Nelson Textbook of Pediatrics [20 ed.] 9781455775668, 9780323353076

Table of contents :
Introduction
Copyright page
Dedication
Contributors
Preface
Videos
Part I: The Field of Pediatrics
Chapter 1: Overview of Pediatrics
Vital Statistics About Child Health (See Also Chapter 1.1)
The Changing Pediatric World
Morbidities among Children
Situational Special-Risk Populations
Children in Urban Settings
Children in Poverty
Children of Immigrants and Racial Minority Groups Including U.S. Native Americans
Children of Migrant Workers
Homeless Children
Runaway and Thrown-Away Children
Children Directly Affected By War and Other Forms of Direct Violence
Inherent Strengths in Vulnerable Children and Interventions
Global Warming
The Challenge to Pediatricians
Patterns of Healthcare
Planning and Implementing a System of Care
Health Services for At-Risk Populations
Evaluation of Healthcare
The Information Explosion of the 21St Century
Organization of the Profession and the Growth of Specialization
Bibliography
1.1 Innovations in Addressing Child Health and Survival in Low-Income Settings
Global Burden and Mortality Trends
Causes of Newborn and Child Deaths
Understanding Social Determinants and Barriers for Care
Evidence-Based Interventions and Innovations to Address Inequities
Community Health Workers for Newborn and Child Health
The Role of Information Technology and mHealth Platforms
Cash Transfers to Reduce Poverty Barriers and Improve Child Health
Other Technologies and Innovations
Bibliography
Chapter 2: Quality and Safety in Healthcare for Children
The Need for Quality Improvement
What is Quality?
Definitions of Quality-Related Terms
Framework for Quality
Developing Guidelines to Establish the Standard for Quality
Improving Quality
Model for Improvement
Six Sigma
LEAN
Management Sciences
Measuring Quality
Analyzing Quality Data
Comparing and Reporting Quality
Quality and Patient Safety
Medical Errors in Children’s Healthcare
Key Issues in Patient Safety
Systems Approach
Developing a Culture of Safety
Communication.
Teamwork and Authority Gradients.
Human Factors Engineering.
Reliability.
Implications of the U.S. Healthcare Reform for Quality
The Evolution of Quality to Outcomes to Value
Information Technology and Quality Improvement
Quality Improvement or Research?
Expanding Individual Quality Improvement Initiatives to Scale
International Efforts for Quality Improvement
Bibliography
Chapter 3: Ethics in Pediatric Care
Assent and Parental Permission
Treatment of Critically Ill Children
Transitioning the Goals of Care
Withholding and Withdrawing Life-Sustaining Treatment
Advance Directives.
Artificial Hydration and Nutrition.
The Doctrine of Double Effect.
Care of Disabled Newborns
Declaring Death and Organ Donation
Death by Neurologic Criteria
Circulatory Death
Religious or Cultural Objections to Treatment
Pediatric Ethics Committees and Ethics Consultation
Newborn Screening and Genetic Testing
Adolescent Healthcare
Adolescent Assent and Consent
Chronic Illness
Decisions in Terminally Ill Adolescents
Research
Balancing Maternal and Fetal Interests
Justice and Pediatric Ethics
Emerging Issues
Bibliography
Chapter 4: Cultural Issues in Pediatric Care
The Importance of Culture to Medical Practice
Newly Recognized Cultural Groups
The Culture of the Medical Profession
Cultural Competence
Cultural Awareness
Cultural Knowledge
Cultural Skill
Cultural Encounters
Cultural Desire
Bibliography
Chapter 5: Maximizing Children’s Health: Screening, Anticipatory Guidance, and Counseling
Periodicity
Guidelines
Tasks of Well-Child Care
Infancy and Early Childhood
Middle Childhood and Adolescence
Office Intervention for Behavioral and Mental Health Issues
Strength-Based Approaches and Framework
Office System Change for Quality Improvement
Evidence
Caring for the Child and Youth in the Context of the Family and Community
Bibliography
5.1 Injury Control
Injury Control (Formerly Called Accident Prevention)
Scope of the Problem
Mortality
Nonfatal Injuries
Global Child Injuries
Principles of Injury Control
Risk Factors for Childhood Injuries
Age
Gender
Race and Ethnicity
Socioeconomic Status
Rural–Urban Location
Environment
Mechanisms of Injury
Motor Vehicle Injuries
Occupants
Teenage Drivers
All-Terrain Vehicles.
Bicycle Injuries.
Pedestrian Injuries.
Ski- and Snowboard-Related Head Injuries.
Fire- and Burn-Related Injuries.
Poisoning.
Drowning.
Traumatic Brain Injury.
Firearm Injuries.
Falls.
Violent Behavior and Aggression.
Psychosocial Consequences of Injuries
Bibliography
Part II: Growth, Development, and Behavior
Chapter 6: Overview and Assessment of Variability
Biopsychosocial Model and Ecobiodevelopmental Framework: Models of Development
Biologic Influences
Psychologic Influences: Attachment and Contingency
Social Factors: Family Systems and the Ecologic Model
Unifying Concepts: The Transactional Model, Risk, and Resilience
Developmental Domains and Theories of Emotion and Cognition
Psychoanalytic Theories
Cognitive Theories
Behavioral Theory
Theories Commonly Employed in Behavioral Interventions
Statistics Used in Describing Growth and Development
Bibliography
Chapter 7: Cognitive Development: Domains and Theories
Methodologies
Physical Knowledge Development
Social Knowledge Development
Theories of Cognitive Development
Bibliography
7.1 The Reggio Emilia Educational Approach and Child Development and Learning
The Emotional Component
The Ethical Component
The Aesthetic Component
Pedagogic Thinking: Core Concepts Around 3 Major Areas
The Image of the Child
The Image of the Educator
The Image of the Contextual Community
The Developmental Theories of Greenspan, Vygotsky, and Malaguzzi
Greenspan on Well-Being and the Sense of Self
Vygotsky and the Reggio Emilia Approach
Reggio Approach and Relationships with Parents
Bibliography
Chapter 8: Assessment of Fetal Growth and Development
Somatic Development
Embryonic Period
Fetal Period
Neurologic Development
Behavioral Development
Psychologic Changes in Parents
Threats to Fetal Development
Bibliography
Chapter 9: The Newborn
Parental Role in Mother–Infant Attachment
Prenatal Factors
Peripartum and Postpartum Influences
The Infant’s Role in Mother–Infant Attachment
Physical Examination
Interactional Abilities
Modulation of Arousal
Behavioral States
Mutual Regulation
Implications for the Pediatrician
Optimal Practices
Assessing Parent–Infant Interactions
Teaching About Individual Competencies
Bibliography
Chapter 10: The First Year
Age 0-2 Months
Physical Development
Cognitive Development
Emotional Development
Implications for Parents and Pediatricians
Age 2-6 Months
Physical Development
Cognitive Development
Emotional Development and Communication
Implications for Parents and Pediatricians
Age 6-12 Months
Physical Development
Cognitive Development
Emotional Development
Communication
Implications for Parents and Pediatricians
Bibliography
Chapter 11: The Second Year
Age 12-18 Months
Physical Development
Cognitive Development
Emotional Development
Linguistic Development
Implications for Parents and Pediatricians
Age 18-24 Months
Physical Development
Cognitive Development
Emotional Development
Linguistic Development
Implications for Parents and Pediatricians
Bibliography
Chapter 12: The Preschool Years
Structural Development of the Brain
Physical Development
Implications for Parents and Pediatricians
Language, Cognition, and Play
Language
Cognition
Play
Implications for Parents and Pediatricians
Emotional and Moral Development
Implications for Parents and Pediatricians
Bibliography
Chapter 13: Middle Childhood
Physical Development
Implications for Parents and Pediatricians
Cognitive Development
Implications for Parents and Pediatricians
Social, Emotional, and Moral Development
Social and Emotional Development
Moral Development
Implications for Parents and Pediatricians
Bibliography
Chapter 14: Adolescence
Chapter 15: Assessment of Growth
Procedures for Accurate Measurement
Derivation and Interpretation of Growth Charts
Analysis of Growth Patterns
Other Indices of Growth
Body Proportions
Skeletal Maturation
Dental Development
Bibliography
Chapter 16: Developmental-Behavioral Screening and Surveillance
Measurable Delays
Psychosocial Risk
Early Intervention Services and Eligibility Criteria
Primary Care Challenges in Early Detection
Policies of the American Academy of Pediatrics
Overcoming Logistical Challenges in Primary Care Early Detection and Intervention
Evidence-Based Tools
A Workable Process: Step-By-Step
Bibliography
Chapter 17: Childcare: How Pediatricians Can Support Children and Families
Provision and Regulation of Childcare in America
Childcare Settings
Childcare Licensing, Regulation, and Accreditation
Sick Children
Childcare’s Role in Child Health and Development
Characteristics of Childcare and Associations with Child Developmental Outcomes
Childcare and Child Health
Childcare and Children with Special Needs
Role of Pediatric Providers in Childcare
Advising Parents on Childcare Selection
Advising Parents on Childcare Health Issues
Helping Children with Special Needs
Consulting and Partnering with Childcare Providers
Bibliography
Chapter 18: Loss, Separation, and Bereavement
Separation and Loss
Divorce
Move/Family Relocation
Separation Because of Hospitalization
Military Families
Parental/Sibling Death
Grief and Bereavement
Developmental Perspective
Role of the Pediatrician in Grief
Treatment
Spiritual Issues
Bibliography
Chapter 19: Sleep Medicine
Common Sleep Disorders
Insomnia of Childhood
Obstructive Sleep Apnea
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Parasomnias
Etiology
Epidemiology
Clinical Manifestations
Treatment
Sleep-Related Movement Disorders: Restless Legs Syndrome/Periodic Limb Movement Disorder and Rhythmic Movements
Etiology
Epidemiology
Clinical Manifestations
Treatment
Narcolepsy
Etiology
Epidemiology
Clinical Manifestations and Diagnosis
Treatment
Delayed Sleep Phase Disorder
Etiology
Epidemiology
Clinical Manifestations
Treatment
Health Supervision
Evaluation of Pediatric Sleep Problems
Bibliography
Part III: Behavioral and Psychiatric Disorders
Chapter 20: Assessment and Interviewing
Aims of Assessment
Presenting Problems
General Principles of the Psychosocial Interview
Indications for Referral
Psychiatric Diagnostic Evaluation
Special Considerations in the Diagnostic Evaluation of Infants and Young Children
Bibliography
Chapter 21: Psychological Treatment of Children and Adolescents
Bibliography
21.1 Psychopharmacology
Stimulants and other Adhd Medications
Antidepressants
Antipsychotics
Mood Stabilizers
Medication Use in Physical Illness
Hepatic Disease
Gastrointestinal Disease
Kidney Disease
Heart Disease
Respiratory Disease
Neurologic Disease
Neuroleptic Malignant Syndrome
Serotonin Syndrome
Bibliography
21.2 Psychotherapy
Behavior Therapy
Cognitive-Behavioral Therapy
Family Therapy
Psychodynamic Psychotherapy
Supportive Psychotherapy
Parenting Interventions
Bibliography
21.3 Psychiatric Hospitalization
Bibliography
Chapter 22: Somatic Symptom and Related Disorders
Epidemiology
Risk Factors
Family and Environmental
Genetic
Symptom Modeling
Parental Responses
School and Family Stressors
Trauma
Individual
Childhood Physical Illness
Temperament/Coping Styles
Learned Behavior
Psychiatric Comorbidity
Other Biologic Factors
Assessment
Medical
Psychological
Differential Diagnoses
Management
Treatment
Treatment Setting
