondroectodermal dysplasia, metaphyseal dysplasia, metatrophic dysplasia) • Uncalcified vertebral bodies (achondrogenesis types I and II) • Small sacrosciatic notch (achondroplasia, Ellis-van Creveld syndrome, metatrophic dysplasia, thanatophoric dysplasia, Jeune syndrome) • Kyphosis/scoliosis (achondroplasia) • Scapular hypoplasia (camptomelic dysplasia, Antley-Bixler syndrome) „„AP

and lateral thoracolumbar spine pelvis „„AP of one upper limb, including the hand „„AP of one lower limb ——Family history is a key component in establishing the diagnosis and mode of inheritance. •• Prenatal ultrasonography may diagnose many types of skeletal dysplasias. •• Most skeletal dysplasias now have confirmatory genetic testing. •• It is helpful to obtain laboratory studies to rule out treatable conditions that can mimic skeletal dysplasia. These include 25-hydroxyvitamin D, calcium, parathyroid hormone, phosphate, alkaline phosphatase, thyroid-stimulating hormone, growth hormone, and creatinine, as well as urinary calcium, phosphate, and creatinine. •• Online Mendelian Inheritance in Man is a useful website for identifying and correlating a diagnosis (https://omim.org/) „„AP

Treatment

•• Treatment is generally supportive. The goal is to promote health, function, and development, to prevent neurologic and orthopaedic complications from long bone deformities, spinal cord compression, and joint instability. •• Obesity may worsen some deformities or further reduce function; patients and families should be counseled about weight management strategies.



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•• Mild to moderate scoliosis and kyphosis may be treated with bracing, while more severe forms will often require surgical fusion.

•• Orthopaedic surgery with growth modulation or acute bony correction (osteotomy) is often required for lower extremity angular deformities.

•• Bone-lengthening surgery may be considered after careful consideration of goals and physical, emotional, and financial burdens of surgery.

•• Some skeletal dysplasias have pharmacotherapy treatment options, such as

enzyme replacement therapy for Morquio syndrome or C-type natriuretic peptide for achondroplasia (in clinical trials).

Expected Outcomes/Prognosis

•• Lethal dysplasias ——For infants with skeletal dysplasias identified at birth, approximately 13% are stillborn and 44% die in the perinatal period.

——Lethal dysplasias: achondrogenesis, homozygous achondroplasia,

chondrodysplasia punctata (recessive form), camptomelic dysplasia, congenital lethal hypophosphatasia, perinatal lethal type of OI, thanatophoric dysplasia, and short-rib polydactyly syndromes •• Nonlethal dysplasias ——Have normal or near-normal life expectancy ——The natural history and complications depend on the degree of skeletal abnormality and associated non-musculoskeletal conditions (Box 68-3).

Box 68-3. Examples of Specific Complications Seen in Skeletal Dysplasias • Respiratory — Respiratory compromise caused by small chest and lungs or severe kyphoscoliosis, or upper airway obstruction (chondrodystrophy) • Central nervous system — Hydrocephalus (achondroplasia, metatropic dysplasia) • Musculoskeletal — Atlantoaxial instability may lead to spinal cord compression or nerve damage (chondrodystrophies, such as achondroplasia, spondyloepiphyseal dysplasia [SED] congenita, and Morquio syndrome). — Adult hip and knee arthritis (multiple epiphyseal dysplasia) — Frequent fractures (osteogenesis imperfecta) • Otolaryngologic — Recurrent otitis media that may lead to progressive conductive or neurosensory deafness (diastrophic dysplasia and achondroplasia) • Ophthalmologic — Myopia increases risk for retinal detachment (Kniest dysplasia and SED congenita) • Dental — Malocclusion, crowding, and structural abnormalities (chondrodystrophies) • Nutritional — Obesity (achondroplasia)

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Box 68-3. Examples of Specific Complications Seen in Skeletal Dysplasias, continued • Other — Anesthesia complications caused by unstable cervical vertebrae or malignant hyperthermia (chondrodysplasias) — Obstetric and gynecologic complications caused by pelvic abnormalities

Prevention

•• Genetic counseling may be offered to couples with a confirmed family history of a skeletal dysplasia.

•• Prenatal diagnosis ——Ultrasonography may identify skeletal abnormalities, which in most cases is sufficient to make the diagnosis.

——Amniocentesis or chorionic villus sampling may provide a DNA diagnosis for some dysplasias.

•• When the diagnosis is known prenatally, cesarean delivery is occasionally

suggested to reduce the risk for complications due to cephalopelvic disproportion caused by a large fetal head or C1-C2 instability.

When to Refer

•• All patients with a suspected skeletal dysplasia should be referred to an

orthopaedic surgeon and a geneticist with expertise in this area in specialized centers. •• Many will also require consultation with one or more of the following specialists: ——Pediatric surgeon ——Ophthalmologist ——Otolaryngologist ——Neurologist ——Neurosurgeon ——Physical and occupational therapists

Osteogenesis Imperfecta INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• OI is a skeletal dysplasia characterized by abnormal collagen synthesis. •• Mode of inheritance can be autosomal dominant or autosomal recessive. •• Prevalence is 6 to 7 in 100,000 individuals of all racial and ethnic origins. •• OI has remarkable clinical variability, ranging from mild forms with minimal

musculoskeletal deformity, to severe forms with short stature, bowing, and frequent fractures of the upper and lower extremities (Table 68-1). ——Mild forms are caused by a reduced amount of normal collagen, while severe forms result from abnormal collagen; there is considerable heterogeneity.



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Table 68-1. Classification of Osteogenesis Imperfecta Mode of Inheritance

Type

Form

Features

I

Mild

Blue sclerae, mild prepubertal fractures, Autosomal dominant minimal or no deformities, mild short stature, DI, hearing loss

II

Perinatal lethal

Extreme bone fragility, beaded ribs, deformed limbs

New dominant mutation

III

Severe progressive

Severe bone fragility, progressively deforming bones, very short, normal sclerae, frequent fractures, triangular face, hearing loss

New dominant mutation

IV

Moderate

Heterogenous phenotype. Mild to severe bone fragility, moderately deforming, variable short stature, normal sclerae; DI is common.

Autosomal dominant or new dominant mutation

V

Moderate to severe Variable bone fragility, develop hypertrophic callus after fractures in long bones

Autosomal dominant

VI

Moderate to severe Moderate to severe skeletal defects similar to type IV with white sclera. Distinguished by unmineralized bone tissue (“fish scale”) on biopsies.

Probably autosomal recessive

VII

Moderate or severe Severe bone fragility, shortening of the humerus and femur

Autosomal recessive

VIII

Severe

Autosomal recessive

Resembles type II or III except with white sclera and severe growth deficiency

Abbreviation: DI, dentinogenesis imperfecta.

•• Genetic mutations in the collagen type 1 alpha 1 and alpha 2 chain (COL1A1/2)

genes are responsible for approximately 90% of all clinical cases of OI, and these can be divided into 4 clinical types. ——Type I: Classic nondeforming OI with blue sclera ——Type II: Perinatally lethal OI ——Type III: Progressively deforming OI ——Type IV: Common variable OI with normal sclera •• Other types (> 15) are rare and do not involve mutations in the type I collagen gene; rather, they involve mutations in genes that affect the processing of type I collagen. •• The mildest and most common form of OI is type I collagen abnormality. •• About 50% of patients with OI type I have a parent with the disease, whereas almost 100% of severe types of OI are new to the family. However, it is estimated that 16% of the time a parent carries a somatic mutation for the condition, so other siblings may be affected.

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SIGNS AND SYMPTOMS

•• The hallmark of OI is multiple and recurrent fractures after little to no trauma (Figure 68-3).

•• Physical signs and symptoms can cause significant limitations in function (Box 68-4).

•• Infants with severe forms of OI are often born with fractures. •• Bowing of the long bones can result from recurrent fractures or can occur

when the muscles and tendons are stronger than the bone during growth (Figure 68-4). •• Olecranon fracture is highly suspect for a mild form of OI. •• Spine deformities such as scoliosis and kyphosis occur commonly. ——Caused by vertebral collapse and joint laxity ——Appear during growing years but can progress after maturity ——Associated with poor sitting and standing balance, chest wall deformities, diminished lung space, and pain Figure 68-3. Osteopenia and healing fractures (arrow) in osteogenesis imperfecta. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:826. Reproduced with permission.

Box 68-4. Signs and Symptoms of Osteogenesis Imperfecta • Recurrent fractures • Decreased bone mineral density • Pain • Joint laxity • Easy bruising • Short stature • Brittle teeth • Hearing loss • Blue sclera • Muscle weakness • Spinal curvature • Triangular facies • Bowing of the long bones



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Figure 68-4. Severe limb bowing in child with osteogenesis imperfecta.

DIFFERENTIAL DIAGNOSIS

•• Child abuse syndrome •• Rickets •• Menkes syndrome •• Camptomelic dysplasia •• Achondrogenesis type I •• Congenital hypophosphatasia •• Idiopathic hyperphosphatasia •• Steroid-induced osteoporosis •• Idiopathic juvenile osteoporosis DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is based on history, physical examination, family history, and radiographs.

•• Mild cases can be difficult to diagnose. •• Routine laboratory studies are normal, which serve to rule out metabolic bone disease.

•• Prenatal diagnosis ——Ultrasonography can detect bowing, fractures, shortening, or other bone abnormalities.

——Diagnosis can be confirmed with chorionic villus sampling, fibroblast analysis, and DNA study.

•• Genetic testing ——Detects type I collagen mutations in almost 90% of individuals with OI and is 95% accurate in detecting all forms of OI

——While a positive test for type I collagen defect confirms OI, a negative result does not necessarily rule out the diagnosis.

•• Dual-energy x-ray absorptiometry ——Bone density is low in all forms of OI. ——Useful for evaluating response to treatment such as bisphosphonate.

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TREATMENT

•• Treatment includes a combination of surgical, medical, and rehabilitative

therapies. ——The goal is to optimize health, development, and function while controlling fractures. ——While ambulation is desirable, individuals with severe forms of OI may use a wheelchair for mobility and independence. •• Acute fractures ——Minimal immobilization followed by early motion is important to avoid joint stiffness, atrophy of the muscles, and further reduction in bone density. ——Minimally displaced fractures are best treated by soft dressings or splints. ——Bulky casts, which create leverage points, should be avoided. ——Displaced fractures often require internal fixation with rods. ——Physical therapy facilitates recovery and improves function. ——Orthoses may be used to protect fractures and aid in rehabilitation. •• Bisphosphonates ——For example, pamidronate, alendronate and zoledronic acid ——Shown to improve vertebral bone density, prevent fractures, improve ambulation, and improve quality of life (most consistently by decreasing pain) for those with moderate to severe OI. ——No observed detrimental effects on growth in short-term studies, but longterm effects are not yet known. •• Pain management ——Often requires a multidisciplinary group of specialists in medicine, psychology, and rehabilitation. ——Pharmacologic options: nonsteroidal anti-inflammatory drugs, topical pain relievers, narcotic medications (oral or skin patch), antidepressants, and nerve blocks ——Non-pharmacologic options: ice, heat, transcutaneous nerve stimulation, physical therapy, massage, acupuncture, acupressure, biofeedback, and hypnosis •• Surgical treatment ——Surgical fixation with intramedullary implants that allow growth is the preferred treatment if there is significant bony deformity and frequent fractures. ——Osteotomies may also be performed to correct long bone deformities. ——Posterior spine fusion may be indicated for progressive scoliotic deformities that do not respond to brace treatment. ——Limb-length deformity can be treated with a shoe lift or timely epiphysiodesis. Bone lengthening is technically possible but rarely necessary. ——Many patients with severe OI may not be surgical candidates because the expected benefits may not justify the risk of the procedure. Decisions are made on an individualized basis. EXPECTED OUTCOMES/PROGNOSIS

•• Prognosis varies greatly. •• For mild or moderate types (I, IV, V), life expectancy is not affected.



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•• For severe types (II, III), life expectancy may be shortened. ——The most severe type (II) results in stillbirth or death during infancy. ——The most frequent cause of death is respiratory failure, followed by unintentional trauma.

PREVENTION

•• It is imperative for children to stay physically active to prevent bones and muscles from becoming weaker from disuse or during immobilization.

•• Swimming and upper or lower extremity strengthening through low-impact

physical activities is encouraged to maximize functional abilities and quality of life.

WHEN TO REFER

•• Suspected cases of OI should be referred to an orthopaedic surgeon and a geneticist.

•• Acute fractures should be referred to an orthopaedic surgeon for casting, splinting, or surgery.

CHAPTER 69

Metabolic Bone Diseases Introduction

•• Metabolic bone diseases are characterized by abnormal bone mineralization and growth.

•• In the growing child, failure of bone mineralization leads to ——Growth plate widening and disorganization of the chondrocytes, with loss of the normal straight-columned orientation (eg, rickets)

——Accumulation of unmineralized osteoid in the trabecular bone of the metaphyses (osteomalacia)

•• In skeletally mature adolescents, failure of bone mineralization leads to osteomalacia without rickets.

•• Demineralized bone is less resistant to stress and may lead to long bone bowing and fracture.

Rickets INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Rickets, the most common metabolic bone disease, is a failure of bone

mineralization at the growth plate associated with a deficiency of calcium (hypocalcemic rickets) or phosphorous (hypophosphatemic rickets). •• Failure occurs during periods of rapid growth at a time when skeletal tissues require high levels of calcium and phosphate. •• Rickets is clinically apparent toward the end of the first year after birth, commonly identified because of tibial bowing and short stature. Deformities of the wrist and chest wall tend to develop later in childhood if rickets is not treated. •• It may be classified according to etiology (Table 69-1). ——Inadequate dietary intake of vitamin D, calcium, or phosphorous „„Rare in developed countries because calcium and phosphorous are found in milk and green vegetables „„A resurgence of rickets has been reported in nearly all developing countries. „„Occurs in breastfed neonates and infants because human milk is low in vitamin D „„Occurs because of atypical diets with no milk products (eg, vegetarian, lactose intolerant) ——Inadequate sunlight exposure (for skin conversion of vitamin D to an active form) „„Occurs in dark-skinned neonates and infants 675

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Table 69-1. Etiologies of Rickets Etiology of Rickets

Distinguishing Features

Increased renal excretion X-linked hypophosphatemic rickets

Do not have tetany, myopathy, rachitic rosary, or Harrison groove; rarely have enamel defects Waddling gait and smooth (rather than angular) bowing of the lower extremities Hypertension and left-side ventricular hypertrophy possible Family history of similar bony deformities Laboratory values: very low serum phosphorous, normal serum calcium, normal PTH, high alkaline phosphatase, normal calcidiol, normal or low calcitriol, high urinary phosphorus

HHRH

Hypophosphatemia is mild in some cases, without signs of bone disease Nephrocalcinosis, nephrolithiasis Family history of similar signs and symptoms Laboratory values: very low serum phosphorous, normal serum calcium, normal or low PTH, high alkaline phosphatase, normal calcidiol, high calcitriol, high urinary calcium

Renal insufficiency

Laboratory value: elevated creatinine

McCune-Albright syndrome

Café au lait spots; liver disease; hyperthyroidism; Cushing syndrome; fibrous dysplasia in long bones, ribs, and skull; precocious puberty; advanced skeletal maturity

Fanconi syndrome

Polyuria, polydipsia, dehydration, glycosuria, phosphaturia, proteinuria, hypokalemia, hyperchloremic metabolic acidosis

Diuretic medications (eg, furosemide) Renal tubular acidosis with hypercalciuria Renal tubular dysfunction (eg, cystinosis, tyrosinemia, galactosemia, fructose intolerance, Wilson disease, lead poisoning, other heavy metal poisoning) Tumors (usually a small, benign mesenchymal tumor)

Laboratory values: very low serum phosphorous, low calcitriol Imaging studies: positive MRI or indium 111 scan

Dietary Inadequate calcium intake Inadequate phosphate intake (rare; but can occur in infants on elemental formula) Inadequate vitamin D intake (deficient milk products or exclusively breastfed)



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Table 69-1. Etiologies of Rickets, continued Etiology of Rickets

Distinguishing Features

Poor absorption from GI tract Lack of sunlight exposure Defect in renal enzyme (1α-hydroxylase) that converts calcidiol to calcitriol, the active metabolite (vitamin D pseudodeficiency)

Family history of similar bony deformities

End-organ resistance to effect of calcitriol (Vitamin D–resistant rickets)

Family history of similar bony deformities

Laboratory values: low or normal serum phosphorous, low serum calcium, high PTH, very high alkaline phosphatase, normal calcidiol, very low calcitriol, low urinary calcium Laboratory values: low or normal serum phosphorous, low serum calcium, high PTH, very high alkaline phosphatase, normal calcidiol, very high calcitriol, low urinary calcium

High phytin formula (eg, soy) Antacids that contain aluminum (which binds dietary phosphates, preventing absorption) Anticonvulsants that accelerate calcidiol metabolism (eg, phenytoin, phenobarbital) Gastrectomy (total or partial) Short gut syndrome Hepatic insufficiency or disease

Laboratory value: elevated liver enzymes

Fat malabsorption (eg, cystic fibrosis, celiac or inflammatory bowel disease)

Steatorrhea

Chronic pancreatic insufficiency

Steatorrhea

Local effects on bone matrix Hypophosphatasia (alkaline phosphatase deficiency)

Laboratory values: low alkaline phosphatase and PTH

Abbreviations: GI, gastrointestinal; HHRH, hereditary hypophosphatemic rickets with hypercalciuria; MRI, magnetic resonance imaging; PTH, parathyroid hormone. Adapted from Bergstrom WH. Twenty ways to get rickets in the 1990s. Contemp Pediatr. 1991;8:88–106. Copyright © Advanstar Communications. Reproduced with permission.

„„Occurs

in neonates and infants in northern climates with little sunlight or who stay indoors „„Occurs in populations whose cultural practices require coverage of most parts of the body while out of the home. ——Because of medical conditions that interfere with either absorption, conversion, or activation of vitamin D or homeostasis of calcium or phosphorous SIGNS AND SYMPTOMS

•• The most common initial presenting signs are bowed legs and short stature. •• Bone pain or tenderness

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•• Skeletal deformities ——Genu varum or valgum ——Rachitic rosary (enlargement of the costochondral junctions) ——Thickening of the wrists and ankles (rounded knobs) ——Pigeon breast deformity of sternum (pectus carinatum) ——Harrison sulcus (a horizontal grooved depression) along the lower border of the chest

——Delayed closure of the fontanelles ——Craniotabes (skull bone softening that produces a ping-pong ball sensation on palpation over the occiput or posterior parietal bones)

——Caput quadratum (boxlike appearance of the head) from frontal and parietal bossing

——Stress fractures can occur in the long bones ——Pelvic or spinal deformities (eg, scoliosis, kyphosis) (least common skeletal manifestation)

•• Muscle abnormalities ——Decreased muscle tone ——Muscle cramps ——Achy musculoskeletal pain •• Poor growth velocity •• Delayed achievement of motor milestones •• Seizures •• Dental abnormalities ——Delayed dentition ——Enamel defects ——Extensive caries and dental abscesses •• Tendency to acquire infections (because of impaired phagocytosis and neutrophil motility)

DIFFERENTIAL DIAGNOSIS

•• Other metabolic diseases and epiphyseal lesions (Table 69-2) Table 69-2. Distinguishing Features of Metabolic Bone Diseases and Epiphyseal Lesions Metabolic Bone Disease or Epiphyseal Lesion

Distinguishing Features

Scurvy

Decreased density and thinned cortices Increased density near growth plate

Chondrodystrophy

Flared and widened metaphyses V- or U-shaped growth plates Short limbs

Multiple epiphyseal dysplasia

Fragmented knee and hip epiphyses Genu valgum



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Table 69-2. Distinguishing Features of Metabolic Bone Diseases and Epiphyseal Lesions, continued Metabolic Bone Disease or Epiphyseal Lesion

Distinguishing Features

Cytomegalovirus or rubella

Linear lucencies in the long bones Increased densities in metaphyses

Syphilis (rare)

Destructive lesions in long bone metaphyses Increased density of secondary ossification centers

Copper deficiency (rare)

Osteopenia Sickle-shaped metaphyseal spurs

DIAGNOSTIC CONSIDERATIONS

•• Radiographs and laboratory tests can help establish the diagnosis. •• Radiographs ——Radiographic findings do not appear until after several months of vitamin D deficiency.

——Radiographic evidence of demineralization first appears at the ends of long bones, and eventually the shafts.

——Radiographic views to perform „„Neonates

and infants: anteroposterior view of the knees; consider distal ulnar radiographs „„Older children: weight-bearing knee radiographs will show bowing. ——Typical findings (Figures 69-1 and 69-2) „„Physes are widened with exaggerated concavity (cupping) and irregular calcification. „„Along the shaft, the uncalcified osteoid causes the periosteum to appear separated from the diaphysis, although this can be difficult to see on most radiographs. „„Generalized osteomalacia (observed as osteopenia) with visible coarsening of the trabeculae (as contrasted with the ground-glass osteopenia of scurvy). This also can be difficult to see on radiographs unless severe. •• Advanced imaging ——In cases of suspected tumor-induced osteomalacia, total body magnetic resonance imaging or scintigraphy using octreotide labeled with indium 111 may be required to locate the occult tumor. •• Laboratory tests ——Serum calcium; phosphate; alkaline phosphatase; parathyroid hormone; 25-hydroxyvitamin D3 (calcidiol); 1,25-dihydroxyvitamin D3 (calcitriol); urine phosphorus ——Serum creatinine and blood urea nitrogen (BUN) are measured to exclude renal insufficiency. ——Liver enzymes are measured to exclude liver disease as the etiology of elevated alkaline phosphatase level.

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 69-1. Radiograph showing deformed bone and widening of the physis in a patient with osteomalacia. From Bostrom MPG, Boskeu A, Kaufman JK, Einhorn TA. Form and function of bone. In: Buckwalter JA, Einhorn TA, Simon SR, eds. Orthopaedic Basic Science. 2nd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2000:362. Reproduced with permission.

Figure 69-2. Anteroposterior view displays bowing deformity in the lower extremity as a result of rickets. Additional findings include widening and cupping of the metaphyses, widening of growth plates, and osteopenia. 1 = Femoral physis; 2 = Abnormal tibial growth plate; 3 = Bowed tibia. From Bernstein J, ed. Musculoskeletal Medicine. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2003:374. Reproduced with permission.



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•• Findings in rickets caused by inadequate vitamin D intake or sunlight exposure ——Serum alkaline phosphatase level is elevated. ——Serum calcium may be normal or low. ——Serum phosphate level is low or normal. ——Serum calcidiol is low. ——Serum calcitriol is low or normal. ——Urine calcium may be normal or low. •• If laboratory test results are normal, a diagnosis of rickets is unlikely and another cause for skeletal dysplasia must be explored.

TREATMENT

•• Treatment depends on etiology. •• General guidelines ——For dietary mineral deficiency rickets, treatment is replacement of deficient mineral(s).

——With proper treatment, healing begins within a few days and progresses slowly until normal bone structure is restored.

——Once the deficiency is corrected, calcium, phosphorus, and parathyroid hormone concentrations should normalize within 1 to 3 weeks.

——Radiographic evidence of improvement is usually seen within 2 to 4 weeks. ——If insufficient improvement is seen, laboratory values are re-checked to evaluate for nonadherence to treatment or for non-dietary causes of rickets.

•• For rickets caused by inadequate vitamin D intake or sunlight exposure ——Preferred treatment is oral vitamin D „„50

to 250 mcg (2,000–10,000 IU) of vitamin D3 (ergocalciferol or cholecalciferol) administered daily until healing is evident and the alkaline phosphatase level is approaching normal „„Alternatively, weekly oral dose of 50,000 IU of vitamin D3 for 6 weeks (to avoid adherence problems) ——Natural or artificial light can also be effective. •• For X-linked hypophosphatemic rickets ——Burosumab, a fully human monoclonal neutralizing anti-FGF23 (ie, fibroblast growth factor 23) antibody, has been approved by the US Food and Drug Administration for treating X-linked hypophosphatemic rickets and is the treatment of choice. „„It is administered subcutaneously biweekly or monthly ——If burosumab is not available, the treatment is 40 mg of oral elemental phosphorus per kilogram per day in 4 to 5 divided doses, and calcitriol in 2 doses per day (10–20 ng/kg per dose). „„If the result is inadequate despite good adherence, the daily phosphorus dosage is increased in steps of 250 to 500 mg to a maximum of 3,500 mg. •• For hereditary hypophosphatemic rickets with hypercalciuria ——Treatment regimen is phosphorus supplementation alone (as described for the X-linked condition) ——Calcitriol is avoided because it may increase calcium absorption from the gastrointestinal tract, thereby increasing the risk for nephrocalcinosis and nephrolithiasis.

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——Children are monitored every 3 months for progress in height growth. ——Quarterly laboratory tests should include serum concentrations of calcium, phosphorus, alkaline phosphatase, and creatinine, as well as urine calcium.

——Annual renal ultrasonography is performed to evaluate for nephrocalcinosis. ——Annual radiography of the hand is performed to exclude reappearance of rickets and to determine bone age.

EXPECTED OUTCOMES/PROGNOSIS

•• When therapy occurs early and adherence is good, bony deformities can be minimized with little negative effect on activities of daily living and sports participation.

•• When detected late ——Persistent skeletal deformities may prevent development of high-quality gross motor skills and result in short stature.

——Rarely, pelvic deformities in women may necessitate cesarean delivery. ——Intercurrent infections may increase morbidity and mortality. PREVENTION

•• Adequate intake of vitamin D, calcium, and phosphorous and exposure to ultraviolet light

•• Breastfed neonates and infants whose mothers are not exposed to sunlight should receive a supplement of 600 IU of vitamin D daily.

•• Monitor dark-skinned, breastfed infants closely at well-child care visits for signs and symptoms of rickets.

•• Periodic dental examinations should begin in very early childhood for those with a diagnosis of rickets.

WHEN TO REFER

•• Refer to an endocrinologist: those with unclear etiologies or poor response to typical treatment

•• Refer to an orthopaedic surgeon: those with significant bony deformities ——The most common treatment is guided growth, which involves surgically

placing a device about the growth plate for gradual correction. Guided growth is beneficial early in the course of the disease as it can often obviate the need for osteotomies, which are larger, more complex surgeries. ——Bracing is generally not helpful.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• MedicineNet.com definition of rickets (calcium, phosphate, or vitamin D deficiency) (www.medicinenet.com/rickets/article.htm)

•• National Institutes of Health, National Center for Advancing Translational

Sciences, Genetic and Rare Diseases Information Center definition of rickets (https://rarediseases.info.nih.gov/GARD/Condition/5700/Rickets.aspx)

CHAPTER 70

Neurofibromatosis 1 Introduction/Etiology/Epidemiology

•• Formerly called von Recklinghausen disease, neurofibromatosis 1 (NF1) is an

autosomal-dominant neurocutaneous disorder that occurs in persons of all races and ethnicities. •• Incidence is approximately 1 per 3,000 births •• Penetrance is 100%; expressivity is variable. •• New mutations account for 25% to 50% of cases. •• NF1 is caused by mutation in the tumor-suppressor gene on the long arm of chromosome 17. •• Loss of heterozygosity at the NF1 tumor locus leads to increased tumorigenesis.

Signs and Symptoms

•• Café au lait spots and intertriginous freckling ——Flat, pigmented macules frequently present at birth (Figure 70-1) ——Increase in number during the first 3 to 5 years after birth ——Café au lait spots are nonspecific to NF1 (Box 70-1) ——Greater than 95% of children with NF1 will have more than 6 café au lait spots by 6 years of age.

•• Neurofibromas ——Benign nerve sheath tumors consisting of Schwann cells, fibroblasts, and perineural cells.

——Cutaneous neurofibromas protrude just above the skin surface or lie just under the skin with an overlying violaceous hue.

Figure 70-1. Café au lait spots in a Black infant with neurofibromatosis 1. From Tekin M, Bodurtha JN, Riccardi VM. Café au lait spots: the pediatrician’s perspective. Pediatr Rev. 2001;22:82–90.

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Box 70-1. Syndromes With Café Au Lait Spots • Ataxia-telangiectasia • Bloom syndrome • Fanconi anemia • Legius syndrome • McCune-Albright syndrome • Multiple endocrine neoplasia type 2B • Russell-Silver syndrome • Tuberous sclerosis Figure 70-2. Plexiform neurofibroma with overlying hyperpigmentation and hypertrichosis.

——Subcutaneous neurofibromas arise from peripheral nerves, lie deeper, and are generally hard and nodular.