Bibliography
Chapter 23: Rumination and Pica
23.1 Rumination Disorder
Epidemiology
Etiology and Differential Diagnosis
Treatment
Bibliography
23.2 Pica
Epidemiology
Etiology and Differential Diagnosis
Treatment
Bibliography
23.3 Enuresis (Bed-Wetting)
23.4 Encopresis
Chapter 24: Motor Disorders and Habits
24.1 Tic Disorders
Description
Clinical Course
Epidemiology
Differential Diagnosis
Comorbidities
Etiology
Sequelae
Screening
Assessment
Treatment
24.2 Stereotypic Movement Disorder
Description
Clinical Course
Epidemiology
Comorbidity
Differential Diagnosis
Etiology
Treatment
Habits
Thumb Sucking
Bruxism
Bibliography
Chapter 25: Anxiety Disorders
Anxiety Associated with Medical Conditions
Safety and Efficacy Concerns About SSRIs
Bibliography
Chapter 26: Mood Disorders
26.1 Major and Other Depressive Disorders
Description
Epidemiology
Clinical Course
Differential Diagnosis
Comorbidity
Sequelae
Etiology and Risk Factors
Prevention
Screening/Case Finding
Stepped Management
Early Intervention
Treatment
Level of Care
Bibliography
26.2 Bipolar and Related Disorders
Description
Epidemiology
Clinical Course
Differential Diagnosis
Comorbidity
Sequelae
Etiology/Risk Factors
Prevention
Case Finding
Treatment
Level of Care
Bibliography
Chapter 27: Suicide and Attempted Suicide
Epidemiology
Suicidal Ideation and Attempts
Suicide Completions
Risk Factors
Preexisting Mental Disorder
Cognitive Distortions
Biologic Factors
Social, Environmental, and Cultural Factors
Protective Factors
Assessment and Intervention
Prevention
Bibliography
Chapter 28: Eating Disorders
Definitions
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Laboratory Findings
Complications
Treatment
Principles Guiding Primary Care Treatment
Nutrition and Physical Activity
Primary Care Treatment
Referral to Mental Health Services
Referral to an Interdisciplinary Eating Disorder Team
Supportive Care
Prognosis
Prevention
Bibliography
Chapter 29: Disruptive, Impulse-Control, and Conduct Disorders
Description
Epidemiology
Clinical Course
Differential Diagnosis
Comorbidity
Sequelae
Etiology and Risk Factors
Prevention
Screening/Case Finding
Stepped Management
Early Intervention
Treatment
Level of Care
Bibliography
29.1 Age-Specific Behavioral Disturbances
Infancy and Toddlerhood
Childhood and Adolescence
Lying
Stealing
Truancy and Running Away
Fire Setting
Aggression and Bullying
Cutting and Other Self-Injurious Behaviors
Bibliography
Chapter 30: Autism Spectrum Disorder
Description
Social Communication and Interaction Deficits
Restricted and Repetitive Patterns
Severity
Specifiers/Associated Features
Epidemiology
Etiology/Risk Factors
Genetic and Familial Factors
Neurobiologic Factors
Neuropathology Factors
Clinical Course
Differential Diagnosis
Comorbidities
Sequelae
Screening/Case Finding
Assessment
Treatment
Psychosocial Interventions
Pharmacotherapy
Bibliography
Chapter 31: Childhood Psychoses
31.1 Schizophrenia Spectrum and Other Psychotic Disorders
Description
Epidemiology
Clinical Course
Differential Diagnosis
Comorbidity
Sequelae
Etiology and Risk Factors
Genetic Factors
Environmental Factors
Neuroanatomical Abnormalities
Prevention
Screening/Case Finding
Assessment
Treatment
Pharmacotherapy
Bibliography
31.2 Psychosis Associated with Epilepsy
Bibliography
31.3 Catatonia in Children and Adolescents
Diagnosis and Treatment
Bibliography
31.4 Acute Phobic Hallucinations of Childhood
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Bibliography
Part IV: Learning Disorders
Chapter 32: Neurodevelopmental Function and Dysfunction in the School-Age Child
Terminology and Epidemiology
Etiology and Pathogenesis
Core Neurodevelopmental Functions
Sensory and Motor Development
Language
Visual–Spatial/Visual–Perceptual Function
Intellectual Function
Frontal Lobe Functioning
Attention
Executive Functioning
Memory
Social Cognition
Clinical Manifestations
Reading
Spelling and Writing
Mathematics
Nonacademic Problems
Assessment and Diagnosis
Treatment
Demystification
Bypass Strategies (Accommodations)
Interventions (Remediation of Skills)
Developmental Therapy
Curriculum Modifications
Strengthening of Strengths
Individual and Family Counseling
Controversial Therapies
Medication
Bibliography
Chapter 33: Attention-Deficit/Hyperactivity Disorder
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Clinical Interview and History
Behavior Rating Scales
Physical Examination and Laboratory Findings
Differential Diagnosis
Treatment
Psychosocial Treatments
Behaviorally Oriented Treatments
Medications
Prognosis
Prevention
Bibliography
Chapter 34: Dyslexia
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Management
Prognosis
Bibliography
Chapter 35: Language Development and Communication Disorders
Normal Language Development
Receptive Language Development
Expressive Language Development
Variations of Normal
Language and Communication Disorders
Epidemiology
Etiology
Pathogenesis
Clinical Manifestations
Classification
Specific Language Impairment
Higher-Level Language Disorder
Intellectual Disability
Autism and Pervasive Developmental Disorders
Asperger Syndrome
Selective Mutism
Isolated Expressive Language Disorder
Motor Speech Disorders
Dysarthria
Childhood Apraxia of Speech
Phonologic Disorder
Hearing Impairment
Hydrocephalus
Rare Causes of Language Impairment
Hyperlexia
Landau-Kleffner Syndrome (Verbal Auditory Agnosia)
Metabolic and Neurodegenerative Disorders
Screening
Noncauses of Language Delay
Diagnostic Evaluation
Psychologic Evaluation
Cognitive Assessment
Evaluation of Social Behaviors
Relationship of Language and Social Behaviors to Mental Age
Speech and Language Evaluation
Medical Evaluation
Treatment
Prognosis
Academic Disorders
Comorbid Disorders
Emotional and Behavioral Difficulty
Motor and Coordination Delays
Bibliography
35.1 Childhood-Onset Fluency Disorder: Dysfluency (Stuttering, Stammering)
Epidemiology and Etiology
Diagnosis
Treatment
Bibliography
Chapter 36: Intellectual Disability
Definition
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Diagnostic Psychologic Testing
Complications
Prevention
Treatment
Supportive Care and Management
Primary Care
Interdisciplinary Management
Periodic Reevaluation
Educational Services
Leisure and Recreational Activities
Family Counseling
Prognosis
Bibliography
Part V: Children with Special Needs
Chapter 37: Adoption
Role of Pediatricians
Preadoption Medical Record Reviews
Postadoption Medical Care
Arrival Visit–International Adoption
Developmental Delays
Growth Delays
Language Development
Eating Concerns
Sleep Concerns
Social and Emotional Development
Racial Identity Development
Toxic Stress
Family Support
Adoption Narrative
Bibliography
37.1 Medical Evaluation of Immigrant (Foreign-Born) Children for Infectious Diseases
Commonly Encountered Infections
Hepatitis B
Hepatitis A
Hepatitis C
Intestinal Pathogens
Tuberculosis
Congenital Syphilis
HIV Infection
Immunizations
Bibliography
Chapter 38: Foster and Kinship Care
Epidemiology
Legislation in the United States
Early Childhood Trauma Leads to Poor Health Outcomes
Health Issues
Healthcare for Children and Adolescents in Foster Care
Bibliography
Chapter 39: Impact of Violence on Children
Impacts of Violence
Diagnosis and Follow-up
Bibliography
Websites
39.1 Bullying, Cyberbullying, and School Violence
Bullying (“Traditional Bullying”)
Cyberbullying
Epidemiology
Health Outcomes
School Violence
Epidemiology
Risk Factors
Treatment and Prevention of Bullying and School Violence
Bibliography
Website Resources
39.2 Effects of War on Children
Susceptibility of Children in Times of War
Psychologic Impact of War
Efforts to Protect Children From the Effects of War
International Conventions
Humanitarian Efforts
The Role of Pediatricians and Allied Health Professionals
Bibliography
Chapter 40: Abused and Neglected Children
Definitions
Incidence and Prevalence
Global Situation
Situation in the United States
Etiology
Clinical Manifestations
General Principles for Assessing Possible Abuse and Neglect
General Principles for Addressing Child Maltreatment
Outcomes of Child Maltreatment
Prevention of Child Abuse and Neglect
Advocacy
Bibliography
General References
Physical Abuse
Neglect
Prevention
Professional Issues
American Academy of Pediatrics Policy Statements
40.1 Sexual Abuse
Definition
Presentation of Sexual Abuse
The Role of the General Pediatrician in the Assessment and Management of Possible Sexual Abuse
Physical Examination of the Child with Suspected Sexual Abuse
Sexual Abuse Prevention
Bibliography
40.2 Medical Child Abuse (Factitious Disorder by Proxy, Munchausen Syndrome by Proxy)
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 41: Failure to Thrive
Clinical Manifestations
Etiology and Diagnosis
Treatment
Prognosis
Bibliography
Chapter 42: Chronic Illness in Childhood
Epidemiology
Enhanced Needs of Children with Chronic Illness and Their Families
Financial Costs
Complex Clinical Management
Pain
Behavioral and Adjustment Issues
Impact on Families
Comprehensive Care and the Medical Home
Preventive Services
Continuity of Care
Access to Urgent Care
Access to Specialty Care
Enhanced Information Systems
Linkage to Schools, Support Groups, and Community Services
Logistic Access
Cultural Sensitivity and Language Concordance
Nondiscrimination in Access and Clinical Decision Making
Bibliography
Chapter 43: Pediatric Palliative Care
Care Settings
Primary and Subspecialty Palliative Care
Communication, Advance Care Planning, and Anticipatory Guidance
The Parents
The Child
The Siblings
The Staff
Goals of Care and Decision Making
Resuscitation Status
Symptom Management
Intensive Symptom Management
The Terminal Phase
The Pediatrician
Bibliography
Part VI: Nutrition
Chapter 44: Nutritional Requirements
Dietary Reference Intakes
Energy
Fat
Proteins
Carbohydrates
Fiber
Micronutrients
Water
Measuring Nutritional Adequacy
Bibliography
Chapter 45: Feeding Healthy Infants, Children, and Adolescents
Feeding During the First Year of Life
Breastfeeding
Nipple Pain
Engorgement
Mastitis
Inadequate Milk Intake
Jaundice
Collecting Breast Milk
Growth of the Breastfed Infant
Formula Feeding (Fig. 45-1)
Cow Milk Protein–Based Formulas
Soy Formulas
Protein Hydrolysate Formula
Amino Acid Formulas
Milk and Other Fluids
Complementary Feeding
Feeding Toddlers and Preschool-Age Children
Feeding Practices
Eating in the Daycare Setting
Feeding School-Age Children and Adolescents
MyPlate
Eating at Home
Eating at School
Eating Out
Nutrition Issues of Importance Across Pediatric Ages
Food Environment
Using Food as Reward
Cultural Considerations in Nutrition and Feeding
Vegetarianism
Organic Foods
Nutrition as Part of Complementary and Alternative Medicine, Functional Foods, Dietary Supplements, Vitamin Supplements, and Botanical and Herbal Products
Food Safety
Nutritional Programming
Preventive Nutrition Counseling in Pediatric Primary Care
Food Assistance Programs in the USA
Bibliography
Chapter 46: Nutrition, Food Security, and Health
Malnutrition as the Intersection of Food Insecurity and Health Insecurity
Food Security
Measuring Food Insecurity
Nutrition, Food Security, and Poverty
Food Security and Nutrition Targets
Future Food Security
Undernutrition
Measurement of Undernutrition
Prevalence of Undernutrition
Consequences of Undernutrition
Key Interventions
Clinical Manifestations and Treatment of Undernutrition
Severe Acute Malnutrition
Clinical Manifestations of Severe Acute Malnutrition (Table 46-6)
Pathophysiology
Principles of Treatment
46.1 Refeeding Syndrome
Bibliography
Chapter 47: Overweight and Obesity
Epidemiology
Body Mass Index
Etiology
Environmental Changes
Genetics
Endocrine and Neural Physiology
Comorbidities
Identification
Evaluation
Intervention
Prevention
Bibliography
Chapter 48: Vitamin A Deficiencies and Excess
Overview of Vitamin A
Metabolism of Vitamin A
Vitamin A Status in Neonates
Inflammation as a Cause of Low Plasma Retinol
Functions of Vitamin a and Mechanisms of Action
Vitamin a Deficiency
Clinical Manifestations of Vitamin A Deficiency
Diagnosis
Epidemiology and Public Health Issues
Dietary Reference Intakes for the Healthy Population
Vitamin A for Treatment of Deficiency
Hypervitaminosis A
Bibliography
Chapter 49: Vitamin B Complex Deficiencies and Excess
49.1 Thiamine (Vitamin B1)
Deficiency
Clinical Manifestations
Diagnosis
Prevention
Treatment
Toxicity
Bibliography
49.2 Riboflavin (Vitamin B2)
Deficiency
Clinical Manifestations
Diagnosis
Prevention
Treatment
Toxicity
Bibliography
49.3 Niacin (Vitamin B3)
Deficiency
Clinical Manifestations
Diagnosis
Prevention
Treatment
Toxicity
Bibliography
49.4 Vitamin B6 (Pyridoxine)
Deficiency
Clinical Manifestations
Diagnosis
Prevention
Treatment
Toxicity
Bibliography
49.5 Biotin
Bibliography
49.6 Folate
Deficiency
Clinical Manifestations
Diagnosis
Prevention
Treatment
Toxicity
Bibliography
49.7 Vitamin B12 (Cobalamin)
Deficiency
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 50: Vitamin C (Ascorbic Acid)
Dietary Needs and Sources
Deficiency
Clinical Features
Laboratory Findings and Diagnosis
Differential Diagnosis
Treatment
Prevention
Toxicity
Bibliography
Chapter 51: Rickets and Hypervitaminosis D
Rickets
Etiology
Clinical Manifestations
Radiology
Diagnosis
Clinical Evaluation
Vitamin D Disorders
Vitamin D Physiology
Nutritional Vitamin D Deficiency
Etiology
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Prevention
Congenital Vitamin D Deficiency
Secondary Vitamin D Deficiency
Etiology
Treatment
Vitamin D–Dependent Rickets, Type 1
Treatment
Vitamin D–Dependent Rickets, Type 2
Treatment
Chronic Kidney Disease (See Chapter 535.2)
Treatment
Calcium Deficiency
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Phosphorous Deficiency
Inadequate Intake
Fibroblast Growth Factor-23
X-Linked Hypophosphatemic Rickets
Pathophysiology
Clinical Manifestations
Laboratory Findings
Treatment
Prognosis
Autosomal Dominant Hypophosphatemic Rickets
Autosomal Recessive Hypophosphatemic Rickets
Hereditary Hypophosphatemic Rickets with Hypercalciuria
Pathophysiology
Clinical Manifestations
Laboratory Findings
Treatment
Overproduction of FGF-23
Fanconi Syndrome
Dent Disease (See Chapter 531.3)
Rickets of Prematurity (See Chapter 106)
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Prevention
Treatment
Distal Renal Tubular Acidosis (See Chapter 530)
Hypervitaminosis D
Etiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 52: Vitamin E Deficiency
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 53: Vitamin K Deficiency
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prevention
Bibliography
Chapter 54: Micronutrient Mineral Deficiencies
Bibliography
Part VII: Fluid and Electrolyte Disorders
Chapter 55: Electrolyte and Acid-Base Disorders
55.1 Composition of Body Fluids
Total Body Water
Fluid Compartments
Electrolyte Composition
Osmolality
Bibliography
55.2 Regulation of Osmolality and Volume
Regulation of Osmolality
Regulation of Volume
Bibliography
55.3 Sodium
Sodium Metabolism
Body Content and Physiologic Function
Intake
Excretion
Hypernatremia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Hyponatremia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
55.4 Potassium
Potassium Metabolism
Body Content and Physiologic Function
Intake
Excretion
Hyperkalemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Hypokalemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
55.5 Magnesium
Magnesium Metabolism
Body Content and Physiologic Function
Intake
Excretion
Hypomagnesemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Hypermagnesemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
55.6 Phosphorus
Phosphorus Metabolism
Body Content and Physiologic Function
Intake
Excretion
Hypophosphatemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Hyperphosphatemia
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
55.7 Acid–Base Balance
Acid–Base Physiology
Introduction and Terminology
Physiologic Buffers
Normal Acid–Base Balance
Renal Mechanisms
Clinical Assessment of Acid–Base Disorders
Terminology
Diagnosis
Metabolic Acidosis
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Metabolic Alkalosis
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Respiratory Acidosis
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Respiratory Alkalosis
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 56: Maintenance and Replacement Therapy
Maintenance Therapy
Maintenance Water
Intravenous Solutions
Glucose
Selection of Maintenance Fluids
Variations in Maintenance Water and Electrolytes
Replacement Fluids
Bibliography
Chapter 57: Deficit Therapy
Clinical Manifestations
Laboratory Findings
Calculation of the Fluid Deficit
Approach to Severe Dehydration
Monitoring and Adjusting Therapy
Hyponatremic Dehydration
Hypernatremic Dehydration
Bibliography
Chapter 58: Fluid and Electrolyte Treatment of Specific Disorders
Acute Diarrhea
Pyloric Stenosis
Perioperative Fluids
Part VIII: Pediatric Drug Therapy
Chapter 59: Pediatric Pharmacogenetics, Pharmacogenomics, and Pharmacoproteomics
Pharmacogenetics, Pharmacogenomics, and the Concept of Personalized Medicine
Definition of Pharmacogenetic Terms
Developmental or Pediatric Pharmacogenetics and Pharmacogenomics
Pharmacogenetic, Pharmacogenomic, and Pharmacoproteomic and Metabolomic Tools
Developmental Pharmacogenetics of Drug Biotransformation: Applications to Pediatric Drug Therapy Practice
CYP2D6
CYP2C9
CYP2C19
CYP3A4, CYP3A5, and CYP3A7
Glucuronosyltransferases
Arylamine N-Acetyltransferases
Thiopurine S-Methyltransferase
Pharmacogenetics of Drug Transporters
The Adenosine Triphosphate–Binding Cassette Superfamily
Organic Anion Transporting Polypeptides
Organic Cation Transporters
Pharmacogenetics of Drug Response: Polymorphisms in Drug Receptors, Ion Channels, and Other Drug Targets During Growth and Development
Current and Future Applications for Pharmacogenetics and Pharmacogenomics in Pediatrics
Bibliography
Chapter 60: Principles of Drug Therapy
General Pharmacokinetic and Pharmacodynamic Principles
The Impact of Ontogeny on Drug Disposition
Drug Absorption
Peroral Absorption
Extravascular Drug Absorption
Drug Distribution
Drug Metabolism
Renal Drug Elimination
Impact of Ontogeny on Pharmacodynamics
Surrogate End Points
Additional Considerations in Pediatric Therapeutics
Drug-Level Monitoring
Drug Formulation and Administration
Peroral Drug Administration
Parenteral Drug Administration
Other Routes for Drug Administration
Adherence and Compliance
Drug–Drug Interactions
Adverse Drug Reactions
Personalized Medicine
Bibliography
Chapter 61: Anesthesia, Perioperative Care, and Sedation
General Anesthesia
Analgesia
Hypnosis and Amnesia
Akinesia (Immobility or Muscular Relaxation)
Physiologic Support
Vigilance
Induction of General Anesthesia
Inhalational Anesthetics
Respiratory Effects
Cardiovascular Effects
Specific Anesthetics
Sevoflurane
Isoflurane
Desflurane
Nitrous Oxide
Intravenous Anesthetic Agents
Propofol
Barbiturates
Etomidate
Ketamine
Opioids
Benzodiazepines
Dexmedetomidine
Complications During Induction of Anesthesia
Parental Presence During Induction of Anesthesia
Maintenance of Anesthesia
Fluid Maintenance During Surgery and Anesthesia
Recovery from Anesthesia
Postanesthesia Care Unit
Complications in the Postanesthesia Care Unit
Respiratory Depression
Awareness During Anesthesia
Postoperative Nausea and Vomiting
Thermoregulation and Malignant Hyperthermia
Postoperative Apnea
Preanesthetic Evaluation
Airway Evaluation
Mediastinal Masses
Down Syndrome
Cardiovascular System
Neurobehavioral Considerations
Preoperative Preparation
Preoperative Fasting
The Full Stomach
Postoperative Pain Management
Regional Anesthesia
Bibliography
61.1 Sedation and Procedural Pain
Bibliography
61.2 Anesthetic Neurotoxicity
Bibliography
Chapter 62: Pediatric Pain Management
Definition and Categories of Pain
The Assessment and Measurement of Pain in Children
Age-Specific and Developmentally Specific Measures
The Newborn and Infant
The Older Child
The Cognitively Impaired Child
A Conceptual Framework for the Treatment of Pediatric Pain
Pharmacologic Treatment of Pain
Developmental Pharmacology
Acetaminophen, Aspirin, Nonsteroidal Antiinflammatory, and Coxib Drugs
Opioids
Local Anesthetics
Unconventional Medications in Pediatric Pain
Antidepressant Medications
Tricyclic Antidepressants
Serotonin and Serotonin-Norepinephrine Reuptake Inhibitors
Antiepileptic Drugs
Benzodiazepines
Antipsychotics and Major Sedatives
Nonpharmacologic Treatment of Pain
Other Psychologic or Psychiatric Treatment
Invasive Interventions in Treating Pain
Head and Neck Blocks
Upper-Extremity Blocks
Trunk and Abdominal Visceral Blocks
Lower-Extremity Blocks
Sympathetic Blocks
Epidural Anesthesia (Thoracic, Lumbar, and Caudal)
Intrathecal Analgesia
Nerve Ablation and Destruction
Considerations for Special Pediatric Populations
Pain Perception and Effects of Pain on Newborns and Infants
Children with Cancer Pain
Children with Pain Associated with Advanced Disease
Examples of Chronic and Recurrent Pain Syndromes
Complex Regional Pain Syndromes
Myofascial Pain Disorders and Fibromyalgia
Erythromelalgia
Other Chronic Pain Conditions in Children
Managing Complex Chronic Pain Problems
Bibliography
Chapter 63: Poisoning
Prevention
Approach to the Poisoned Patient
Initial Evaluation
History
Description of the Exposure
Symptoms
Past Medical History
Social History
Physical Examination
Laboratory Evaluation
Additional Diagnostic Testing
Principles of Management
Supportive Care
Antidotes
Decontamination
Syrup of Ipecac
Gastric Lavage
Single-Dose Activated Charcoal
Whole-Bowel Irrigation
Enhanced Elimination
Urinary Alkalinization
Hemodialysis
Multiple-Dose Activated Charcoal
Intralipid Emulsion Therapy
Selected Compounds Commonly Involved in Pediatric Poisonings
Pharmaceuticals
Analgesics
Acetaminophen.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Salicylates.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Ibuprofen and Other Nonsteroidal Antiinflammatory Drugs.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Oral Opioids.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Cardiovascular Medications
β-Adrenergic Receptor Blockers.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Calcium Channel Blockers.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Clonidine.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Digoxin.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Iron.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Oral Hypoglycemics
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Psychiatric Medications: Antidepressants
Tricyclic Antidepressants.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Selective Serotonin Reuptake Inhibitors.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Atypical Antidepressants.