——Generally begin to appear during the second decade after birth, following the onset of puberty

•• Plexiform neurofibromas (Figure 70-2) ——Histologically similar to cutaneous neurofibromas that involve single or multiple nerve fascicles arising from branches of major nerves

——Often have overlying hyperpigmentation or hair ——Generally present at birth or become apparent in the first several years ——Unpredictable growth rate ——May cause pain and neurologic dysfunction from pressure and interdigitation into peripheral nerves (neuropathy)

——May lead to disfigurement or organ compromise (eg, blindness, obstructive uropathy)

——Have high risk of eventual malignant transformation

•• Lisch nodules (Figure 70-3) ——Slightly raised, well-circumscribed melanocytic hamartomas of the iris best seen with a slit lamp.

——Develop with age; less than 30% of children younger than 6 years with NF1 have them, whereas they are present in more than 90% of adults.



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Figure 70-3. Lisch nodules.

•• Optic pathway tumor ——Symptomatic tumors occur in 7% of children with NF1. ——Period of greatest risk is during the first 6 years after birth; rarely do they arise after 10 years of age.

——May lead to visual loss, proptosis, decline or acceleration in growth rate, or

development of precocious puberty (due to effects on hypothalamic-pituitary axis)

•• Sphenoid dysplasia ——Pathognomonic of NF1 •• Orthopaedic manifestations ——Present in 80% of patients with NF1 •• Long-bone deformities ——Mesodermal dysplasia „„The

tibia is the most commonly affected bone. thirds of patients with anterolateral tibial bowing or tibial pseudarthrosis have neurofibromatosis. Often this is the first sign of NF1. „„Anterolateral bowing is the main deformity (Figure 70-4). „„Typically noticed at birth or in the first few months after birth. „„Dysplastic bones are prone to fracture after minor trauma. „„Tibia and forearm fractures in patients with neurofibromatosis have a high rate of developing a pseudarthrosis associated with disordered collagen, decreased cellularity, and poor blood supply. „„Pseudarthroses affect approximately 2% of children with NF1, including leg (tibia) and forearm (radius or ulna). „„Bone hypertrophy or destruction caused by plexiform neurofibromas. „„Nonossifying fibromas. •• Scoliosis ——Affects as many as 10% to 50% of patients with NF1 ——May look like idiopathic scoliosis early in the natural history but then progresses to dystrophic scoliosis, and thus requires very close monitoring. ——Dystrophic scoliosis (Figure 70-5) „„Progressive posterior scalloping of vertebral bodies associated with neurofibromas adjacent to nerve roots and dural ectasia. „„Results in enlargement of the spinal neural foramina „„Rapid curvature often develops. „„Two

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 70-4. Anterolateral bowing of the tibia associated with neurofibromatosis 1. From Armstrong AD, Hubbard MC, eds. Essentials of Musculoskeletal Care. 5th ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2016:1077. Reproduced with permission.

Figure 70-5. Paraspinal plexiform neurofibroma with associated scoliosis.

•• Other skeletal manifestations ——Short stature is common (distinguishable from changes in growth rate) ——Hemihypertrophy ——Low bone mineral density associated with low vitamin D

Differential Diagnosis

•• Other forms of skeletal dysplasia (see Chapter 68, Skeletal Dysplasias) •• Other syndromes with café au lait spots (see Box 70-1) •• Legius syndrome ——An autosomal-dominant syndrome due to mutation in the sprouty-related EVH1 domain containing 1 gene, SPRED1

——Characterized by multiple café au lait spots, intertriginous freckling, and macrocephaly, but no other manifestations of NF1

Diagnostic Considerations

•• Diagnostic criteria are highly sensitive and specific (Box 70-2). ——Individuals with Legius syndrome may be misdiagnosed as having NF1. If a

child reaches adulthood and has café au lait spots and intertriginous freckling,



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Box 70-2. Diagnostic Criteria for Neurofibromatosis 1 Two or more required for diagnosis • Six or more café au lait macules greater than 5 mm in greatest diameter in prepubertal children and greater than 15 mm in postpubertal persons • Two or more neurofibromas of any type or one plexiform neurofibroma • Freckling in the axillary or inguinal regions • Two or more iris Lisch nodules • Optic pathway tumor • A distinctive osseous lesion such as sphenoid dysplasia or thinning of long-bone cortex with or without pseudarthrosis • A first-degree relative with neurofibromatosis 1 by these criteria

but no other manifestations of NF1, Legius syndrome should be suspected and the individual should undergo genetic testing for NF1. If negative, testing for Legius syndrome should be pursued. •• Genetic testing is rarely necessary, except in unusual or atypical cases. ——If necessary, an RNA/DNA cascade of genetic testing will lead to confirmed mutation in the NF1 gene in more than 95% of clinically diagnosed cases.

Treatment

•• Currently, there are no NF1-specific treatments that would prevent complications from occurring.

•• The MEK inhibitor selumetinib, which has been shown to reduce the size of

growing plexiform neurofibromas and improve quality of life in many patients who have symptomatic tumors, has been approved for use in these patients. •• Children younger than 10 years should have yearly ophthalmologic examinations looking for signs of an optic pathway tumor. •• No other routine testing (eg, neuroimaging, spine radiographs) is warranted. •• Treatment of orthopaedic manifestations ——Early recognition of skeletal dysplasias is important for effective treatment. ——The risk of fracture due to long-bone bowing can be reduced with protective bracing. Bracing does not change the degree of bowing, however. ——Once a fracture occurs, healing is extremely difficult to obtain nonsurgically or surgically. These children often require amputation. ——Scoliosis may be temporarily managed by bracing but commonly requires surgical fusion.

Expected Outcomes/Prognosis

•• Mean IQ of the NF1 population is approximately 95; however, as many as 60% of children with NF1 will have some form of learning disability or attention-deficit/ hyperactivity disorder. •• There is an increased incidence of malignancy, including malignant peripheral nerve sheath tumors, leukemia, and rhabdomyosarcomas.

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•• NF1 vasculopathy may lead to renovascular hypertension or cerebrovascular disease.

•• Scoliosis may progress rapidly and may lead to paraplegia. •• Pseudarthroses usually require surgery; amputation is necessary in severe cases.

When to Refer

•• On diagnosis, all children should be referred to an NF1 multidisciplinary clinic for yearly physical examinations and plotting on standardized growth charts.

•• Skeletal complications should be referred to an orthopaedic surgeon.

Resources for Physicians and Families

•• Children’s Tumor Foundation (www.ctf.org) •• Neurofibromatosis Network (www.nfnetwork.org)

CHAPTER 71

Hemophilia Introduction/Etiology/Epidemiology

•• Hemophilia encompasses a variety of genetically determined coagulation factor deficiencies, although family history is not always present (Table 71-1).

•• Hemophilia results in prolonged bleeding, often after minimal or no trauma. •• Newborns and infants usually present with excessive bleeding after circumcision or hematomas after vaccinations.

•• Toddlers present with excessive thick bruises with round, indurated centers, and with large intramuscular hematomas from minor falls or trauma.

•• Factor levels determine clinical presentation and guide therapy and activity recommendations.

•• Factor levels less than 1% can present with spontaneous hemarthrosis or hematoma.

•• Factor levels between 1% and 5% of normal can lead to bleeding with relatively minor trauma.

•• Factor levels between 5% and 40% of normal produce only a small risk of hemorrhage with daily activities.

Signs and Symptoms

•• Hemarthrosis ——Most common in the elbow, knee, and ankle joints ——Acute symptoms are pain, swelling, and stiffness caused by a distended joint capsule.

Table 71-1. Etiology and Inheritance Patterns of Common Hemophilia Subtypes Subtype

Etiology

Inheritance Pattern

Hemophilia A (“Classic hemophilia”)

Factor VIII deficiency

X-linked recessive

Hemophilia B (“Christmas disease”)

Factor IX deficiency

X-linked recessive

Hemophilia C

Factor XI deficiency

Autosomal recessive

von Willebrand disease (most common bleeding disorder)

von Willebrand protein deficiency or dysfunction

Autosomal dominant

70% positive family history

Spontaneous hemarthrosis occurs rarely and is usually asymptomatic

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——Examination reveals a distended joint with limited passive and active range of motion and often tense, shiny overlying skin.

•• Intramuscular hematomas ——Present as thick, round, indurated bruises with tense, shiny overlying skin ——Can lead to a compartment syndrome, characterized by severe pain that is out

of proportion to the apparent trauma or other physical findings pain with gentle passive range of motion is typically the clinical hallmark of compartment syndrome. Since these changes can evolve rapidly, it is important to re-examine patients frequently over time. „„In children, the presence of the 3 As (increasing anxiety, agitation, and analgesia) is an indication for an emergent orthopaedic evaluation. „„Severe

Differential Diagnosis •• Acute hemarthrosis ——Septic arthritis ——Intra-articular injury •• Intramuscular hemorrhage ——Pyomyositis ——Intramuscular abscess ——Muscle tear ——Tendon rupture

Diagnostic Considerations

•• The patient with hemophilia presenting with acute pain typically has an acute bleed, either into a joint (hemarthrosis) or into a muscle (hematoma).

•• Evaluate carefully for any signs of infection, which is typically secondary from

having seeded the underlying hemarthrosis/hematoma with bacteria. Failure to identify infection in this setting can result in disastrous consequences. •• Radiographs (at least 3 views of the affected joint) should be obtained in any case of joint effusion or in uncertain presentations to rule out intra-articular fracture, ligament tear, loose bodies, or osteochondral lesions. •• Repeated intra-articular hemorrhage can lead to characteristic radiographic joint changes (Table 71-2). •• Patients with hemophilia will frequently have radiographic evidence of myositis ossificans, a sign of prior trauma and/or bleeding into the muscle. (See Chapter 32, Traumatic Muscle Injuries, Figure 32-3.) These calcifications are rarely symptomatic. •• Diagnostic ultrasonography is a noninvasive and portable modality that can be useful in serial monitoring of hematomas to evaluate if bleeding is continuing to occur. It is especially valuable for evaluating large joints (eg, hip, shoulder) and deep soft tissues (eg, iliopsoas, retroperitoneum). •• Magnetic resonance imaging provides the best evaluation of cartilage and soft tissue anatomy, and it can help distinguish between septic arthritis and hemarthrosis when used in conjunction with joint fluid aspiration and analysis.



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Table 71-2. Radiographic Staging of Hemophilic Arthropathy Stage Description 1

Soft tissue swelling No radiographic abnormality

2

Overgrowth and osteoporosis of epiphysis

3

Mild to moderate joint narrowing Subchondral cysts Patellar squaring Widening of intercondylar notch of knee and trochlear notch of elbow

4

Severe narrowing of joint space with cartilage destruction Other osseous changes very pronounced

5

Total loss of joint space with fibrous ankylosis

Treatment

•• Appropriate management is a multidisciplinary model that involves the primary

care pediatrician in concert with orthopaedic surgeons and hematologists. Physical therapy also plays an important role in rehabilitation following joint hemarthrosis. •• First-line treatment of any mild joint effusion or soft tissue hematoma includes ice, elevation, compression, and immobilization for at least 48 hours. •• Aspiration and irrigation of hemarthrosis ——Controversial ——The risks of further bleeding and introduction of infection must be balanced with potential benefits of pain relief, ability to send aspirate for diagnostic studies, and possibility of avoiding chronic synovitis by blood removal. However, if there is any concern that the joint is infected, the benefits of aspiration far exceed the risk. ——Aspiration is generally done by an orthopaedic surgeon under strict sterile conditions within 20 to 30 minutes after intravenous (IV) administration of appropriate replacement coagulation factors. •• Home IV therapy—IV administration of appropriate coagulation factors ——Prime intervention for preventing further pain, disability, or life-threatening hemorrhage ——On-demand treatment of recurrent hemarthrosis involves elevating appropriate factor levels to a level that secures hemostasis (usually about 50% of normal activity) with daily to twice daily treatments for 2 to 3 days to control the hemarthrosis. ——For factor VIII, a typical daily dose of 15 to 40 IU/kg is sufficient. ——For factor IX, 25 to 50 IU/kg per day is generally used. ——For von Willebrand disease, cryoprecipitate (contains factor VIII) and fresh frozen plasma (contains factor IX) can be used. ——Desmopressin (0.3 µg/kg body weight) can be used to treat mild bleeding episodes (oral bleeding, dental work, or small hematomas) in patients with factor VIII deficiency.

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——Self-administration of coagulation factor replacement therapy can be used by

well-informed parents and older patients to allow earlier intervention and to reduce the risk of significant complications. ——Remind all patients and caregivers that severe joint bleeding leading to a marked joint swelling is a medical emergency and patients should receive medical treatment within 4 hours of the onset of bleeding. •• Because pain is a primary indicator of continued hemorrhage, select narcotic mediations with caution so they do not diminish the patient’s ability to judge symptom progression. •• Physical therapy is important to improve joint range of motion, strength, balance, and proprioception, which can prevent sequelae of recurrent hemorrhages (eg, muscle atrophy and restricted joint range of motion). •• In cases of recurrent hemarthrosis, a surgical or chemical (radionuclide) synovectomy may be indicated.

Expected Outcomes/Prognosis

•• A septic joint that is not treated promptly may erode the joint cartilage very quickly, leading to the rapid progression of arthropathy in childhood.

•• Prolonged or repeated hemarthrosis may create an inflammatory synovial

reaction, leading to cartilage destruction and joint degeneration and contracture, known as secondary hemophilic arthropathy, which results in a fixed, unusable joint. This is typically manifest in adulthood. •• A missed or delayed diagnosis of compartment syndrome can result in significant muscle necrosis that leads to a contracted, insensate, and nonfunctional limb. •• Multiple exposures to blood products increase the risk for HIV, hepatitis B and C (universal hepatitis B immunization reinforced for patients with hemophilia and their caregivers), chronic active hepatitis, and cirrhosis. •• Other long-term sequelae include osteoporosis and muscular atrophy. •• Patients with hemophilia are also at increased risk for hypertension and renal disease of uncertain etiology.

Prevention

•• Prophylactic factor replacement ——May reduce recurrent hemorrhage and subsequent arthropathy, especially in younger patients without a history of repeated hemorrhage.

——The hematologist calculates the appropriate factor replacement dosage based

on patient weight and plasma volume, with a treatment goal of 30% to 40% of normal factor activity. ——Primary prophylaxis started after the first joint bleed or before the patient is 2 years of age is now the evidence-based, first-choice treatment of severe hemophilia. ——Randomized controlled studies are ongoing to assess further concerns about proper initiation and frequency of prophylactic therapy, costs, and efficacy versus placebo and on-demand factor replacement.