Clinical and Laboratory Manifestations.
Treatment.
Monoamine Oxidase Inhibitors.
Psychiatric Medications: Antipsychotics
Pathophysiology.
Clinical and Laboratory Manifestations.
Management.
Household Products
Caustics
Pathophysiology.
Clinical Manifestations.
Treatment.
Cholinesterase-Inhibiting Insecticides
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Hydrocarbons
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Toxic Alcohols
Methanol.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Ethylene Glycol.
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Plants
Toxic Gases
Carbon Monoxide
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Hydrogen Cyanide
Pathophysiology.
Clinical and Laboratory Manifestations.
Treatment.
Some Miscellaneous Toxic Agents Found in the Home
Single-Use Detergent Sacs
Electric Dishwasher Detergent
Magnets
Batteries
Bibliography
Chapter 64: Complementary Therapies and Integrative Medicine
Dietary Supplements
Dietary Supplement Safety
Dietary Supplement Efficacy
Massage and Chiropractic
Mind–Body Therapies
Acupuncture
Bibliography
Internet Resources
Part IX: The Acutely Ill Child
Chapter 65: Evaluation of the Sick Child in the Office and Clinic
History
Physical Exam
Risk Factors
Management
Disposition
Bibliography
Chapter 66: Emergency Medical Services for Children
The Primary Care Physician and Office Preparedness
Staff Training and Continuing Education
Protocols
Resuscitation Equipment
Transport
Pediatric Prehospital Care
Access to the EMS System
Provider Capability
Destination Determination
The Emergency Department
Emerging Issues in EMSC
Disaster Preparedness
Bibliography
66.1 Interfacility Transport of the Seriously Ill or Injured Pediatric Patient
Communications and Dispatch Center
Medical Control Physician
Transport Team
Ground Versus Air Ambulance
Transport Physiology
Safety
Family-Centered Care
Referring Hospital Responsibilities
Educational Outreach
Bibliography
66.2 Outcomes and Risk Adjustment
Outcome Measures in Emergency Medical Services for Children
Risk Adjustment
Risk Adjustment Tools in EMSC
Pediatric Risk of Admission II
Revised Pediatric Emergency Assessment Tool
Bibliography
66.3 Principles Applicable to the Developing World
EMSC and the Continuum of Care Model
Applying the Continuum of Care Model to the Developing World
Prevention
Infectious Diseases
Injuries
Out-of-Hospital Care
Access to Care
Prehospital Care
Methods of Transport
Hospital-Based Care
Triage
Pediatric-Specific Emergency Centers
Practitioners
Clinical Guidelines
Trauma
Equipment
Inpatient Services
Humanitarian Disasters
Exchange and Dissemination of Information
Bibliography
Chapter 67: Pediatric Emergencies and Resuscitation
Approach to the Emergency Evaluation of a Child
General Assessment
Primary Assessment
Airway and Breathing
Circulation
Disability
The Alert, Verbal, Pain, Unresponsive Pediatric Response Scale.
The Glasgow Coma Scale.
Exposure
Secondary Assessment
Tertiary Assessment
Recognition and Treatment of Respiratory Distress and Failure
Airway Obstruction
Airway Narrowing
Parenchymal Lung Disease
Advanced Airway Management Techniques
Bag-Valve-Mask Positive Pressure Ventilation
Endotracheal Intubation
Recognition and Management of Shock
Recognition of Bradyarrhythmias and Tachyarrhythmias
Bradyarrhythmias
Tachyarrhythmias
Recognition and Management of Cardiac Arrest
Vascular Access
Venous Access
Intraosseous Access
Arterial Access
Nonvascular Emergency Procedures
Thoracentesis and Chest Tube Placement
Pericardiocentesis
Postresuscitation Care
Bibliography
Chapter 68: Neurologic Emergencies and Stabilization
Neurocritical Care Principles
Traumatic Brain Injury
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Supportive Care
Prognosis
Bibliography
68.1 Brain Death
Epidemiology
Clinical Manifestations and Diagnosis
Coma
Brainstem Reflexes
Apnea
Observation Periods
Ancillary Studies
Documentation
Supportive Care
Objections to the Idea of Brain Death
Bibliography
Chapter 69: Syncope
Epidemiology
Mechanisms
Evaluation
Treatment
Bibliography
69.1 Disorders of Orthostatic Intolerance
Bibliography
Chapter 70: Shock
Epidemiology
Definition
Pathophysiology
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Initial Management
Additional Early Considerations
Considerations for Continued Therapy
Prognosis
Bibliography
Chapter 71: Respiratory Distress and Failure
Respiratory Distress
Respiratory Disease Manifesting as Respiratory Distress
Respiratory Distress without Respiratory Disease
Cardiovascular Disease Manifesting as Respiratory Distress
Neurologic Disease Manifesting as Respiratory Distress
Toxic-Metabolic States Manifesting as Respiratory Distress
Other Nonpulmonary Entities Manifesting as Respiratory Distress
Respiratory Failure
Pathophysiology of Respiratory Failure
Ventilation–Perfusion Mismatch, Venous Admixture, Intrapulmonary Shunt
Diffusion
Monitoring a Child in Respiratory Distress and Respiratory Failure
Clinical Examination
Blood Gas Abnormalities in Respiratory Distress and Respiratory Failure
Acid–Base Abnormalities in a Child with Respiratory Distress and Respiratory Failure
Metabolic Acidosis with Respiratory Compensation
Respiratory Acidosis with Metabolic Compensation
Assessment of Oxygenation and Ventilation Deficits
Management
Oxygen Administration
Airway Adjuncts
Inhaled Gases
Positive-Pressure Respiratory Support
Endotracheal Intubation and Mechanical Ventilation
Transient Manual Ventilation in the Immediate Preintubation and Postintubation Periods
Bibliography
71.1 Mechanical Ventilation
Basic Concepts of Ventilator Management
Equation of Motion
Functional Residual Capacity
Time Constant
Critical Opening Pressure
Phases of Mechanical Ventilation
Initiation of Inspiration and the Control Variable (Mode)
Control Modes
Intermittent Mandatory Ventilation Mode
Assist-Control Mode
Control Variable
Support Modes
Inspiratory Phase Characteristics
Termination of Inspiration (Cycle)
Expiratory Phase Maneuvers
Additional Ventilatory Modalities
Airway Pressure Release Ventilation
High-Frequency Ventilation
Conventional Ventilator Settings
Fio2
Mode
Tidal Volume and Rate
Inspiratory Time and Expiratory Time
Positive End-Expiratory Pressure
Patient-Ventilator Asynchrony
Triggering the Ventilator
Selection of Appropriate Inspiratory Time
Selection of Inspiratory Flow Pattern
Use of Support Modes
Use of Sedation and Pharmacologic Paralysis
Cardiopulmonary Interactions
Monitoring Respiratory Mechanics
Exhaled Tidal Volume
Peak Inspiratory Pressure
Respiratory System Dynamic Compliance and Static Compliance
Assessment of Auto-PEEP
Assessment of Dead Space Ventilation
Ventilator-Induced LUNG Injury
Ventilator-Associated Pneumonia
Weaning
Bibliography
71.2 Long-Term Mechanical Ventilation
Chapter 72: Acute Care of the Victim of Multiple Trauma
Epidemiology
Regionalization and Trauma Teams
Primary Survey
Airway/Cervical Spine
Breathing
Circulation
Neurologic Deficit
Exposure and Environmental Control
Secondary Survey
Head Trauma
Cervical Spine Trauma
Thoracic Trauma
Abdominal Trauma
Pelvic Trauma
Lower Genitourinary Trauma
Extremity Trauma
Radiologic and Laboratory Evaluation
Psychological and Social Support
Bibliography
72.1 Care of Abrasions and Minor Lacerations
Lacerations and Cuts
Epidemiology
Evaluation
Treatment
Abrasions
Treatment
Bibliography
Chapter 73: Altitude-Associated Illness in Children (Acute Mountain Sickness)
Etiology
Definitions
Environmental Considerations
General Effects of Hypobaric Hypoxia
Acclimatization
Acute Mountain Sickness
Epidemiology and Risk Factors
Pathophysiology
Diagnosis
Periodic Breathing
Management
Prevention
High Altitude Cerebral Edema
Epidemiology and Risk Factors
Pathophysiology
Diagnosis
Management
High Altitude Pulmonary Edema
Epidemiology and Risk Factors
Physiology
Diagnosis
Management
Special Considerations
Reentry HAPE
Symptomatic High-Altitude Pulmonary Hypertension
Travel With Young Infants
Sickle Trait/Disease
Prevention
Bibliography
Chapter 74: Drowning and Submersion Injury
Etiology
Epidemiology
Children Younger Than 1 Year of Age
Children 1-4 Years of Age
School-age Children
Adolescents
Underlying Conditions
Alcohol Use
Sports and Recreation
Global Impact of Drowning
Pathophysiology
Anoxic–Ischemic Injury
Pulmonary Injury
Cold Water Injury
Management
Initial Evaluation and Resuscitation
Hospital-Based Evaluation and Treatment
Cardiorespiratory Management
Neurologic Management
Other Management Issues
Hypothermia Management
Prognosis
Prevention
Bibliography
Chapter 75: Burn Injuries
Epidemiology
Prevention
Acute Care, Resuscitation, and Assessment
Indications for Admission
First Aid Measures
Emergency Care
Classification of Burns
Estimation of Body Surface Area for a Burn
Treatment
Outpatient Management of Minor Burns
Fluid Resuscitation
Prevention of Infection and Surgical Management of the Burn Wound
Nutritional Support
Topical Therapy
Inhalational Injury
Pain Relief and Psychologic Adjustment
Reconstruction and Rehabilitation
School Reentry and Long-Term Outcome
Special Situations
Electrical Burns
Bibliography
Useful Links
Chapter 76: Cold Injuries
Pathophysiology
Etiology
Clinical Manifestations
Frostnip
Immersion Foot (Trench Foot)
Frostbite
Hypothermia
Chilblain (Pernio)
Cold-Induced Fat Necrosis (Panniculitis)
Bibliography
Part X: Human Genetics
Chapter 77: Integration of Genetics Into Pediatric Practice
Diagnostic Testing
Predictive Testing
Predispositional Testing
Pharmacogenetic Testing
77.1 Genetic Counseling
Talking to Families
Genetic Counseling
Specific Condition or Conditions
Knowledge of the Diagnosis of the Particular Condition
Natural History of the Condition
Genetic Aspects of the Condition and Recurrence Risk
Prenatal Diagnosis and Prevention
Therapies and Referral
Support Groups
Follow-up
Nondirective Counseling
77.2 Management and Treatment of Genetic Disorders
Physiologic Therapies
Replacement Therapies
Enzyme Replacement
Transplantation
Bibliography
Chapter 78: The Genetic Approach in Pediatric Medicine
The Burden of Genetic Disorders in Childhood
The Changing Paradigm of Genetics in Medicine
Ethics Issues
Bibliography
Chapter 79: The Human Genome
Fundamentals of Molecular Genetics
Genetic Variation
Genotype-Phenotype Correlations in Genetic Disease
Human Genome Project
Bibliography
Chapter 80: Patterns of Genetic Transmission
Family History and Pedigree Notation
Mendelian Inheritance
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
Pseudodominant Inheritance
X-Linked Inheritance
Y-Linked Inheritance
Digenic Inheritance
Pseudogenetic Inheritance and Familial Clustering
Nontraditional Inheritance
Mitochondrial Inheritance
Triplet Repeat Expansion Disorders
Genetic Imprinting
Multifactorial and Polygenic Inheritance
Bibliography
Chapter 81: Cytogenetics
81.1 Methods of Chromosome Analysis
Bibliography
81.2 Down Syndrome and Other Abnormalities of Chromosome Number
Aneuploidy and Polyploidy
Down Syndrome
Bibliography
81.3 Abnormalities of Chromosome Structure
Translocations
Inversions
Deletions and Duplications
Insertions
Isochromosomes
Marker and Ring Chromosomes
Bibliography
81.4 Sex Chromosome Aneuploidy
Turner Syndrome
Klinefelter Syndrome
47,XYY
Bibliography
81.5 Fragile Chromosome Sites
Bibliography
81.6 Mosaicism
Pallister-Killian Syndrome
Hypomelanosis of Ito
81.7 Chromosome Instability Syndromes
81.8 Uniparental Disomy and Imprinting
Uniparental Disomy
Imprinting
Bibliography
Chapter 82: Genetics of Common Disorders
82.1 Major Genetic Approaches to the Study of Common Pediatric Disorders
Linkage Mapping
Genetic Association
Bibliography
Chapter 83: Genetic Approaches to Rare and Undiagnosed Diseases
Scope of Genetic Disease
Clinical Evaluation
Available Commercial Laboratory Genetic Studies
Single-Nucleotide Polymorphism Arrays
Exome Sequencing
Gene Function Studies
Pediatric Issues
Considerations for Families of Undiagnosed Children
The Diagnostic Spectrum
Bibliography
Part XI: Metabolic Disorders
Chapter 84: An Approach to Inborn Errors of Metabolism
Common Characteristics of Genetic Disorders of Metabolism
Mass Screening of Newborn Infants
Clinical Manifestations of Genetic Metabolic Diseases
Treatment
Bibliography
Chapter 85: Defects in Metabolism of Amino Acids
85.1 Phenylalanine
Classic Phenylketonuria
Clinical Manifestations
Nonphenylketonuria Hyperphenylalaninemias (Milder Forms of Hyperphenylalaninemia)
Diagnosis
Neonatal Screening for Hyperphenylalaninemia
Treatment
Pregnancy in Women with Hyperphenylalaninemia (Maternal Phenylketonuria)
Hyperphenylalaninemia Caused by Deficiency of the Cofactor Tetrahydrobiopterin
Clinical Manifestations
Diagnosis
Treatment
Genetics and Prevalence
Tetrahydrobiopterin Defects Without Hyperphenylalaninemia
Bibliography
85.2 Tyrosine
Tyrosinemia Type I (Tyrosinosis, Hereditary Tyrosinemia, Hepatorenal Tyrosinemia)
Clinical Manifestations and Natural History
Laboratory Findings
Treatment and Outcome
Genetics and Prevalence
Tyrosinemia Type II (Richner-Hanhart Syndrome, Oculocutaneous Tyrosinemia)
Tyrosinemia Type III (Primary Deficiency of 4-Hydroxyphenylpyruvate Dioxygenase [4-HPPD])
Hawkinsinuria
Transient Tyrosinemia of the Newborn
Alkaptonuria
Tyrosine Hydroxylase Deficiency
Albinism (See also Chapters 622 and 653)
Oculocutaneous (Generalized) Albinism
OCA1 (Tyrosinase-Deficient Albinism)
OCA1 A (Tyrosinase-Negative OCA)
OCA1 B
OCA2 (Tyrosinase-Positive OCA)
OCA3 (Rufous Albinism)
OCA4
Ocular Albinism
Ocular Albinism 1 (Nettleship-Falls Type)
Syndromic Forms of Generalized Albinism
Hermansky-Pudlak Syndrome
Chédiak-Higashi Syndrome
Localized Albinism
Piebaldism
Waardenburg Syndrome
Bibliography
85.3 Methionine
Homocystinuria (Homocystinemia)
Homocystinuria Caused by Cystathionine β-Synthase Deficiency (Classic Homocystinuria)
Homocystinuria Caused by Defects in Methylcobalamin Formation
Homocystinuria Caused by Deficiency of Methylenetetrahydrofolate Reductase
Hypermethioninemia
Primary (Genetic) Hypermethioninemia
Acquired (Nongenetic) Hypermethioninemia
Cystathioninemia (Cystathioninuria)
Bibliography
85.4 Cysteine/Cystine
Sulfite Oxidase Deficiency (Molybdenum Cofactor Deficiency)
Bibliography
85.5 Tryptophan
Hartnup Disorder
Bibliography
85.6 Valine, Leucine, Isoleucine, and Related Organic Acidemias
Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease
Intermediate (Mild) Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease
Thiamine-Responsive Maple Syrup Urine Disease
Maple Syrup Urine Disease Caused by a Deficiency of E3 Subunit (Maple Syrup Urine Disease Type 3)
Genetics and Prevalence of Maple Syrup Urine Disease
Isovaleric Acidemia
Multiple Carboxylase Deficiencies (Defects in Utilization of Biotin)
Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency Neonatal or Early Form)
Biotinidase Deficiency (Multiple Carboxylase Deficiency—Juvenile or Late Form)
Multiple Carboxylase Deficiency Because of Dietary Biotin Deficiency
Isolated 3-Methylcrotonyl Coenzyme a (CoA) Carboxylase Deficiency
3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria Type I (3-Methylglutaconyl Coenzyme A Hydratase Deficiency)
3-Methylglutaconic Aciduria Type II (X-Linked Cardiomyopathy, Neutropenia, Growth Retardation, and 3-Methylglutaconic Aciduria with Normal 3-Methylglutaconyl Coenzyme A Hydratase, Barth Syndrome)
3-Methylglutaconic Aciduria Type III (Costeff Optic Atrophy Syndrome)
β-Ketothiolase (3-Oxothiolase) Deficiency (Mitochondrial Acetoacetyl Coenzyme a Thiolase [T2] Deficiency)
Cytosolic Acetoacetyl Coenzyme a Thiolase Deficiency
Mitochondrial 3-Hydroxy-3-Methylglutaryl Coenzyme a Synthase Deficiency
3-Hydroxy-3-Methylglutaric Aciduria
Succinyl Coenzyme A:3-Ketoacid Coenzyme a Transferase (SCOT) Deficiency
Mevalonic Aciduria