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——An additional concern is the development of inhibitors, which are

alloantibodies that decrease the effectiveness of prophylactic factor supplementation. This is important to be aware of, as 15% to 40% of patients with hemophilia A and 2% to 5% of patients with hemophilia B will develop inhibitors. ——Once joint damage has occurred, secondary prophylaxis can slow but not prevent ongoing joint damage. •• Education of patients and caregivers ——Pad cribs and play areas. ——Provide close supervision of toddlers learning to walk. ——Avoid giving aspirin, antihistamines, and other medications that inhibit platelet function. ——Avoid giving nonsteroidal anti-inflammatory medications. When antiinflammatory medications are necessary to treat other conditions, consider selective cyclooxygenase (COX)-2 inhibitors (celecoxib) as opposed to ibuprofen due to lower risk of bleeding associated with COX-2 inhibitors. ——Learn to recognize early signs of abnormal bleeding into joints and soft tissue. •• Sport or activity recommendations ——Children with hemophilia should be encouraged to be as active as possible within general restrictions on not engaging in any impact or collision sports. For children with severe hemophilia A and B who are receiving regular factor prophylaxis and who are under adult coaching and supervision, significant bleeding complications are uncommon and the level of impact of athletic participation is not a prognostic factor for joint outcomes. ——An emergency plan to treat bleeding is required, including immediate application of cold compresses or ice to the affected area and rapid replacement of deficient clotting factors. ——Protective pads in clothing and equipment can help reduce the bleeding risk, and so might appropriate adult supervision. ——Proper preparation and surveillance can assist those with hemophilia to obtain many exercise benefits, such as increased flexibility, gait coordination, and muscular strength, which may reduce the risk of subsequent injury. ——In the United States, the National Hemophilia Foundation has stratified sports according to risk groups (http://www.hemophilia.ca/files/PlayingItSafe.pdf); this information can be used by medical professionals to help counsel patients and families.

When to Refer

•• Significant bleeding into a joint, as well as concern for concomitant infection or compartment syndrome, are orthopaedic emergencies that warrant immediate orthopaedic evaluation. •• Head injuries should have a low threshold for further evaluation with imaging, especially in the patient with moderate or severe hemophilia.

CHAPTER 72

Achondroplasia Introduction/Etiology/Epidemiology

•• Achondroplasia is the most common skeletal dysplasia, with an incidence of 1 in 30,000 live births.

•• Mutations of fibroblast growth factor receptor 3 (FGFR3) on chromosome

4 result in the inhibition of chondrocyte growth and proliferation, with underdevelopment and shortening of bones formed by endochondral ossification. Articular cartilage is unaffected. •• Patients with achondroplasia display manifestations in the spine, upper and lower extremities, and face. •• Inheritance is autosomal dominant. •• More than 80% of cases are sporadic. •• Advanced paternal age (older than 35 years) is associated with sporadic mutations.

Signs and Symptoms

•• The primary feature of achondroplasia is short stature, defined as a height at least

2 standard deviations (SD) below the population mean. ——Short stature is caused by rhizomelic (proximal extremity) shortening—the humerus and femur are affected more than the forearm and tibia. Trunk length is in the lower range of normal. ——Patient length on average is −1.5 SD at birth, −4.4 SD at 1 year, and −5.0 SD at 2 years. ——The mean final adult height for those with achondroplasia is 6 to 7 SD below normal; the overall mean adult height for patients with achondroplasia is 52 inches (range, 46–57 inches) in men and 49 inches (range, 44–54 inches) in women. •• There may be frontal bossing and midface hypoplasia. •• During infancy, patients may have foramen magnum stenosis. ——Stenosis may present with sleep apnea, excessive snoring, signs of chronic brainstem compression (ie, lower cranial nerve dysfunction, swallowing difficulty, hyperreflexia, hypotonia, weakness, developmental delay, and clonus), or death •• Most neonates develop thoracolumbar kyphosis as sitting begins. ——When sitting begins, these newborns slump forward because of their large heads and poor trunk control. 695

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——Repeated slumping can increase the kyphosis and result in anterior wedging of the vertebral bodies.

——Examination reveals a gibbus or prominence of the thoracolumbar junction

when the neonate is in the sitting position. An infant with a “bump on their back” from a kyphotic thoracolumbar spine may prompt further evaluation, including radiographic and genetic evaluation, because many patients with achondroplasia or other skeletal dysplasias may present this way. ——Thoracolumbar kyphosis in patients with achondroplasia is defined by the presence of more than 20 degrees of kyphosis at the thoracolumbar junction. ——Most kyphoses resolve within 1 year after walking begins. ——Persistent thoracolumbar kyphosis occurs in 30% of patients and may result in deformity progression and neurologic symptoms, including paresthesias, incontinence, and the inability to walk. •• Genu varum ——The primary manifestation in the lower extremity ——May be asymptomatic or associated with knee pain or instability ——A lateral thrust may be evident with walking. •• Lumbosacral hyperlordosis ——May be seen during childhood in up to 80% of patients ——Secondary to increased pelvic tilt while standing ——Presents as a prominent abdomen and buttocks with hip flexion contractures •• Symptomatic spinal stenosis ——Occurs as a result of endochondral ossification defects along the entire spinal column, producing short, thickened pedicles and a narrowing of the interpediculate distance from L1 to L5 (Figure 72-1). Mismatch between the smaller spinal canal and the normal-sized neural elements increases risk for spinal stenosis. ——Occasionally develops during adolescence, but more often in adulthood ——Symptoms include leg pain; numbness, weakness, or frequent squatting to relieve pain as in neurogenic claudication; and neurologic incontinence. •• Flexion contractures of the elbow and subluxated radial heads •• Trident hand ——Extra space between first and second rays and third and fourth rays, with all fingers of nearly equal length ——Trident hand alone does not cause functional impairment, but because of rhizomelic shortening, the fingertips may reach only to the greater trochanters, creating difficulties with personal hygiene. •• Medical complications ——Up to 95% of patients with achondroplasia have abnormalities of the midface or otolaryngeal system, including frequent otitis media and adenotonsillar hypertrophy. ——Surgical intervention may be required. ——Speech acquisition may be delayed. ——Hydrocephalus may be present, and shunting is required in approximately 11% of patients. ——Overweight and obesity are not uncommon.



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Figure 72-1. Decreasing interpediculate distances (arrow) consistent with spinal stenosis of lumbar spine in achondroplasia. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:812. Reproduced with permission.

•• Achievement of motor milestones may be delayed. ——Developmental delay may be the result of joint laxity, hypotonia, or foramen magnum stenosis.

——On average, children with achondroplasia are able to sit at 10 months, stand at 18 months, and walk independently at 20 months.

Differential Diagnosis

•• Hypochondroplasia (milder form of achondroplasia)

Diagnostic Considerations

•• Diagnosis is established based on the combination of clinical findings and radiographic findings from a skeletal survey, often in infancy.

•• The diagnosis may be established via prenatal testing, which can detect the FGFR3 G380R point mutation.

•• Radiographic findings ——Narrowing of the interpediculate distance from L1 to L5 (see Figure 72-1) ——Squared iliac wings (Figure 72-2) ——Rhizomelic shortening ——Flared metaphyses of the long bones

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 72-2. Horizontal acetabular roof and squared iliac wings (black arrows) in achondroplasia. White arrow, horizontal acetabulum. White arrowhead, sciatic notch. From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:812. Reproduced with permission.

——Genu varum is demonstrated on standing anteroposterior radiographs by a

mechanical axis (line from the center of the femoral head to the center of the ankle) that passes medial to the normal axis of the knee. ——Lateral sitting spine radiographs are obtained to determine the degree of the kyphosis and to evaluate for vertebral wedging.

Treatment

•• Health supervision ——For a full discussion, see the American Academy of Pediatrics policy statement

on Health Supervision for Children With Achondroplasia (https://pediatrics. aappublications.org/content/116/3/771). ——Weight, head circumference, and occipitofrontal circumference are measured monthly during the first year. ——Careful neurologic and spine examinations are performed at each well-child care visit. ——All infants with achondroplasia are screened for foramen magnum stenosis with a history, physical examination, and sleep study. ——Speech evaluation should occur by 2 years of age. ——In an effort to prevent persistent kyphosis, neonates with achondroplasia should be prohibited from sitting without support, or at an angle greater than 60 degrees, even with support. Sitting at an angle of 45 degrees is sufficient to allow the newborn to interact with others. When holding the newborn, hand counter pressure should be placed on the thoracolumbar junction. •• Weight control ——Difficult for patients with achondroplasia ——Physical activity should be encouraged, with the exception of collision sports, which are hazardous in patients with potential cervical stenosis. •• Stature augmentation ——Indications for stature augmentation are highly controversial. ——Because short stature may result in impairments of daily activities, stature augmentation may be considered. ——May be achieved by medical or surgical means, but the latter method produces greater height increases



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——Medical treatment of short stature „„Modest

improvement in height has been observed with off-label use of recombinant human growth hormone. „„The safety and efficacy of a C-type natriuretic peptide analogue is currently under evaluation. ——Surgical limb lengthening „„Can be challenging due to potential for worsening body size disproportion because upper and lower extremity lengthening is required. „„Extensive limb lengthening typically occurs at 2 intervals, at approximately 7 and 12 years of age. „„The total treatment and rehabilitation duration may be as long as 3 years. „„Complications of lower extremity lengthening may be as high as 40%. •• Upper extremity manifestations ——Intervention is typically not needed for flexion contractures of the elbows or subluxated radial heads because these rarely cause functional impairments. •• Genu varum ——Surgical treatment is indicated for pain, lateral thrust, or substantial malalignment. ——An osteotomy of the femur or tibia, or both, corrects malalignment, which ameliorates the pain and fibular thrust. ——Many patients with genu varum also have in-toeing because of internal tibial torsion, which is corrected at the time of surgery. •• Foramen magnum stenosis ——When the signs or symptoms of stenosis are present in combination with magnetic resonance imaging evidence of compression, referral to a neurosurgeon for surgical decompression is necessary. ——Decompression before 4 years of age is indicated in approximately 7% of patients. •• Thoracolumbar kyphosis ——If the kyphosis persists or severe anterior wedging is seen, bracing is considered. ——If the kyphosis progresses to greater than 50 degrees, spinal arthrodesis is indicated to prevent further progression with potential neurologic compromise. •• Symptomatic spinal stenosis ——Magnetic resonance imaging is necessary to evaluate the extent of spinal stenosis. ——Surgical intervention, which consists of a long, wide decompression, is required for treatment and to avoid recurrence. ——Duration of symptoms is associated with long-term functional outcomes. •• Frequent otitis media and adenotonsillar hypertrophy ——Surgical intervention may be required.

Expected Outcomes/Prognosis

•• Quality of life studies show similar findings in patients with achondroplasia and

those with typical stature until around age 40 years, when back pain and stenosis become more prevalent.

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•• Infants who receive the abnormal gene from both parents often do not survive beyond a few months.

•• Better recognition of this condition may contribute to an improvement in early mortality rates in patients with achondroplasia.

•• Most people with achondroplasia have a normal life span and normal intelligence. •• Very few people with achondroplasia reach a height of 5 feet.

When to Refer

•• Refer to a geneticist and a pediatric orthopaedic surgeon on diagnosis. ——These specialists will evaluate the child during the first few months after birth to establish a baseline examination and educate parents about the manifestations that may develop. •• Refer patients with foramen magnum stenosis to a neurosurgeon. •• Refer patients with frequent otitis media and tonsillar hypertrophy to an otolaryngologist.

The views expressed in this chapter are those of the author and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, or the United States Government. I am an employee of the U.S. Government. This work was prepared as part of my official duties. Title 17 U.S.C. 105 provides that “Copyright protection under this title is not available for any work of the United States Government.” Title 17 U.S.C. 101 defines a United States Government work as a work prepared by a military service member or employee of the United States Government as part of that person’s official duties.

CHAPTER 73

Down Syndrome Introduction/Etiology/Epidemiology

•• Down syndrome is a genetic disorder associated with intellectual disability and

musculoskeletal, cardiovascular, endocrine, gastrointestinal, immune, and visual abnormalities (Box 73-1). •• It is caused by an additional chromosome 21. Chromosome 21 codes for type VI collagen; this abnormality results in generalized laxity. •• The most common chromosomal abnormality in the United States, it affects 1 in every 800 to 1,000 live births. •• Risk increases with maternal age from 1 in 2,000 at maternal age 20 years to 1 in 30 at maternal age 45 years. •• Common physical characteristics include microcephaly, epicanthal folds, hypotonia, short neck, flattened nasal bridge, single transverse palmar crease, shortened limbs, and a protruding tongue.

Box 73-1. Medical Concerns for Individuals With Down Syndrome • Intellectual disability (varies) • Obesity • Obstructive sleep apnea • Hearing loss • Epilepsy • Leukemia • Musculoskeletal — Atlantoaxial instability — Joint instability/laxity — Hypotonia — Pes planus — Scoliosis • Cardiovascular — Congenital heart defects (atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent foramen ovale, patent ductus arteriosus, tetralogy of Fallot) — Lower cardiovascular fitness level • Endocrine — Thyroid disease

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Box 73-1. Medical Concerns for Individuals With Down Syndrome, continued • Gastrointestinal — Tracheoesophageal fistula — Duodenal atresia — Annular pancreas — Hirschsprung disease — Anal atresia — Umbilical hernia • Visual — Cataracts — Severe refractive errors

Musculoskeletal Manifestations

•• Ligamentous laxity increases risk for shoulder, hip, and patellar dislocations (see

Chapter 31, Strains, Sprains, and Dislocations), pes planus (see Chapter 52, Flatfoot), and atlantoaxial instability (AAI) or laxity at C1-C2 (see Chapter 17, Atlantoaxial Rotatory Subluxation or Fixation). •• Slipped capital femoral epiphysis (see Chapter 20) ——Although treatment indications are the same, a higher complication rate is observed in patients with Down syndrome. •• Scoliosis (see Chapter 11, Idiopathic Scoliosis and Congenital Scoliosis) •• Arthropathy of Down syndrome ——Shares clinical features with juvenile idiopathic arthritis (see Chapter 74) ——Should be considered in any patient with Down syndrome who has worsening tone and/or spasticity in the lower extremities or the presence of contractures. ——Untreated, arthropathy of Down syndrome can be quite debilitating; however, it typically does well when treated. Medical treatment is similar to that of juvenile idiopathic arthritis. •• Treatment of musculoskeletal manifestations is similar to that for those without Down syndrome and is discussed in previous chapters. Notable differences are as follows: ——Because cases of asymptomatic patients having worsening symptoms with sports participation have not been observed, routine radiographs of the cervical spine are not necessary. Thus, the history is absolutely critical to determine that the patient is in fact symptom free. „„Symptoms to ask the parent or caregiver about ™™ Has your child had any change in ambulation, decrease in endurance and/or activity level, or decrease in coordination? ™™ Has your child had any change in bowel and/or bladder habits? ——Flexion-extension radiographs of the cervical spine are advisable prior to intubation for surgical procedures.



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——The complication rate of atlantoaxial fusions in patients with Down syndrome

is notoriously high with regard to both morbidity and mortality. Consequently, most mild cases of AAI are not treated surgically, but rather are carefully monitored for any developing neurologic signs or symptoms. Prompt surgical stabilization should occur if there is any suspicion that neurologic change is developing due to the AAI. ——In some cases in which flexion-extension radiographs are equivocal, flexionextension magnetic resonance imaging may provide valuable information. However, if the child requires sedation for this, as is often the case, the anesthesia team should be made aware of the potential cervical instability. ——Down syndrome creates laxity, and joints are expected to be hypermobile. Therefore, detection of increased tone on examining a patient with Down syndrome warrants immediate further evaluation as it likely indicates either cord compression (secondary to cervical instability) or arthropathy of Down syndrome. ——The occurrence of hip instability in Down syndrome is reported as approximately 5%. This can be progressive, leading to subluxation that becomes persistent and eventually results in a fixed dislocation. Additionally, these patients may experience habitual dislocation. Consequently, a thorough hip examination and evaluation of leg lengths is an important part of their annual clinical evaluation. Any abnormality should prompt an evaluation by an orthopaedic specialist.

Participation in Sports and Physical Activities

•• Because of increased risk for obesity in these patients, physical activity is encouraged.

•• The Special Olympics is an international organization that offers children and

adults with intellectual disabilities year-round training and competition in 32 Olympic-type winter and summer sports. •• Because of the risk of AAI, Special Olympics historically required cervical radiographs for all participants. Rules adopted in 2017 state that if an athlete’s primary care physician is completing the Special Olympics International Medical Form (https://resources.specialolympics.org/taxonomy/leading_a_program/ athlete_registration_forms.aspx), athletes (with or without Down syndrome) who exhibit no symptoms of AAI are no longer required to obtain cervical radiographs for participation. If the athlete has symptoms of AAI (or spinal cord compression at any level), then the athlete must undergo further neurologic evaluation by a specialist to determine whether they can safely participate. If the physician is not using the new Special Olympics International Medical Form, then cervical radiographs are required for participation. (See Chapter 17, Atlantoaxial Rotatory Subluxation or Fixation, and Chapter 37, Pediatric Athletes With Disabilities.) •• If ligamentous laxity is present in other joints (see Figure 4-2 in Chapter 4, Physical Examination), counsel patient and family on increased risk for recurrent traumatic subluxations and dislocations. Some individuals may choose not to participate in sports that increase risk of dislocation, including, but not limited to, basketball, football, wrestling, soccer, and hockey.

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Bibliography—Part 18 Bull MJ; American Academy of Pediatrics Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393–406 Reaffirmed 2018 Bürk K. Friedreich Ataxia: current status and future prospects. Cerebellum Ataxias. 2017;4(1):4 Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nat Rev Dis Primers. 2017;3(1):17101 Chanchlani R, Nemer P, Sinha R, et al. An overview of rickets in children. Kidney Int Rep. 2020;5(7):980–990 Chibuzor MT, Graham-Kalio D, Osaji JO, Meremikwu MM. Vitamin D, calcium or a combination of vitamin D and calcium for the treatment of nutritional rickets in children. Cochrane Database Syst Rev. 2020;4(4):CD012581 DeLucia TA, Yohay K, Widmann RF. Orthopaedic aspects of neurofibromatosis: update. Curr Opin Pediatr. 2011;23(1):46–52 Elefteriou F, Kolanczyk M, Schindeler A, et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. Am J Med Genet A. 2009;149A(10):2327–2338 Goto M, Takedani H, Yokota K, Haga N. Strategies to encourage physical activity in patients with hemophilia to improve quality of life. J Blood Med. 2016;7:85–98 Gross AM, Wolters PL, Dombi E, et al. Selumetinib in Children with Inoperable Plexiform Neurofibromas. N Engl J Med. 2020;382(15):1430–1442 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3:17004 Hoover-Fong J, Scott CI, Jones MC; American Academy of Pediatrics Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010 Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162–172 Howell C, Scott K, Patel DR. Sports participation recommendations for patients with bleeding disorders. Transl Pediatr. 2017;6(3):174–180 Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705–712 Lerch C, Meissner T. Interventions for the prevention of nutritional rickets in term born children. Cochrane Database Syst Rev. 2007;(4):CD006164 Maffet M, Roton J Jr. Hemophilia in sports: a case report and prophylactic protocol. J Athl Train. 2017;52(1):65–70 Margalit A, McKean G, Lawing C, Galey S, Ain MC. Walking out of the curve: thoracolumbar kyphosis in achondroplasia. J Pediatr Orthop. 2018;38(10):491–497 Nikkel SM. Skeletal dysplasias: what every bone health clinician needs to know. Curr Osteoporos Rep. 2017;15(5):419–424 Rossi V, Lee B, Marom R. Osteogenesis imperfecta: advancements in genetics and treatment. Curr Opin Pediatr. 2019;31(6):708–715 Special Olympics. Athlete Medical Form—Health History. https://media.specialolympics.org/ resources/leading-a-program/registration-forms/SOI_Medical%20Form_US%20Programs_July2017. pdf. Updated July 2017. Accessed December 14, 2020. Stevenson DA, Little D, Armstrong L, et al. Approaches to treating NF1 tibial pseudarthrosis: consensus from the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium. J Pediatr Orthop. 2013;33(3):269–275



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Tauer JT, Robinson ME, Rauch F. Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus. 2019;3(8):e10174 White KK, Bompadre V, Goldberg MJ, et al. Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A. 2016;170A(1):42–51 Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2): 129–134 Zimmerman B, Valentino LA. Hemophilia: in review. Pediatr Rev. 2013;34(7):289–294

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Part 19: Rheumatologic and Connective Tissue Diseases TOPICS COVERED 74. Juvenile Idiopathic Arthritis .................................................... 709 75. Autoimmune Connective Tissue Diseases .................................. 723 Systemic Lupus Erythematosus Juvenile Dermatomyositis Juvenile Localized Scleroderma Juvenile Systemic Sclerosis 76. Inherited Connective Tissue Diseases ........................................ 737 Marfan Syndrome Ehlers-Danlos Syndrome



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Juvenile Idiopathic Arthritis Introduction/Etiology/Epidemiology

•• The term juvenile idiopathic arthritis (JIA) replaced the older term, juvenile

rheumatoid arthritis, to reflect the unknown (idiopathic) cause of this disease.

•• JIA is characterized by the presence of arthritis in a child younger than 16 years of age and that lasts at least 6 weeks and has no other identifiable cause.

•• Annual incidence is approximately 10 per 100,000 children. Conservative estimates suggest that 300,000 children in the United States have JIA.

•• JIA is an autoimmune disease. Complex interactions between the immune system

and numerous environmental factors in a genetically susceptible individual result in immune-mediated inflammation of the synovial lining of joints and tendons. •• There are 7 different subtypes of JIA: oligoarticular JIA, polyarticular JIA (rheumatoid factor [RF] negative), polyarticular JIA (RF positive), enthesitisrelated arthritis (ERA), psoriatic JIA, systemic JIA, and undifferentiated JIA. •• The subtypes are defined based on the number and type of joints involved, extraarticular features, family history, and laboratory profile. •• Anterior chamber uveitis is the most common extra-articular manifestation of JIA.

Signs and Symptoms

•• Signs and symptoms are specific to the JIA subtype (Table 74-1). •• In young children, pain is often not a prominent feature of the disease. Morning stiffness and gait abnormalities are more common presenting features in this population.

Differential Diagnosis

•• Table 74-2 lists non-JIA diagnoses associated with joint pain and/or swelling.

Diagnostic Considerations

•• Arthritis is a clinical diagnosis and is characterized by the following features: ——Joint swelling ——Warmth of the skin overlying the joint ——Limitation in range of motion of the joint ——Pain on movement of the joint •• Muscle atrophy and joint contractures may also be present in cases of longstanding, undertreated disease.

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Table 74-1. Signs and Symptoms of Juvenile Idiopathic Arthritis Subtypes Diagnostic Criteria

Demographics

Distinguishing Features

Clinical Pearls

Oligoarticular JIA

Persistent oligoarticular JIA: Affecting ≤ 4 joints throughout the disease course

Preschool-aged children (F > M)

Morning stiffness that improves with activity. Pain is often not primary symptom; children often are very playful.

Anterior uveitis is more common in this group. Risk factors include young age, female sex, and positive ANA.

May see limp, regression in motor milestones.

Screen for Lyme disease in patients with arthritis affecting only 1 joint.

Bilateral symmetric polyarthritis (> 4 joints)

Early aggressive treatment is key

Extended oligoarticular JIA: Affecting > 4 joints after the first 6 mo of disease Polyarticular JIA (RF+ and RF−)

Affecting ≥ 5 joints in the first 6 mo of disease

Bimodal: age 2–3 y; adolescence

Morning stiffness is common ERA

Enthesitis and arthritis

M > F

OR

Peak onset is at age 12 y

enthesitis OR arthritis PLUS 2 of the following: SI joint tenderness or lumbosacral pain, presence of HLA-B27, onset of arthritis in male aged > 6 y, acute (symptomatic) anterior uveitis, history of HLA-B27– mediated disease in a firstdegree relative

Asymmetric oligoarthritis or polyarthritis predominantly affecting large lower extremity joints and entheses. Axial disease is common, often presenting with stiffness and pain in the low back (lumbar and SI joints). HLA-B27–mediated diseases include ankylosing spondylitis, reactive arthritis, acute anterior uveitis, and IBD

Prevalence of TMJ arthritis is highest among patients with RF− type ERA may coexist with IBD and be the initial presenting symptom. Risk of coexisting fibromyalgia is higher in this subgroup of JIA compared to others.

Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Disease Entity



Table 74-1. Signs and Symptoms of Juvenile Idiopathic Arthritis Subtypes, continued Disease Entity

Diagnostic Criteria

Demographics

Distinguishing Features

Clinical Pearls

Psoriatic JIA

Psoriasis and arthritis

Bimodal: age 2–3 y; adolescence

Psoriatic rash.

Anterior uveitis can be asymptomatic or acute, presenting with pain and redness.

OR psoriasis OR arthritis

Trauma is known to trigger flares of arthritis.

Undifferentiated JIA

Enthesopathy is common.

Arthritis plus 2 wk of fever, ≥3 d of which are quotidian AND 1 of the following: rash (evanescent, salmon-colored) (see Figure 74-11), serositis, lymphadenopathy, hepatomegaly or splenomegaly

Age 3–5 y

Does not fulfill criteria for any 1 subtype

All ages

OR fulfills criteria for >1 subtype

F=M

Psoriasis usually responds to arthritis treatment. Increased risk of metabolic syndrome in patients with psoriatic JIA.

Laboratory abnormalities: hyperferritinemia, leukocytosis, hyperfibrinogenemia, transaminitis

Can be complicated by MAS, in which cytopenia and hypofibrinogenemia occur.

Autoinflammatory disease, mediated by cytokines IL-1, IL-6, IL-18

NOTE: Do not be reassured by decreasing WBC count and ESR because this may indicate evolving MAS.

Lacks distinguishing features to assign to one of the other JIA subtypes or, conversely, has features of >1 other JIA subtype.

Most common example is a child with polyarticular RF− JIA with features of either psoriatic JIA or ERA subtype of JIA.

Chapter 74: Juvenile Idiopathic Arthritis

PLUS 2 of the following: nail pitting or onycholysis, dactylitis, psoriasis in a first-degree relative Systemic JIA

Asymmetric joint distribution.

Treatment is tailored according to disease severity, in terms of number and type of joint involvement.

Abbreviations: ANA, antinuclear antibody; ERA, enthesitis-related arthritis; ESR, erythrocyte sedimentation rate; F, female; HLA, human leukocyte antigen; IBD, inflammatory bowel disease; IL, interleukin; JIA, juvenile idiopathic arthritis; M, male; MAS, macrophage activation syndrome; RF−, rheumatoid-factor negative; RF+, rheumatoid-factor positive; SI, sacroiliac; TMJ, temporomandibular joint; WBC, white blood cell.

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Table 74-2. Other Diagnoses Associated With Joint Pain and/or Swelling Disease Entity Acute lymphocytic leukemia

Distinguishing Demographics Features

Clinical Pearls

Preschool- and school-aged children

Initial CBC and bone marrow findings may be normal.

May present with very painful joint swelling. Pain awakens child at night or keeps child up all night. Fevers, night sweats, pallor.

Benign hypermobility syndrome

Pediatric fibromyalgia

Important to repeat these studies if clinical suspicion remains.

F > M

Diffuse musculoskeletal pain, often worse with activity and better with rest.

Small effusions are common, occur with or after activities; should not see synovitis

Usually adolescents

Chronic widespread pain for ≥3 mo

Poor sleep, anxiety, and depression are common comorbidities.

Late preadolescents and early adolescents

Tender point examination not validated in pediatric population

Patients commonly have a positive family history of fibromyalgia.

Apophysitis (eg, Osgood-Schlatter disease) (See Chapter 33, Overuse Injuries)

School-aged children and adolescents

Localized musculoskeletal pain made worse with activity and better with rest

Tenderness and swelling at the affected apophysis

Infectious arthritis (See Chapter 8, Septic Arthritis)

Any age

Patients are sick-appearing

Arthrocentesis necessary to evaluate synovial fluid (eg, culture, cell count, Gram stain)

Acute rheumatic fever

Usually acute onset, pain with movement. May have fevers. Often have abnormal laboratory values (eg, elevated WBC, CRP level). Age 5–15 y

Differential diagnosis includes osteomyelitis in adjacent metaphysis

Positive streptococcal throat culture or serologies (ASO, anti-DNase B)

Need 2 major criteria or 1 major plus 1 minor criterion for diagnosis

Jones major criteria: migratory arthritis, erythema marginatum, Sydenham chorea, subcutaneous nodules, carditis

Prophylactic antibiotics for several years as well as screening for carditis

Jones minor criteria: elevated ESR, CRP level; fever; prolonged PR interval

Responsive to NSAIDs Very elevated CRP level, ESR



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Table 74-2. Other Diagnoses Associated With Joint Pain and/or Swelling, continued Disease Entity Poststreptococcal reactive arthritis

Distinguishing Demographics Features Age 5–15 y

Positive strep culture or serologies (ASO, antiDNase B) Additive arthritis, nonmigratory No rash

IBD-associated arthritis

Peak onset of IBD diagnosis is in adolescence. ≤70% of patients with IBD develop arthritis.