Mevalonic Aciduria, Severe Form
Periodic Fever with Hyperimmunoglobulinemia D (Mevalonic Aciduria, Mild Form)
Treatment
Propionic Acidemia (Propionyl Coenzyme a Carboxylase Deficiency)
Methylmalonic Acidemia
Defects in Metabolism of Vitamin B12 (Cobalamin)
Combined Methylmalonic Aciduria and Homocystinuria (cblC, cblD, cblF, cblJ, and cblX Defects)
Bibliography
85.7 Glycine
Hypoglycinemia
Hyperglycinemia
Nonketotic Hyperglycinemia, Glycine Encephalopathy
Neonatal Hyperglycemia
Infantile Nonketotic Hyperglycinemia
Late-Onset Nonketotic Hyperglycinemia, Mild Episodic Form
Transient Nonketotic Hyperglycinemia
Sarcosinemia
d-Glyceric Aciduria
Trimethylaminuria
Hyperoxaluria and Oxalosis
Primary Hyperoxaluria Type 1
Primary Hyperoxaluria Type 2 (l-Glyceric Aciduria)
Primary Hyperoxaluria Type 3
Creatine Deficiency
Bibliography
85.8 Serine
3-Phosphoglycerate Dehydrogenase Deficiency
Phosphoserine Aminotransferase Deficiency
Bibliography
85.9 Proline
Hyperprolinemia
Hyperprolinemia Type I
Hyperprolinemia Type II
Prolidase Deficiency
Bibliography
85.10 Glutamic Acid
Glutathione Synthetase Deficiency
Glutathione Synthetase Deficiency, Severe Form (Pyroglutamic Acidemia, Severe 5-Oxoprolinuria) and Moderate Form
Glutathione Synthetase Deficiency, Mild Form
5-Oxoprolinase Deficiency (5-Oxoprolinuria)
γ-Glutamylcysteine Synthetase Deficiency
Glutathionemia (γ-Glutamyl Transpeptidase Deficiency)
Genetic Disorders of Metabolism of γ-Aminobutyric Acid
Congenital Glutamine Deficiency
Bibliography
85.11 Genetic Disorders of Neurotransmitters
Tyrosine Hydroxylase Deficiency (Infantile Parkinsonism, Autosomal Recessive Dopa-Responsive Dystonia, Segawa Syndrome, Autosomal Recessive Form)
Aromatic l-Amino Acid Decarboxylase Deficiency
Tetrahydrobiopterin Deficiency
Tetrahydrobiopterin Deficiency with Hyperphenylalaninemia
Tetrahydrobiopterin Deficiency Without Hyperphenylalaninemia
Hereditary Progressive Dystonia, Autosomal Dominant Dopa-Responsive Dystonia, Segawa Syndrome, Autosomal Dominant Form
Sepiapterin Reductase Deficiency
Dopamine β-Hydroxylase Deficiency
Monoamine Oxidase (MAO) Deficiency
γ-Aminobutyric Acid (GABA)
γ-Aminobutyric Acid Transaminase Deficiency
Succinic Semialdehyde Dehydrogenase Deficiency (γ-Hydroxybutyric Aciduria)
Defects in Neurotransmitters Transporter Proteins
Dopamine Transporter Protein Deficiency
Dopamine–Serotonin Vesicular Transporter Disease (Vesicular Monoamine Transporter Deficiency)
Histidine Decarboxylase Deficiency
Hyperprolinemia
3-Phosphoglycerate Dehydrogenase Deficiency
Phosphoserine Aminotransferase Deficiency
Nonketotic Hyperglycinemia
Bibliography
85.12 Urea Cycle and Hyperammonemia (Arginine, Citrulline, Ornithine)
Genetic Causes of Hyperammonemia
Clinical Manifestations of Hyperammonemia
Diagnosis
Treatment of Acute Hyperammonemia
Long-Term Therapy
Carbamyl Phosphate Synthetase and N-Acetylglutamate Synthetase Deficiencies
Ornithine Transcarbamylase Deficiency
Argininosuccinate Synthetase (ASS) Deficiency (Citrullinemia)
Citrullinemia Type I (Classic Citrullinemia)
Citrullinemia Resulting From Citrin Deficiency (Citrullinemia Type II)
Neonatal Intrahepatic Cholestasis (Citrullinemia Type II—Neonatal Form)
Citrullinemia Type II, Adult Form (Adult-Onset Citrullinemia, Citrullinemia Type II—Mild Form)
Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)
Arginase Deficiency (Hyperargininemia)
Transient Hyperammonemia of the Newborn
Ornithine
Gyrate Atrophy of the Retina and Choroid
Hyperammonemia-Hyperornithinemia-Homocitrullinemia Syndrome
Bibliography
85.13 Histidine
Bibliography
85.14 Lysine
Pyridoxine (Vitamin B6)-Dependent Epilepsy
Antiquitin (α-Aminoadipic Semialdehyde Dehydrogenase) Deficiency
Sulfite Oxidase Deficiency (Molybdenum Cofactor Deficiency)
Hyperprolinemia Type II
Hypophosphatasia
Glutaric Aciduria Type I
Clinical Manifestations
Laboratory Findings
Treatment
Lysinuric Protein Intolerance (Familial Protein Intolerance)
Bibliography
85.15 Aspartic Acid (Canavan Disease)
Etiology and Pathology
Clinical Manifestations
Atypical Canavan Disease
Diagnosis
Treatment and Prevention
Bibliography
Chapter 86: Defects in Metabolism of Lipids
86.1 Disorders of Mitochondrial Fatty Acid β-Oxidation
Defects in the β-Oxidation Cycle
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Clinical Manifestations
Laboratory Findings
Treatment
Prognosis
Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase/Mitochondrial Trifunctional Protein Deficiency
Short-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
Defects in the Carnitine Cycle
Plasma Membrane Carnitine Transport Defect (Primary Carnitine Deficiency)
Carnitine Palmitoyltransferase-IA Deficiency
Carnitine:Acylcarnitine Translocase Deficiency
Carnitine Palmitoyltransferase-II Deficiency
Defects in the Electron Transfer Pathway
Electron Transfer Flavoprotein and Electron Transfer Flavoprotein Dehydrogenase Deficiencies (Glutaric Acidemia Type 2, Multiple Acyl-Coenzyme A Dehydrogenation Defects)
Defects in Ketone Synthesis Pathway
β-Hydroxy-β-Methylglutaryl-Coenzyme A Synthase Deficiency
β-Hydroxy-β-Methylglutaryl-Coenzyme A Lyase Deficiency
Defects in Ketone Body Utilization
Succinyl-Coenzyme A:3-Ketoacid-Coenzyme A Transferase Deficiency
β-Ketothiolase Deficiency
Bibliography
86.2 Disorders of Very Long Chain Fatty Acids
Peroxisomal Disorders
Etiology
Epidemiology
Pathology
Pathogenesis
Peroxisomal Biogenesis Disorders with Milder or Atypical Phenotypes
Rhizomelic Chondrodysplasia Punctata
Isolated Defects of Peroxisomal Fatty Acid Oxidation
Isolated Defects of Plasmalogen Synthesis
Classic Refsum Disease
2-Methylacyl-Coenzyme A Racemase Deficiency
Laboratory Findings
Level 1: Does the Patient Have a Peroxisomal Disorder?
Level 2: What Is the Precise Nature of the Peroxisomal Disorder?
Level 3: What Is the Molecular Defect?
Diagnosis
Complications
Treatment
Genetic Counseling
Adrenoleukodystrophy (X-Linked)
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory and Radiographic Findings
Neuroimaging
Impaired Adrenal Function
Diagnosis and Differential Diagnosis
Complications
Treatment
Bone Marrow Transplantation
Lorenzo’s Oil Therapy
Supportive Therapy
Genetic Counseling and Prevention
Bibliography
Peroxisomal Disorders
Adrenoleukodystrophy (X-Linked)
86.3 Disorders of Lipoprotein Metabolism and Transport
Epidemiology of Blood Lipids and Cardiovascular Disease
Blood Lipids and Atherogenesis
Plasma Lipoprotein Metabolism and Transport
Transport of Exogenous (Dietary) Lipids
Transport of Endogenous Lipids from the Liver
High-Density Lipoprotein and Reverse Cholesterol Transport
Hyperlipoproteinemias
Hypercholesterolemia
Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Heterozygous Familial Hypercholesterolemia
Familial Defective ApoB-100
Autosomal Recessive Hypercholesterolemia
Sitosterolemia
Polygenic Hypercholesterolemia
Hypercholesterolemia with Hypertriglyceridemia
Familial Combined Hyperlipidemia
Familial Dysbetalipoproteinemia (Type III Hyperlipoproteinemia)
Hypertriglyceridemias
Familial Chylomicronemia (Type I Hyperlipidemia)
Familial Hypertriglyceridemia (Type IV Hyperlipidemia)
Hepatic Lipase Deficiency
Disorders of High-Density Lipoprotein Metabolism
Primary Hypoalphalipoproteinemia
Familial Hyperalphalipoproteinemia
Familial Apolipoprotein A-I Deficiency
Tangier Disease
Familial Lecithin–Cholesterol Acyltransferase Deficiency
Cholesteryl Ester Transfer Protein Deficiency
Conditions Associated with Low Cholesterol
Abetalipoproteinemia
Familial Hypobetalipoproteinemia
Smith-Lemli-Opitz Syndrome
Disorders of Intracellular Cholesterol Metabolism
Cerebrotendinous Xanthomatosis
Wolman Disease and Cholesterol Ester Storage Disease
Niemann-Pick Disease Type C
Lipoprotein Patterns in Children and Adolescents
Blood Cholesterol Screening
Risk Assessment and Treatment of Hyperlipidemia
Pharmacologic Therapy.