Usually affects lower extremity, large joints. Can also affect the SI joints and spine. Less frequently involves smaller joints.

Clinical Pearls Prophylactic antibiotics for 1 y. Can discontinue at that point if no carditis seen on echocardiogram. Less responsive to NSAIDs. Colitis and arthritis may occur independently of each other. Treatment overlaps: TNF inhibitors treat both arthritis and IBD.

Abbreviations: ASO, antistreptolysin O titer; CBC, complete blood cell count; CRP, C-reactive protein; DNase, deoxyribonuclease; ESR, erythrocyte sedimentation rate; F, female; IBD, inflammatory bowel disease; M, male; NSAIDs, nonsteroidal anti-inflammatory drugs; SI, sacroiliac; TNF, tumor necrosis factor; WBC, white blood cell.

•• Enthesitis ——Inflammation at the site of attachment of a ligament, tendon, or joint capsule to bone.

——Commonly affected sites in children include the heel and foot, at the sites of

insertion of both the Achilles tendon (Figure 74-1) and plantar fascia, and the knee, at the sites of attachment of the quadriceps and patellar tendons. ——Can sometimes be mistaken for noninflammatory apophysitis ——Seen in both ERA and psoriatic JIA •• Tenosynovitis ——Inflammation of the tendon sheath ——The extensor tendons of the wrist, the flexor tendons of the fingers and toes, and the flexor and extensor tendons of the ankle are typical sites of tenosynovitis in JIA. ——Can occur in all types of JIA. Tenosynovitis of the ankle tendons is common in children with oligoarticular JIA. Up to one-third of patients with ankle swelling will have tenosynovitis but not JIA (Figures 74-2 and 74-3). •• The diagnosis of JIA is unlikely if a child has normal physical examination findings. •• Temporomandibular joint (TMJ) arthritis ——Up to 78% of patients with JIA have TMJ involvement. ——Those with oligoarticular JIA and RF-negative polyarticular JIA are at highest risk. ——TMJ arthritis is often asymptomatic.

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Figure 74-1. A, Ultrasonographic image shows normal Achilles enthesis (yellow line shows length of enthesis). B, Achilles enthesitis (color Doppler signal within tendon close to its insertion), with erosive changes to the calcaneus (yellow arrow) and thickening of the Achilles tendon (orange arrow). Figure 74-2. Ankle swelling in a 5-year-old girl with oligoarticular juvenile idiopathic arthritis. Note the fullness around the anterior ankle, suggestive of a tibiotalar effusion, as well as around the lateral malleolus, suggestive of tenosynovitis of the lateral ankle tendons.



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Figure 74-3. Tenosynovitis of the flexor tendons. A, Medial transverse view at the level of the medial malleolus shows an anechoic rim around the posterior tibial tendon and the flexor digitorum (yellow arrows) with positive color or power Doppler ultrasonography. B, Longitudinal ultrasonographic image of the same tendons. Note the wavy anechoic material above the posterior tibial tendon (yellow arrow).

——Physical examination findings can be very subtle and include

mandibular asymmetry with oral excursion (Figure 74-4) micrognathia ——Magnetic resonance imaging (MRI) with and without contrast is the reference standard for evaluating TMJ synovitis (Figure 74-5). ——Absent or subtle signs and symptoms can lead to delayed diagnosis, which may result in physical deformities (micrognathia, retrognathia causing the classic “birdface deformity”) as well as functional disability (including anterior open bite). „„Mild

„„Slight

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide Figure 74-4. Fourteen-year-old girl with rheumatoid factor–negative polyarticular juvenile idiopathic arthritis. Note the small, recessed mandible (A) as well as an asymmetric oral opening with right-sided deviation (B).

Figure 74-5. Contrast-enhanced temporomandibular joint (TMJ) magnetic resonance images of a 7-year-old boy with rheumatoid factor–negative polyarticular juvenile idiopathic arthritis. Note enhancement of the synovium (orange arrow), bone marrow edema (red arrow), and small mandibular erosion (yellow arrow) on the coronal view of the left TMJ (A) and on the sagittal view (B). The right side is normal, with no enhancement of the synovium, no bone marrow edema, and no cortical irregularity.

——Because there are no guidelines regarding imaging of the TMJ in JIA, many

pediatric rheumatology centers obtain an MRI of the TMJ on all patients with newly diagnosed JIA. •• Anterior uveitis ——Inflammation of the iris and ciliary body in the anterior uvea ——Risk factors include young age, female sex, positive antinuclear antibody (ANA) test result, and oligoarticular JIA. ——Clinical features „„Cloudy vision „„Floaters „„Haloes around lights at night



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Figure 74-6. Posterior synechiae in a 10-year-old girl with juvenile idiopathic arthritis and anterior chamber uveitis. Note the irregularly shaped pupil resulting from adhesions between the iris and the posterior lens. Note also the inflammatory cells in the anterior chamber, seen adjacent to the medial and lateral edges of the iris. Photo courtesy of Debra Goldstein, MD, Northwestern University.

——Young children often have difficulty identifying the symptoms of anterior

uveitis. Furthermore, anterior uveitis can be completely asymptomatic, especially in oligoarticular JIA and RF-negative polyarticular JIA. ——Referral to ophthalmology to screen for anterior uveitis is made at the time of diagnosis of JIA. Specific screening guidelines have been determined by the American Academy of Ophthalmology. They are stratified according to age, ANA status, and JIA subtype, with younger patients with ANA-positive oligoarticular JIA requiring more frequent screening. ——Symptomatic anterior uveitis, termed “acute anterior uveitis,” occurs in both psoriatic and ERA subtypes of JIA. „„Symptoms include ocular pain, redness, photophobia, and tearing. ——Uveitis is rare in RF-positive polyarticular JIA and systemic JIA. ——Sequelae of undiagnosed or undertreated uveitis include synechiae (adhesions between the iris and the lens or cornea, which result in an irregularly shaped pupil) (Figure 74-6), cataracts, glaucoma, and blindness.

Laboratory Testing

•• Laboratory studies have little utility in establishing the diagnosis of JIA; however, they are helpful in categorizing JIA subtypes.

•• Autoantibodies such as RF and anti-cyclic citrullinated peptide (anti-CCP) as

well as the genetic marker human leukocyte antigen (HLA)-B27 are helpful prognostic factors in JIA. ——Rheumatoid factor „„Less than 5% of children with JIA have a positive RF. „„The presence of RF is associated with a more aggressive disease phenotype, with more erosive disease and functional disability. These children often continue to have disease into adulthood, at which point they are usually reclassified as having rheumatoid arthritis. ——Anti-CCP „„May be associated with severe erosive disease in children with JIA, particularly when both anti-CCP and RF are present. ——ANA „„This test is used to stratify the risk of developing uveitis in patients with JIA. It is not associated with the clinical course of disease. However, it is

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also used to screen for systemic lupus erythematosus (SLE) because some patients with SLE can present with arthritis. ——HLA-B27 „„A genetic marker associated with ERA and juvenile ankylosing spondylitis. It can also occur in psoriasis, inflammatory bowel disease, reactive arthritis, and iritis.

Imaging

•• Radiographs may show characteristic findings of late-stage JIA, such as erosions,

osteopenia, joint space narrowing, and leg-length discrepancies (Figures 74-7 and 74-8). •• MRI or ultrasonography detect active synovitis as hyperemia within the synovial tissue. •• Bedside ultrasonography is a safe, noninvasive, inexpensive, expedient imaging modality for joints and tendons, and does not require contrast to visualize synovial inflammation (Figure 74-9). •• Certain joints (eg, TMJ, sacroiliac) are not conducive to ultrasonographic imaging and should be evaluated with MRI. Contrast-enhanced MRI is necessary to evaluate the TMJ. Noncontrast-enhanced MRI is sufficient to detect active sacroiliitis. Figure 74-7. Anteroposterior view of the hips and pelvis shows bilateral protrusio acetabuli (black arrows) with axial narrowing of the joint space (white arrows). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:778. Reproduced with permission.

Figure 74-8. Anteroposterior view of the wrist of a skeletally immature patient shows generalized osteopenia (black arrow). Note spontaneous fusion of the carpal bones to each other and to the distal radial epiphysis (white arrow) and the proximal metacarpals (arrowheads). From Johnson TR, Steinbach LS, eds. Essentials of Musculoskeletal Imaging. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2004:777. Reproduced with permission.



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Figure 74-9. A, Doppler ultrasonographic image of a pediatric hip. Note the distended joint capsule (orange outline) and hypertrophied hypoechoic synovium (orange triangle and extending proximally). Cartilage is anechoic (orange star) until it ossifies, and the growth plate is still open (orange arrow). Synovitis of the hip joint is evidenced by positive color Doppler (blue, red, yellow). B, Musculoskeletal ultrasonographic image of a pediatric hip. Note the distended capsule (orange arrows). The femoral neck to outer capsule distance (FNOC) is indicated by the 2 yellow plus signs. Normal FNOC distance varies by age, ranging from 4 mm in toddlers to 7 mm in adults.

Treatment

•• Treatment is determined by the number and type of joints involved and is best managed by a pediatric rheumatologist.

•• Arthritis involving 4 or fewer joints (oligoarticular JIA) ——Initial therapy is usually nonsteroidal anti-inflammatory drugs (NSAIDs) and/

or intra-articular corticosteroid injection with either triamcinolone acetonide or triamcinolone hexacetonide. ——Once the inflammation is under control, it is important to incorporate adjunctive physical therapy (PT) to regain range of motion and rebuild muscle mass. ——Ultrasound-guided joint injections have been shown to be more accurate and have a longer duration of action than blind joint injections. The wrist and ankle joints are composed of several smaller joints that usually do not communicate, so ultrasound guidance allows each of these joints to be targeted separately for better disease control (Figure 74-10).

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Pediatric Orthopaedics and Sports Injuries: A Quick Reference Guide

Figure 74-10. Ultrasound-guided intra-articular corticosteroid injection into the intercarpal joint (orange outline). The needle (arrow) is then re-angled and advanced to the radiocarpal joint (blue outline), so both injections can be performed with needle entry under the skin.

•• Arthritis involving more than 4 joints or refractory oligoarticular JIA ——Early aggressive therapy with biologic and nonbiologic disease-modifying anti-

rheumatic drugs (DMARDs) with or without oral steroids has been shown to induce an earlier and more sustained remission. „„Methotrexate and tumor necrosis factor (TNF) inhibitors are increasingly becoming the standard of care for first-line management of polyarticular JIA. „„TNF inhibitors are the first-line DMARD used to treat axial disease (spine and sacroiliac joints) that has not responded to conservative therapy with NSAIDs and PT. Nonbiologic DMARDs do not effectively treat axial disease. ——Other biologic DMARDs used to treat JIA should be prescribed and managed by a pediatric rheumatologist. ——Both biologic and nonbiologic DMARDs suppress the immune system, so patients on these medications cannot be administered live vaccines and should call their rheumatologist if they are febrile or have been diagnosed with an infection because they may need to hold their medication. ——Oral steroids should be used sparingly in JIA due to the systemic side effects. ——Oral steroids may be used for 3 reasons „„As part of early aggressive treatment protocols in polyarticular JIA „„As short-term “bridging therapy” in patients with a high burden of disease activity while awaiting their DMARDs to take clinical effect „„To suppress inflammation in systemic JIA (Figure 74-11) ——Uveitis is treated similarly to JIA, with biologic and nonbiologic DMARDs the standard of care for disease that is refractory to topical steroids. •• PT and occupational therapy ——Muscle atrophy, joint contractures, and leg-length discrepancies are among the most common complications of oligoarticular JIA.



Chapter 74: Juvenile Idiopathic Arthritis

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Figure 74-11. A and B, Salmon-colored evanescent rash typical of systemic juvenile idiopathic arthritis (JIA). Note the linear lesions on the arm (A). This is the Koebner phenomenon, a response to scratching that is often seen in systemic JIA.

„„PT

is crucial to help these children regain muscle strength and range of motion in the affected joints. „„PT includes strengthening and stretching exercises, gait reeducation training, joint protection strategies, massage therapy, encouragement, and emotional support. ——Deformities of the fingers and wrist are most commonly seen in polyarticular JIA (RF positive and RF negative) and include ulnar deviation of the wrist, boutonnière deformities, and fixed deformities of the wrist (often due to fusion of the carpal bones). „„Occupational therapy (OT) is important for helping these patients achieve a better quality of life, focusing on measures to improve self-care, productivity, and meaningful participation in activities of daily living. „„OT includes teaching patients adjustments that allow them to accomplish everyday tasks, such as tying their shoelaces or brushing their teeth.

Expected Outcomes/Prognosis

•• Early, aggressive therapy improves outcomes in children with JIA. Children who receive such treatment achieve remission earlier and stay in remission longer.

•• Sustained remission varies based on subtype; however, in general, up to two-thirds of patients with JIA continue to have disease activity in adulthood. ——Up to one-third of young adults with JIA continue to have a detectable degree of disability, and many continue to report growth disturbances. ——Oligoarticular JIA (persistent subtype) is associated with the most favorable prognosis. Up to 60% of these children attain long-standing remission into adulthood. ——RF-positive polyarticular JIA is associated with the least favorable prognosis, with most of these children requiring immunosuppressive therapy into adulthood. ——Data on the other subtypes are variable, but it is clear that most of these children do not experience sustained remission into adulthood.

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Prevention

•• There is no known primary prevention for JIA. •• For patients with arthritis, it is important to keep the joints mobile. Exercise,

strengthening, and stretching are important modalities, and this should be guided by a pediatric rheumatologist in conjunction with PT and OT. •• Immobilizing a joint is discouraged because this increases the likelihood of contracture and subsequent disability. •• Exercise in children with JIA has been shown to improve function, quality of life, and physical fitness level.