Bibliography
86.4 Lipidoses (Lysosomal Storage Disorders)
GM1 Gangliosidosis
The GM2 Gangliosidoses
Gaucher Disease
Niemann-Pick Disease
Fabry Disease
Fucosidosis
Schindler Disease
Metachromatic Leukodystrophy
Multiple Sulfatase Deficiency
Krabbe Disease
Farber Disease
Wolman Disease and Cholesterol Ester Storage Disease
Bibliography
86.5 Mucolipidoses
I-Cell Disease
Pseudo-Hurler Polydystrophy
Bibliography
Chapter 87: Defects in Metabolism of Carbohydrates
87.1 Glycogen Storage Diseases
Liver Glycogenoses
Type I Glycogen Storage Disease (Glucose-6-Phosphatase or Translocase Deficiency, Von Gierke Disease)
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Type III Glycogen Storage Disease (Debrancher Deficiency, Limit Dextrinosis)
Clinical Manifestations
Diagnosis
Treatment
Type IV Glycogen Storage Disease (Branching Enzyme Deficiency, Amylopectinosis, or Andersen Disease)
Clinical Manifestations
Diagnosis
Treatment
Type VI Glycogen Storage Disease (Liver Phosphorylase Deficiency, Hers Disease)
Type IX Glycogen Storage Disease (Phosphorylase Kinase Deficiency)
X-Linked Liver Phosphorylase Kinase Deficiency
Autosomal Liver and Muscle Phosphorylase Kinase Deficiency
Autosomal Liver Phosphorylase Kinase Deficiency
Muscle-Specific Phosphorylase Kinase Deficiency
Phosphorylase Kinase Deficiency Limited to Heart
Diagnosis
Treatment
Glycogen Synthase Deficiency
Muscle Glycogen Synthase Deficiency
Hepatic Glycogenosis with Renal Fanconi Syndrome (Fanconi-Bickel Syndrome)
Muscle Glycogenoses
Type II Glycogen Storage Disease (Lysosomal Acid α-1,4-Glucosidase Deficiency, Pompe Disease)
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Glycogen Storage Diseases Mimicking Hypertrophic Cardiomyopathy
Type V Glycogen Storage Disease (Muscle Phosphorylase Deficiency, McArdle Disease)
Clinical Manifestations
Diagnosis
Treatment
Type VII Glycogen Storage Disease (Muscle Phosphofructokinase Deficiency, Tarui Disease)
Clinical Manifestations
Diagnosis
Treatment
Other Muscle Glycogenoses with Muscle Energy Impairment
Bibliography
87.2 Defects in Galactose Metabolism
Galactose-1-Phosphate Uridyl Transferase Deficiency Galactosemia
Clinical Manifestations
Diagnosis
Genetics
Treatment and Prognosis
Galactokinase Deficiency
Uridine Diphosphate Galactose-4-Epimerase Deficiency
Bibliography
87.3 Defects in Fructose Metabolism
Deficiency of Fructokinase (Essential or Benign Fructosuria)
Deficiency of Fructose-1,6-Bisphosphate Aldolase (Aldolase B, Hereditary Fructose Intolerance)
Epidemiology and Genetics
Clinical Manifestations
Diagnosis
Treatment
Bibliography
87.4 Defects in Intermediary Carbohydrate Metabolism Associated with Lactic Acidosis
Disorders of Gluconeogenesis
Deficiency of Glucose-6-Phosphatase (Type I Glycogen Storage Disease)
Fructose-1,6-Diphosphatase Deficiency
Phosphoenolpyruvate Carboxykinase Deficiency
Disorders of Pyruvate Metabolism
Pyruvate Dehydrogenase Complex Deficiency
Clinical Manifestations
Treatment
Deficiency of Pyruvate Carboxylase
Deficiency of Pyruvate Carboxylase Secondary to Deficiency of Holocarboxylase Synthase or Biotinidase
Mitochondrial Respiratory Chain Defects (Oxidative Phosphorylation Disease)
Leigh Disease (Subacute Necrotizing Encephalomyelopathy)
Bibliography
87.5 Defects in Pentose Metabolism
Essential Pentosuria
Transaldolase Deficiency
Ribose-5-Phosphate Isomerase Deficiency
Bibliography
87.6 Disorders of Glycoprotein Degradation and Structure
Sialidosis and Galactosialidosis
Aspartylglucosaminuria
α-Mannosidosis
Congenital Disorders of Glycosylation
Bibliography
Chapter 88: Mucopolysaccharidoses
Clinical Entities
Mucopolysaccharidosis I
Hurler Disease
Hurler-Scheie Disease
Scheie Disease
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Mucopolysaccharidosis VII
Mucopolysaccharidosis IX
Diagnosis and Differential Diagnosis
Treatment
Bibliography
Chapter 89: Disorders of Purine and Pyrimidine Metabolism
Gout
Genetics
Treatment
Abnormalities in Purine Salvage
HPRT Deficiency
Genetics
Pathology
Clinical Manifestations
Diagnosis
Treatment
Adenine Phosphoribosyltransferase Deficiency (Dihydroxyadeninuria)
Genetics
Clinical Manifestations
Laboratory
Treatment
Disorders Linked to Purine Nucleotide Synthesis
Phosphoribosylpyrophosphate Synthetase Superactivity and Deficiency
Genetics
Clinical Manifestations
Laboratory
Treatment
Adenylosuccinate Lyase Deficiency (Succinylpurinuria)
Genetics
Clinical Manifestations
Pathology
Treatment
Aminoimidazole Carboxamide Ribotide Transformylase/Inosine Monophosphate Cyclohydrolase Deficiency
Genetics
Clinical Features
Laboratory
Treatment
Disorders Resulting from Abnormalities in Purine Catabolism
Myoadenylate Deaminase Deficiency (Muscle Adenosine Monophosphate Deaminase Deficiency)
Clinical Manifestations
Genetics
Laboratory
Treatment
Adenosine Deaminase Deficiency
Purine Nucleoside Phosphorylase Deficiency
Xanthine Oxidoreductase Deficiency (Hereditary Xanthinuria/Molybdenum Cofactor Deficiency)
Genetics
Laboratory
Treatment
Disorders of Pyrimidine Metabolism
Uridine Monophosphate Synthase Type 1 Deficiency (Hereditary Orotic Aciduria)
Genetics
Clinical
Laboratory
Treatment
Dihydropyrimidine Dehydrogenase Deficiency (Thymine-Uraciluria, Pyrimidinuria)
Genetics
Laboratory
Treatment
Dihydropyrimidinase Deficiency (Dihydropyrimidinuria)
Genetics
Clinical
Laboratory
Deficiency of β-Ureidopropionase (N-Carbamyl-β-Amino Aciduria)
Genetics
Clinical
Laboratory
Treatment
Pyrimidine 5’-Nucleotidase Deficiency
Genetics
Laboratory
Treatment
Overactive Cytosolic 5’-Nucleotidase (Pyrimidine Nucleotide Depletion)
Clinical
Treatment
Thymidine Phosphorylase Deficiency (Mitochondrial Neurogastrointestinal Encephalomyopathy)
Genetics
Clinical Manifestations
Laboratory
Treatment
Thymidine Kinase 2 Deficiency
Genetics
Clinical
Treatment
Acknowledgments
Bibliography
Gout
Abnormalities in Purine Salvage
Adenine Phosphoribosyltransferase Deficiency (Dihydroxyadeninuria)
Disorders Linked to Purine Nucleotide Synthesis
Adenylosuccinate Lyase Deficiency (Succinylpurinuria)
Aicar Transformylase/Imp Cyclohydrolase (ATIC) Deficiency (Aica-Ribosiduria)
Disorders Resulting from Abnormalities in Purine Catabolism
Xanthine Oxidoreductase Deficiency (Hereditary Xanthinuria/Molybdenum Cofactor Deficiency)
Disorders of Pyrimidine Metabolism
Dihydropyrimidine Dehydrogenase Deficiency (Thymine-Uraciluria, Pyrimidinuria)
Dihydropyrimidinase Deficiency (Dihydropyrimidinuria)
Deficiency of Beta-Ureidopropionase (N-Carbamyl-Beta-Amino Aciduria)
Pyrimidine 5′-Nucleotidase Deficiency
Overactive Cytosolic 5′ Nucleotidase (Pyrimidine Nucleotide Depletion)
Thymidine Phosphorylase Deficiency (Mitochondrial Neurogastrointestinal Encephalomyopathy-MNGIE)
Thymidine Kinase 2 (TK2) Deficiency
Chapter 90: Hutchinson-Gilford Progeria Syndrome
Clinical Manifestations
Dermatologic Changes
Failure to Thrive
Ocular Abnormalities
Dental Abnormalities
Bone and Cartilaginous Abnormalities
Hearing
Cardiovascular Disease
Cerebrovascular Arteriopathy and Stroke
Normally Functioning Systems
Laboratory Findings
Molecular Pathogenesis
Diagnosis and Differential Diagnosis
Prognosis, Treatment, and Patient Resources
Bibliography
Chapter 91: The Porphyrias
The Heme Biosynthetic Pathway
Classification and Diagnosis of Porphyrias
First-Line Laboratory Diagnostic Testing
Blistering Cutaneous Porphyrias
Nonblistering Cutaneous Porphyria
Second-Line Testing
Testing for Subclinical Porphyria
δ-Aminolevulinic Acid Dehydratase Porphyria
Etiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Prevention and Genetic Counseling
Acute Intermittent Porphyria
Etiology
Pathology and Pathogenesis
Neurologic Mechanisms
Epidemiology
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Hemin
General and Supportive Measures
Carbohydrate Loading
Other Therapies
Seizures and Other Complications
Safe and Unsafe Drugs
Other Situations
Prognosis
Prevention
Genetic Counseling
Congenital Erythropoietic Porphyria
Etiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Prevention and Genetic Counseling
Porphyria Cutanea Tarda
Etiology
Epidemiology
Pathology and Pathogenesis
Susceptibility Factors
Iron
Hepatitis C
HIV
Ethanol
Smoking and Cytochrome P450 Enzymes
Antioxidant Status
Estrogens
Clinical Manifestations
Cutaneous Manifestations
Liver Abnormalities
Other Findings and Associations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prognosis
Prevention and Genetic Counseling
Hepatoerythropoietic Porphyria
Etiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment and Prognosis
Prevention and Genetic Counseling
Hereditary Coproporphyria
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment and Prognosis
Prevention and Genetic Counseling
Variegate Porphyria
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prognosis and Prevention
Genetic Counseling
Erythropoietic Protoporphyria
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prognosis
Prevention
Genetic Counseling
Dual Porphyria
Porphyria Resulting from Tumors
Bibliography
General
Acute Porphyrias
Congenital Erythropoietic Porphyria
Porphyria Cutanea Tarda
Erythropoietic Protoporphyria
Chapter 92: Hypoglycemia
Definition
Significance and Sequelae
Substrate, Enzyme, and Hormonal Integration of Glucose Homeostasis
In the Newborn
In Older Infants and Children
Clinical Manifestations
Classification of Hypoglycemia in Infants and Children
Neonatal, Transient, Small for Gestational Age, and Premature Infants
Infants Born to Diabetic Mothers
Persistent or Recurrent Hypoglycemia in Infants and Children
Hyperinsulinism
Endocrine Deficiency
Substrate Limited
Ketotic Hypoglycemia
Branched-Chain Ketonuria (Maple Syrup Urine Disease)
Glycogen Storage Disease
Glucose-6-Phosphatase Deficiency (Type I Glycogen Storage Disease)
Amylo-1,6-Glucosidase Deficiency (Debrancher Enzyme Deficiency; Type III Glycogen Storage Disease)
Liver Phosphorylase Deficiency (Type VI Glycogen Storage Disease)
Glycogen Synthetase Deficiency
Disorders of Gluconeogenesis
Fructose-1,6-Diphosphatase Deficiency
Defects in Fatty Acid Oxidation
Acute Alcohol Intoxication
Salicylate Intoxication
Phosphoenolpyruvate Carboxykinase Deficiency
Pyruvate Carboxylase Deficiency
Other Enzyme Defects
Galactosemia (Galactose-1-Phosphate Uridyl Transferase Deficiency)
Fructose Intolerance (Fructose-1-Phosphate Aldolase Deficiency)
Defects in Glucose Transporters
Glut-1 Deficiency
Glut-2 Deficiency
Systemic Disorders
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Bibliography