When to Refer

•• All children with a known or suspected diagnosis of JIA should be referred to a pediatric rheumatologist for further evaluation and workup.

Resources for Physicians and Families

•• Arthritis Foundation, juvenile arthritis web page (www.arthritis.org/juvenilearthritis) •• Creaky Joints (www.creakyjoints.org) •• Arthritis National Research Foundation, juvenile arthritis web page (https:// curearthritis.org/category/juvenile-arthritis-2/)

CHAPTER 75

Autoimmune Connective Tissue Diseases Overview

•• Genetic background as well as additional immunogenic, environmental, and

hormonal factors may influence the development of autoimmune connective tissue diseases (CTDs); however, the pathophysiologic processes of most autoimmune CTDs are not well understood. •• This chapter includes the most common autoimmune CTDs with musculoskeletal signs and symptoms.

Systemic Lupus Erythematosus INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Systemic lupus erythematosus (SLE) has an annual incidence of 0.3 to 0.9 per 100,000 children in the United States.

•• Fifteen percent to 20% of all cases present during the first 2 decades after birth, with peak incidence during early adolescence.

•• Females are more often affected than males ——8 to 9:1 (pubertal and postpubertal) ——4 to 5:1 (prepubertal) •• SLE is more common among Black, Latino, Asian, and Indigenous North American persons than white persons.

SIGNS AND SYMPTOMS

•• Thirty percent of pediatric patients present with the 4 early features ——Fatigue ——Low grade, persistent fever (the most common sign of SLE) ——Arthralgias ——Malar rash: erythematous patch across the nasal bridge, sparing the nasolabial folds

„„Malar

rash may not be as easily seen in those with darker skin pigmentation

•• Some will have scaly, discoid lesions throughout the body that appear similar to the rash of a drug reaction.

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Box 75-1. Differential Diagnosis of Systemic Lupus Erythematosus • Bacterial or viral infection — Epstein-Barr virus — Parvovirus B19 • Malignancy • Autoinflammatory syndrome • Juvenile idiopathic arthritis • Chronic granulomatous disease • Sarcoidosis • Post-streptococcal glomerulonephritis • Antineutrophil cytoplasmic antibody (ANCA) positive vasculitis • Pauci-immune glomerulonephritis • Kikuchi-Fujimoto disease • Castleman disease • Drug-induced systemic lupus erythematosus, secondary to exposure — Phenytoin — Carbamazepine — Isoniazid — Minocycline

DIFFERENTIAL DIAGNOSIS

•• See Box 75-1. DIAGNOSTIC CONSIDERATIONS

•• Diagnosis of SLE is established clinically based on new criteria published in 2019

by the American College of Rheumatology (ACR) and the European Alliance of Associations for Rheumatology (EULAR [formerly the European League against Rheumatism]) (Tables 75-1 and 75-2): ——The ACR/EULAR classification requires a positive antinuclear antibody (ANA) titer of at least 1:80 on HEp-2 cells or an equivalent positive test result. ——If there is a positive ANA test result or previous history of a positive test result, then 22 “additive weighted” classification criteria are considered to determine the diagnosis. „„Seven clinical domains: constitutional, hematological, neuropsychiatric, mucocutaneous, serosal, musculoskeletal, renal „„Three immunologic domains: antiphospholipid antibodies, complement proteins, SLE-specific antibodies. „„Each criterion is assigned points, ranging from 2 to 10. „„Patients with at least 1 clinical criterion and 10 or more points are classified as having SLE. ——The EULAR/ACR criteria have sensitivity of 96.1% and specificity of 93.4%.



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Table 75-1. European Alliance of Associations for Rheumatology/ American College of Rheumatology Clinical Domains and Criteria for Systemic Lupus Erythematosusa Domain

Criteria

Points

Constitutional

Fever

2

Hematological

Leukopenia

3

Thrombocytopenia

4

Autoimmune hemolysis

4

Delirium

2

Psychosis

3

Seizure

5

Non-scarring alopecia

2

Oral ulcers

2

Subacute cutaneous or discoid lupus

4

Acute cutaneous lupus

6

Pleural or pericardial effusion

5

Neuropsychiatric

Mucocutaneous

Serosal

Acute pericarditis

6

Musculoskeletal

Joint involvement

6

Renal

Proteinuria > 0.5 g/24 h

4

Renal biopsy class II or V lupus nephritis

8

Renal biopsy class III or IV lupus nephritis

10

A criterion should not be counted if there is a more likely explanation for it than systemic lupus erythematosus. Occurrence of a criterion on at least one occasion is sufficient. Criteria need not occur simultaneously. Within each domain, only the highest-weighted criterion is counted toward the total score. a

Reprinted with permission from Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Arthritis Rheumatol. 2019;17(9):1400–1412.

•• Laboratory studies used in the diagnosis of SLE are as follows: CBC with

differential, serum creatinine, urinalysis with microscopy, ESR or CRP level, complement levels, liver function tests, creatine kinase assay, spot protein/spot creatinine ratio, autoantibody tests

TREATMENT

•• Early initiation of treatment improves disease outcome; therefore, these children

should be promptly referred to a pediatric rheumatologist when appropriate screening suggests SLE. •• Mild disease can be managed with high-dose nonsteroidal anti-inflammatory drugs (ibuprofen and naproxen). •• Hydroxychloroquine has been shown to be effective for mild to moderate flares of joint swelling and skin rashes.

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Table 75-2. European Alliance of Associations for Rheumatology/ American College of Rheumatology Immunologic Domains and Criteria for Systemic Lupus Erythematosusa Domain

Criteria

Points

Antiphospholipid antibodies

Anti-cardiolipin antibodies OR

2

Anti-β2GP1 antibodies OR Lupus anticoagulant Complement proteins SLE-specific antibodies

Low C3 or low C4

3

Low C3 and low C4

4

Anti-dsDNA antibody OR

6

Anti-Smith antibody A criterion should not be counted if there is a more likely explanation for it than systemic lupus erythematosus (SLE). Occurrence of a criterion on at least one occasion is sufficient. Criteria need not occur simultaneously. Within each domain, only the highest-weighted criterion is counted toward the total score. a

Reprinted with permission from Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Arthritis Rheumatol. 2019;17(9):1400–1412.

•• Severe disease involving major organs or lupus crisis requires immunosuppression.

Corticosteroids are first-line therapy, and low doses can suppress mild to moderate symptoms; however, controversy exists regarding timing and introduction because of toxic side effects. •• Complex disease including severe arthralgias, pancytopenia, hypercholesterolemia, acute renal disease, and hypertension requires additional treatment and frequent monitoring. EXPECTED OUTCOMES/PROGNOSIS

•• Ten-year survival rate has improved from 30% in 1970 to close to 90% with current management protocols.

•• Most patients endure chronic “lupus crises,” exacerbation periods that can involve acute renal failure and malignant hypertension.

•• Infantile SLE (onset at younger than 2 years) is associated with the most severe course.

•• Less than 5% of pediatric cases experience mild disease. •• Laboratory markers reporting ribosomal protein (anti-P) and anti-ds DNA indicate a poor prognosis.

•• Lupus nephritis is the strongest predictor of poor outcome. Forty percent of

patients are diagnosed with nephritis at onset, while 60% to 70% manifest nephritis during the course of the disease. Patients with anti-ds DNA and decreasing complement levels are more likely to have renal involvement. •• Systemic comorbidities include neurocognitive dysfunction, pulmonary manifestations, and cardiovascular complications, including pericarditis, endocarditis, and accelerated atherosclerosis. •• Corticosteroid therapy for chronic disease combined with reduced sun exposure has resulted in decreased adolescent bone mass and increased risk for osteopenia and osteoporosis.



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PREVENTION

•• Pediatricians should educate patients with autoimmune CTDs to avoid sun

exposure, use sunscreen, and wear clothing that is UV protectant to decrease the risk of photoexacerbation. •• Patients should also be educated to avoid tobacco, consume a low-fat diet, and engage in regular physical activity to increase bone density and decrease the risk for accelerated atherosclerosis. •• Expectant mothers with autoimmune CTDs should be educated and followed regularly throughout pregnancy, as this population has been identified to have a higher incidence of preeclampsia, preterm deliveries, and postpartum renal failure. Infants born to mothers with autoimmune CTDs may be at increased risk for autoimmune CTD secondary to passive transfer of autoantibody across the placenta. WHEN TO REFER

•• Suspected cases of SLE should be promptly referred to a pediatric rheumatologist.

•• Early referral for renal and cerebral lupus allows aggressive therapeutic approach

and leads to decreased morbidity. Ten-year survival rate for pediatric renal disease approaches 100% secondary to early referral and frequent monitoring of renal function.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• Lupus Foundation of America provides resources to patients with lupus, including a directory of local chapters and a calendar of upcoming events (www.lupus.org).

Juvenile Dermatomyositis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Juvenile dermatomyositis (JDM) is a rare systemic vasculopathy, primarily involving the skin and muscle.

•• Children who present with symptoms of JDM without muscle involvement for more than 6 months are diagnosed with amyopathic dermatomyositis.

•• Age of onset presents in biphasic peaks at 5 to 9 years and 11 to 14 years. Mean age at diagnosis is 10.8 years.

•• Girls are affected more often than boys. •• White and Black children are affected more frequently than Hispanic children. •• Onset is frequently associated with infectious agents, particularly coxsackievirus and Borrelia burgdorferi.

SIGNS AND SYMPTOMS

•• Rashes are the most common initial finding. ——Photoexacerbated, diffuse, nonspecific dermatitis that desquamates or ulcerates is the typical skin rash of JDM.

——Gottron papules are shiny, well-circumscribed, violaceous papules that scale,

characteristically located on the knuckles of the proximal interphalangeal joints and metacarpophalangeal joints.

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——Heliotropic rash pathognomonic to JDM is a violaceous, dusky macular erythema on the upper eyelids.

——Poikiloderma presents as a speckled thinning of skin that is initially hyperpigmented, then becomes hypopigmented.

——Periungual telangiectasias

•• Muscle weakness develops in nearly all patients with JDM. ——Severity of weakness correlates to duration of symptoms prior to diagnosis and treatment.

——Proximal muscle weakness presents differently by age group. „„Infants

and toddlers may easily fatigue or appear listless. children will have a slow, waddling gate. „„Older children and adolescents may have trouble rising from a chair or climbing stairs. ——Gowers sign (see Figure 4-3 in Chapter 4, Physical Examination) is pathognomonic for proximal muscle weakness. The child, when lying supine, will first roll prone, and will then use the hands to push off the shins and thighs to stand. ——Progressive muscle weakness may present as dystonia, dysphagia, and diaphragmatic weakness during final stages. „„Young

DIFFERENTIAL DIAGNOSIS

•• See Box 75-2. Box 75-2. Differential Diagnosis of Juvenile Dermatomyositis Weakness alone • Muscular dystrophies — Limb-girdle dystrophy — Dystrophinopathies — Facioscapulohumeral dystrophy — Other dystrophies • Metabolic myopathies — Glycogen storage disease — Lipid storage disease — Mitochondrial myopathies • Endocrine myopathies — Hypothyroidism — Hyperthyroidism — Cushing syndrome (endogenous or exogenous steroid myopathy) — Diabetes mellitus • Drug-induced myopathies — Statins — Interferon α — Glucocorticoids — Hydroxychloroquine — Diuretics — Amphotericin B — Anesthetics



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Box 75-2. Differential Diagnosis of Juvenile Dermatomyositis, continued — Growth hormone — Cimetidine — Vincristine • Neuromuscular transmission disorders — Myasthenia gravis • Motor neuron disorder — Spinal muscular atrophy Weakness with or without rash • Viral — Enterovirus — Influenza — Coxsackievirus — Echovirus — Parvovirus — Poliovirus — Hepatitis B — Human T-lymphotropic virus 1 • Bacterial and parasitic organisms — Staphylococci — Streptococci — Toxoplasmosis species — Trichinosis species — Lyme borreliosis • Rheumatologic diseases — Systemic lupus erythematosus — Scleroderma — Juvenile idiopathic arthritis — Mixed connective tissue disease — Idiopathic vasculitis • Inflammatory diseases — Inflammatory bowel disease — Celiac disease • Rash without weakness — Psoriasis — Eczema — Contact dermatitis

DIAGNOSTIC CONSIDERATIONS

•• Bohan criteria are the diagnostic criteria for JDM (Box 75-3). •• Magnetic resonance imaging (MRI) has also been used to identify bilateral,

symmetrical, patchy areas of disease. The signal intensity of T2-weighted images directly correlates with degree of muscle involvement. Images can guide muscle biopsy. •• Muscle biopsy can confirm the diagnosis of JDM when uncertain clinically. Biopsy will show necrosis of type I and II fibers, atrophy in perifascicular distribution, large sarcolemmal nuclei, phagocytosis, and regeneration with basophilia.

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Box 75-3. Diagnostic Criteria for Juvenile Dermatomyositisa Major criteria 1. Classic skin changes a. Heliotropic rash b. Gottron papules 2. Progressive symmetric weakness of proximal limb girdle and anterior neck flexor muscles 3. Biopsy evidence of inflammatory myositis 4. Elevation of serum muscle enzymes levels (eg, creatine kinase) 5. Typical electromyographic evidence of myositis and denervation Minor criteria 1. Macular violaceous erythema (with or without associated scale, hyperkeratosis, pigmentary change, or ataxia-telangiectasia) involving a. Scalp or anterior hairline b. Malar eminence of face, forehead, or chin V-area of neck or upper chest c. Nape of neck or posterior aspect of shoulders (shawl sign) d. Extensor surfaces of arms or forearms e. Linear streaking overlying extensor tendons on the dorsal aspects of the hands f. Periungual areas g. Lateral surface of thighs or hips (holster sign) h. Medial malleoli 2. Periungual nail fold telangiectasia or cuticular hemorrhage-infarct with or without dystrophic cuticles 3. Poikiloderma 4. Cutaneous ulcers 5. Pruritis 6. Mechanic’s hand lesions 7. Cutaneous calcinosis a Juvenile dermatomyositis (JDM) requires criterion 1a or 1b and 3 of the 4 remaining criteria. Diagnosis of JDM requires 1a and 1b or 2 minor criteria and 1a or 1b. Involvement of each region qualifies as a single minor criterion.

Derived from Brown VE, Pilkington CA, Feldman BM, Davidson JE. An international consensus survey of the diagnostic criteria for juvenile dermatomyositis (JDM). Rheumatol. 2006;45(8):990–993; Bohan A, Peter JB. Polymyositis and dermatomyositis (second of 2 parts). N Engl J Med. 1975;292:403–407.

•• Electromyography (EMG) will display short, small, polyphasic fibrillations and

sharp waves in bizarre, high-frequency discharges that repeat. Due to the invasive nature of the test, EMG should only be used when the diagnosis is uncertain. •• Elevations of one or more serum muscle enzymes, including creatine kinase, aldolase, aspartate transaminase, lactate dehydrogenase, von Willebrand factor, and neopterin. However, normal enzyme levels do not exclude the diagnosis of JDM, and normal levels may coexist with clinical weakness. TREATMENT

•• Mild to moderate disease ——Referral to pediatric rheumatologist will expedite initiation of high dose

prednisone, followed by rapid taper once there is clinical improvement and serologic muscle enzyme decline. Suppressive steroid therapy 6 to 12 months after diagnosis decreases relapse rate. •• Recalcitrant disease or relapse often requires adjuvant therapy.



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•• Methotrexate is often introduced to maintain remission. •• Frequent manual muscle testing throughout disease management has been shown to be a sensitive measurement to follow disease progression or improvement.

EXPECTED OUTCOMES/PROGNOSIS

•• Prior to systemic corticosteroid treatment, one-third of patients diagnosed with JDM died from aspiration pneumonia or interstitial lung disease.

•• Long-term prognosis has improved secondary to aggressive corticosteroid treatment and methotrexate therapy.

•• One-third of patients experience a monocyclic course of disease, defined as a 2-year symptomatic period followed by permanent remission.

•• Twenty-five percent of patients have chronic relapsing JDM. These children

develop progressive muscular debilitation with calcinosis, which is the hallmark of disabling disease. Respiratory and cardiac failure is the leading cause of mortality for these severe cases. •• Amyopathic dermatomyositis has a benign course without severe complications. •• When present, laboratory markers can be prognostic. Anti-Jo1–positive patients are treatment resistant with interstitial lung disease and debilitating arthritis. Those positive for anti-M2 have mild disease that is easily controlled with lowdose corticosteroids. PREVENTION

•• See section “Systemic Lupus Erythematosus” earlier in this chapter. WHEN TO REFER

•• Aggressive management improves patient outcomes, so early referral is encouraged.

•• Long-standing active disease and delay in appropriate treatment or short steroid therapy leads to severe complications.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• The Cure JM Foundation is a nonprofit organization that works to raise

awareness of juvenile myositis, JDM, and juvenile polymyositis (https://www. curejm.org/).

Juvenile Localized Scleroderma INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Juvenile localized scleroderma (JLS) is a rare CTD involving fibrosis of the skin and underlying subcutaneous tissue, bone, and viscera.

•• Localized scleroderma can be divided into 3 different subtypes: morphea, linear scleroderma, and en coup de sabre (facial linear scleroderma).

•• Morphea is the most common pediatric variant of the disease. •• Fifty percent of patients with linear scleroderma and 25% of patients with morphea present in the second decade after birth.

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•• Females are affected slightly more than males (1.5:1). •• No familial or ethnic predisposition has been identified. SIGNS AND SYMPTOMS

•• Morphea ——Round, indurated, asymmetric skin lesions on the trunk with clear, welldemarcated borders and a white center.

——Skin will increase in thickness 1- to 3-fold at the site of the lesion.

•• Linear scleroderma ——Linear streaks on the extremities in a similar appearance to morphea. ——Patients will report tightness during movement if lesions overlie a joint. ——Premature growth arrest may occur if lesions overlie an epiphyseal growth plate.

•• En coup de sabre ——Specific morphology involving the parietal region of the head, with secondary hemiparalysis, refractory headaches, and seizures.

——Parry-Romberg syndrome, or progressive facial hemiatrophy, targets the unilateral face, causing progressive atrophy to skin, subcutaneous tissues, and bones.

——When the orbit is involved, iritis, cataracts, and papillary edema may occur. ——These variants most commonly present during the first decade after birth. DIFFERENTIAL DIAGNOSIS

•• See Box 75-4. Box 75-4. Differential Diagnosis for Juvenile Localized Scleroderma Morphea • Graft-versus-host disease • Phenylketonuria • Borrelia burgdorferi • Acquired port-wine stains • Granuloma annulare • Fixed drug eruption • Dermatophyte infection • Lichen simplex chronicus • Lichen sclerosus et atrophicus • Eosinophilic cellulitis • Dermatofibrosarcoma protuberans • Atrophoderma • Subcutaneous fat atrophy after intramuscular injection — Corticosteroids — Vaccinations — Vitamin K



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Box 75-4. Differential Diagnosis for Juvenile Localized Scleroderma, continued Linear sclerosis • Acrodermatitis chronica atrophicans • Eosinophilic fasciitis • Connective tissue nevus • Necrobiosis lipoidica • Erythema nodosum

DIAGNOSTIC CONSIDERATIONS

•• Diagnosis is determined clinically. •• Twenty-five percent to 50% are ANA- and rheumatoid factor-positive, but

laboratory evaluation is not recommended, as no markers are diagnostic for JLS.

•• Computed tomography or MRI may identify underlying abnormalities, but such imaging is rarely needed for diagnosis.

TREATMENT

•• Patients should be ideally referred to a multidisciplinary team that includes

both pediatric rheumatology and pediatric dermatology to guide treatments of moisturizing agents, topical glucocorticoids, and methotrexate. •• Physical therapy helps to prevent contractures when lesions involve joints. •• Surgical treatment for orthopaedic manifestations or facial asymmetry may be required in poorly controlled disease once the child’s growth is complete and the disease is no longer active. EXPECTED OUTCOMES/PROGNOSIS

•• Life expectancy of children with JLS is normal. •• Most plaques resolve within months to years without significant comorbidity. •• Positive single-stranded anti-DNA antibodies may indicate a prolonged disease course.

•• Of children with JLS, 1% to 5% will develop juvenile systemic sclerosis (JSSc) (see Juvenile Systemic Sclerosis section later in this chapter).

•• Patients with en coup de sabre are prone to refractory seizures. Fifteen percent of these children will experience recurrent flares.

•• JLS often remains unrecognized for months to years after initial presentation.

Diagnostic delay and late initiation of treatment increase the risk of functional and aesthetic disability. Early referral to pediatric rheumatology is warranted to expedite treatment.

PREVENTION

•• See the section “Systemic Lupus Erythematosus” earlier in this chapter.

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WHEN TO REFER

•• Referral to pediatric rheumatologist or dermatologist for tissue biopsy allows for early identification of disease.

•• Children with lesions on the head and with developing asymmetry should be referred early to a pediatric rheumatologist.

RESOURCES FOR PHYSICIANS AND FAMILIES

•• The Juvenile Scleroderma Network is a volunteer organization of parents,

health professionals, and volunteers who provide support, information, and educational materials for families and children affected by the disease (www. jsdn.org).

Juvenile Systemic Sclerosis INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• Juvenile systemic sclerosis is a rare disease of childhood presenting as progressive contractures and skin ulceration.

•• JSSc is divided into 2 subtypes. Twenty percent of patients have diffuse JSSc, and 80% have limited JSSc.

SIGNS AND SYMPTOMS

•• Skin involvement of the bilateral distal extremities with proximal advancement to the trunk initially presents as painless swelling. ——Raynaud phenomenon of the fingers is common, occurring in 90% of patients. ——Skin swelling gradually becomes fibrotic. Facial expressions turn flaccid as the disease progresses to involve the chest, neck, and head. •• Joint contracture secondary to subcutaneous fibrosis has been described in 79% of children with JSSc. Joint restriction may also result from subcutaneous calcification and tenosynovitis. •• CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia) is associated with limited scleroderma and is extremely rare among pediatric patients. •• Diffuse or pansclerotic disease may lead to lung fibrosis, restrictive cardiomyopathy, and esophageal dysmotility as vital organs are affected. DIFFERENTIAL DIAGNOSIS

•• See Box 75-5. DIAGNOSTIC CONSIDERATIONS

•• A collaborative committee of the Pediatric Rheumatology European Society,

ACR, and EULAR developed classification criteria with 90% sensitivity and 96% specificity when applied to the pediatric age group (Box 75-6).



Chapter 75: Autoimmune Connective Tissue Diseases

Box 75-5. Differential Diagnosis for Juvenile Systemic Sclerosis • Systemic lupus erythematosus • Scleroderma • Sarcoidosis • Phenylketonuria • Chronic graft-versus-host disease • Mixed connective tissue disease • Dermatomyositis • Eosinophilic fasciitis • Panniculitis • Lipodystrophy • Cutaneous borreliosis

Box 75-6. Diagnostic Criteria for Juvenile Systemic Sclerosis Major criterion 1. Proximal sclerosis/induration of skin Minor criteria 1. Cutaneous sclerodactyly 2. Peripheral vasculature • Raynaud phenomenon • Nailfold capillary abnormalities • Digital tip ulcers 3. Gastrointestinal • Dysphagia • Gastroesophageal reflux 4. Cardiac • Arrhythmias • Heart failure 5. Renal • Renal crisis • New-onset arterial hypertension 6. Respiratory • Pulmonary fibrosis (HRCT/radiography) • Decreased DLCO • Pulmonary arterial hypertension 7. Neurologic • Neuropathy • Carpal tunnel syndrome 8. Musculoskeletal • Tendon friction rubs • Myositis • Arthritis

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Box 75-6. Diagnostic Criteria for Juvenile Systemic Sclerosis, continued 9. Serologic • Antinuclear antibodies • SSc-selective autoantibodies (anticentromere, antitopoisomerase I [Scl-70], antifibrillin, anti-PM-Scl, antifibrillarin, or anti-RNA polymerase I or III) A patient younger than 16 years meets classification criteria for JSSc if 1 major and at least 2 of the 20 minor criteria are present. Abbreviations: DLco, diffusing capacity for carbon monoxide; HRCT, high-resolution computed tomography; JSSc, juvenile systemic sclerosis; SSc, systemic sclerosis. Adapted from Zulian F, Woo P, Athreya BH, et al. The Pediatric Rheumatology/American College of Rheumatology/European League against Rheumatism provisional classification criteria for juvenile systemic sclerosis. Arthritis Rhuem. 2007;57(2):203–212. Reprinted by permission.

•• Unlike other autoimmune CTDs, acute phase reactants such as C-reactive protein and erythrocyte sedimentation rate are rarely elevated.

•• 95% of patients are ANA positive, and 20% to 40% of patients with diffuse JSSc are positive for anti-Scl 70 (antitopoisomerase-1).

TREATMENT

•• There is no reference standard for treating JSSc. •• Methotrexate and calcitriol have been described to treat local systemic sclerosis; however, no controlled study exists for the pediatric disease.

•• Diffuse disease has been treated with aggressive therapy combinations, but no protocol has been established for the pediatric population.

•• Autologous stem cell transplantation has also been described to treat patients with JSSc who have progressive lung involvement.

EXPECTED OUTCOMES/PROGNOSIS

•• JSSc has a better prognosis than adult-onset systemic sclerosis. Ten-year survival rate approaches 80% to 87%.

•• Joint contractures lead to severe disability and tightness. •• Mortality, although rare, is secondary to myocardial fibrosis, cardiac arrhythmias, renal failure, pulmonary systemic involvement, or interstitial lung disease.

•• Acute hypertensive encephalopathy is typically fatal when it presents late in the disease course.

PREVENTION

•• Same as for SLE. WHEN TO REFER

•• Same as for JLS. RESOURCES FOR PHYSICIANS AND FAMILIES

•• Juvenile Scleroderma Network (www.jsdn.org)

CHAPTER 76

Inherited Connective Tissue Diseases Marfan Syndrome INTRODUCTION/ETIOLOGY/EPIDEMIOLOGY

•• The estimated prevalence of Marfan syndrome (MFS) is 1 in 5,000 to 1 in 10,000 individuals.

•• MFS is an autosomal-dominant condition with high penetrance and variable expressivity, affecting cardiovascular, ocular, and skeletal systems.

•• A pathogenic variant in the gene FBN1 results in a reduction in the functional

amount of fibrillin-1 protein, which is one of the building blocks for the microtubules that provide strength and flexibility to connective tissues. •• Approximately 25% of individuals present without family history, suggesting a de novo mutation. SIGNS AND SYMPTOMS

•• Tall, thin body habitus •• Arachnodactyly (thin extremities with disproportionately long distal extremities)

•• Joint hypermobility (see Table 4-1 and Figure 4-2 in Chapter 4, Physical Examination)

•• Pectus deformities (of the carinatum or excavatum) •• Scoliosis •• Kyphosis •• Narrowed, high-arched palate with dental crowding •• Skin striae distensae without rapid change in body shape or weight •• Myopia and astigmatism •• Recurrent spontaneous pneumothorax should also raise suspicion of MFS. DIFFERENTIAL DIAGNOSIS

•• See Box 76–1.

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Box 76-1. Differential Diagnosis of Marfan Syndrome For a tall, young person with marfanoid body habitus • Beals syndrome (ie, congenital contractual arachnodactyly) • Ehlers-Danlos syndrome (vascular, valvular, kyphoscoliotic types) • Familial thoracic aortic aneurysms and dissection syndromes (also with bicuspid valve or patent ductus arteriosus) • Fragile X syndrome • Klinefelter syndrome • Homocystinuria • Lujan-Fryns syndrome • MASS phenotype: myopia, mitral valve prolapse, borderline and nonprogressive aortic enlargement, and nonspecific skin and skeletal features • Mitral valve prolapse syndrome • Shprintzen-Goldberg syndrome • Stickler syndrome Other disorders that overlap with the clinical findings of Marfan syndrome • Arterial tortuosity syndrome • Familial ectopia lentis • Loeys-Dietz syndrome • Weill-Marchesani syndrome

Box 76-2. Revised Ghent Criteria for Diagnosis of Marfan Syndrome and Related Conditions Criteria to diagnose MFS for an individual in the absence of family history 1. Aortic roota (Z score ≥ 2) and ectopia lentis 2. Aortic root (Z score ≥ 2) and FBN1 mutation 3. Aortic root (Z score ≥ 2) and systemic score ≥ 7 points 4. Ectopia lentis and FBN1 associated with previously identified aortic root aneurysm Criteria to diagnose MFS for an individual with positive family history (individual independently diagnosed according to above criteria) 1. Ectopia lentis 2. Systemic score ≥ 7 points 3. Aortic root (Z score ≥ 2 for individual ≥ 20 y, ≥ 3 for individual