Part XII: The Fetus and the Neonatal Infant
Chapter 93: Overview of Mortality and Morbidity
Bibliography
Chapter 94: The Newborn Infant
94.1 History in Neonatal Pediatrics
94.2 Physical Examination of the Newborn Infant
General Appearance
Skin
Skull
Face
Eyes
Ears
Nose
Mouth
Neck
Chest
Lungs
Heart
Abdomen
Genitals
Anus
Extremities
Neurologic Examination
Bibliography
94.3 Routine Delivery Room and Initial Care
Maintenance of Body Heat
Antiseptic Skin and Cord Care
Other Measures
Bibliography
94.4 Nursery Care
Bibliography
94.5 Parent–Infant Bonding
Nurseries and Breastfeeding
Drugs and Breastfeeding
Contraindications to Breastfeeding
Bibliography
Chapter 95: High-Risk Pregnancies
Genetic Factors
Maternal Factors
Bibliography
Chapter 96: The Fetus
96.1 Fetal Growth and Maturity
Bibliography
96.2 Fetal Distress
Bibliography
96.3 Maternal Disease and the Fetus
Infectious Diseases
Noninfectious Diseases
Bibliography
96.4 Maternal Medication and Toxin Exposure and the Fetus
Bibliography
96.5 Teratogens
Bibliography
96.6 Radiation
Bibliography
96.7 Intrauterine Diagnosis of Fetal Disease
Bibliography
96.8 Treatment and Prevention of Fetal Disease
Bibliography
Chapter 97: The High-Risk Infant
97.1 Multiple-Gestation Pregnancies
Incidence
Etiology
Monozygotic Versus Dizygotic Twins
Examination of the Placenta
Postnatal Identification
Prognosis
Treatment
Bibliography
97.2 Prematurity and Intrauterine Growth Restriction
Definitions
Incidence
Very Low Birthweight Infants
Factors Related to Premature Birth and Low Birthweight
Assessment of Gestational Age at Birth
Spectrum of Disease in Low-Birthweight Infants
Nursery Care
Thermal Control
Fluid Requirements
Parenteral Nutrition
Feeding
Initiation of Feeding
Vitamins
Prevention of Infection
Immaturity of Drug Metabolism
Prognosis
Predicting Neonatal Mortality
Discharge From the Hospital
Home Care
Bibliography
97.3 Postterm Infants
Clinical Manifestations
Prognosis
Management
97.4 Large-for-Gestational-Age Infants
97.5 Infant Transport
Bibliography
Chapter 98: Clinical Manifestations of Diseases in the Newborn Period
Congenital Anomalies
Bibliography
Chapter 99: Nervous System Disorders
99.1 The Cranium
99.2 Traumatic, Epidural, Subdural, and Subarachnoid Hemorrhage
99.3 Intracranial–Intraventricular Hemorrhage and Periventricular Leukomalacia
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Prognosis
Prevention
Treatment
Bibliography
99.4 Brain Injury from Inflammation, Infection, and Medications
Bibliography
99.5 Hypoxic–Ischemic Encephalopathy
Etiology
Pathophysiology and Pathology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
99.6 Spine and Spinal Cord
Bibliography
99.7 Peripheral Nerve Injuries
Brachial Palsy
Phrenic Nerve Paralysis
Facial Nerve Palsy
Bibliography
Chapter 100: Delivery Room Emergencies
Respiratory Distress and Failure
Failure to Initiate or Sustain Respiration
Neonatal Resuscitation
Meconium
Shock
Pneumothorax
Airway Obstruction
Abdominal Wall Defects
Injury during Delivery
Central Nervous System
Viscera
Fractures
Clavicle
Extremities
Nose
Bibliography
Chapter 101: Respiratory Tract Disorders
101.1 Transition to Pulmonary Respiration
The First Breath
Breathing Patterns in Newborns
101.2 Apnea
Clinical Manifestations
Treatment
Prognosis
Apnea and Sudden Infant Death Syndrome
Bibliography
101.3 Respiratory Distress Syndrome (Hyaline Membrane Disease)
Incidence
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Prevention
Treatment
Pharmacologic Therapies
Complications of Respiratory Distress Syndrome and Intensive Care
Prognosis
Bibliography
101.4 Transient Tachypnea of the Newborn
Bibliography
101.5 Aspiration of Foreign Material (Fetal Aspiration Syndrome, Aspiration Pneumonia)
101.6 Meconium Aspiration
Clinical Manifestations
Prevention
Treatment
Prognosis
Bibliography
101.7 Persistent Pulmonary Hypertension of the Newborn (Persistent Fetal Circulation)
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Extracorporeal Membrane Oxygenation
Prognosis
Bibliography
101.8 Diaphragmatic Hernia
Congenital Diaphragmatic Hernia (Bochdalek)
Pathology and Etiology
Epidemiology
Diagnosis and Clinical Presentation
Treatment
Initial Management
Ventilation Strategies
Extracorporeal Membrane Oxygenation
Novel Strategies for Infants with Congenital Diaphragmatic Hernia
Surgical Repair
Outcome and Long-Term Survival
Bibliography
101.9 Foramen of Morgagni Hernia
101.10 Paraesophageal Hernia
101.11 Eventration
Bibliography
101.12 Extrapulmonary Air Leaks (Pneumothorax, Pneumomediastinum, Pulmonary Interstitial Emphysema, Pneumopericardium)
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
101.13 Pulmonary Hemorrhage
Bibliography
Chapter 102: Digestive System Disorders
Vomiting
Diarrhea
Constipation
Meconium Plugs
102.1 Meconium Ileus in Cystic Fibrosis
Meconium Peritonitis
102.2 Necrotizing Enterocolitis
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
102.3 Jaundice and Hyperbilirubinemia in the Newborn
Etiology
Clinical Manifestations
Differential Diagnosis
Physiologic Jaundice (Icterus Neonatorum)
Pathologic Hyperbilirubinemia
Jaundice Associated with Breast-Feeding
Neonatal Hepatitis
Congenital Atresia of the Bile Ducts
Inspissated Bile Syndrome
Bibliography
102.4 Kernicterus
Clinical Manifestations
Incidence and Prognosis
Prevention
Treatment of Hyperbilirubinemia
Phototherapy
Intravenous Immunoglobulin
Metalloporphyrins
Exchange Transfusion
Bibliography
Chapter 103: Blood Disorders
103.1 Anemia in the Newborn Infant
Bibliography
103.2 Hemolytic Disease of the Newborn (Erythroblastosis Fetalis)
Hemolytic Disease of the Newborn Caused by Rh Incompatibility
Pathogenesis
Clinical Manifestations
Laboratory Data
Diagnosis
Antenatal Diagnosis
Postnatal Diagnosis
Treatment
Treatment of an Unborn Infant
Treatment of a Liveborn Infant
Exchange Transfusion
Intravenous Immunoglobulin
Late Complications
Prevention of Rh Sensitization
Hemolytic Disease of the Newborn Caused by Blood Group a and B Incompatibility
Clinical Manifestations
Diagnosis
Treatment
Other Forms of Hemolytic Disease
Bibliography
103.3 Plethora in the Newborn Infant (Polycythemia)
Bibliography
103.4 Hemorrhage in the Newborn Infant
Hemorrhagic Disease of the Newborn
Neonatal Thrombocytopenic Purpura
Bibliography
Chapter 104: Genitourinary System
Renal Vein Thrombosis
Circumcision
Bibliography
Chapter 105: The Umbilicus
Umbilical Cord
Congenital Omphalocele
Tumors
Hemorrhage
Granuloma
Infections
Umbilical Hernia
Bibliography
Chapter 106: Metabolic Disturbances
Hyperthermia in the Newborn
Neonatal Cold Injury
Edema
Hypocalcemia (Tetany)
Metabolic Bone Disease
Hypomagnesemia
Hypermagnesemia
Substance Abuse and Neonatal Abstinence (Withdrawal)
Treatment
106.1 Maternal Selective Serotonin Reuptake Inhibitors and Neonatal Behavioral Syndromes
106.2 Fetal Alcohol Syndrome
Bibliography
Chapter 107: The Endocrine System
107.1 Infants of Diabetic Mothers
Pathophysiology
Clinical Manifestations
Treatment
Prognosis
Bibliography
Bibliography
Chapter 108: Dysmorphology
Classification of Birth Defects
Malformations and/or Dysplasias
Deformations
Multiple Anomalies: Syndrome and Sequence
Disruption
Molecular Mechanisms of Malformations
Inborn Errors of Development
Sonic Hedgehog Pathway as Model
Chromosomal Imbalances
Approach to the Dysmorphic Child
History
Physical Examination
Imaging Studies
Laboratory Studies
Diagnosis
Management and Counseling
Bibliography
Chapter 109: Infections of the Neonatal Infant
109.1 Pathogenesis and Epidemiology
Bibliography
109.2 Modes of Transmission and Pathogenesis
Pathogenesis of Intrauterine Infection
Pathogenesis of Ascending Bacterial Infection
Pathogenesis of Late-Onset Postnatal Infections
Bibliography
109.3 Immunity
Immunoglobulin
Complement
Neutrophils
Neutrophil Function
Neutrophil Number
Natural Killer Cells
Cytokines/Inflammatory Mediators
Bibliography
109.4 Etiology of Fetal and Neonatal Infection
Bibliography
109.5 Epidemiology of Early- and Late-Onset Neonatal Infections
Prematurity
Bibliography
109.6 Healthcare–Associated Infections (HAI)
Bibliography
109.7 Clinical Manifestations of Transplacental Intrauterine Infections
Bacterial Sepsis
Systemic Inflammatory Response Syndrome
Fever
Rash
Omphalitis
Tetanus
Pneumonia
Bibliography
109.8 Intrapartum and Peripartum Infections
Suspected Intrauterine Infection
Bibliography
109.9 Suspected Bacterial or Fungal Infections
Pneumonia and Pneumonitis
Meningitis
Bibliography
109.10 Management
Empiric Therapy
Directed Therapy
Antimicrobial Resistance
Bacteremia
Pneumonia
Meningitis
Adjunctive Therapies
Bibliography
109.11 Complications and Prognosis
Bibliography
109.12 Prevention
Maternal Strategies
Antifungal Prophylaxis
Other Strategies for Prevention of Healthcare-Associated Infections
Antimicrobial Stewardship
Bibliography
Part XIII: Adolescent Medicine
Chapter 110: Adolescent Development
110.1 Adolescent Physical and Social Development
Physical Development
Sexual Development
Somatic Growth (See Also Fig. 13-1)
Neurologic, Cognitive, and Moral Development
Psychosocial Development
Implications for Providers and Parents
Bibliography
110.2 Sexual Identity Development
Terms and Definitions
Sex and Sexual Identity
Sex Assigned at Birth
Gender Identity, Gender Role, and Social Sex Role
Sexual Orientation and Behavior
Gender Variant and Transgender
Factors That Influence Sexual Identity Development
Gender Variance/Gender Role Nonconformity among Children and Adolescents
Prevalence
Etiology of Gender-Variant Behavior
Stigma, Stigma Management, and Advocacy
Gender-Variant and Transgender Identity Among Children and Adolescents
Prevalence
Etiology of a Gender Variant Identity
Clinical Presentation
The Diagnosis of Gender Dysphoria: Criteria and Critique
Transgender Identity Development
Interventions and Treatment
Bibliography
110.3 Gay, Lesbian, and Bisexual Adolescents
Definitions
Prevalence of Homosexuality and Bisexuality in Youth
Development of Sexual Orientation in Childhood and Adolescence
Stigma, Risk, and Resilience
Health and Mental Health
Depression and Suicidality
Sexually Transmitted Infections
Substance Abuse
Obesity and Disordered Eating
Psychosocial Problems
Recommendations for Care
Evaluation
Medical and Sexual Health
Mental Health
Bibliography
Chapter 111: The Epidemiology of Adolescent Health Problems
Access to Healthcare
Bibliography
Chapter 112: Delivery of Healthcare to Adolescents
112.1 Legal Issues
Bibliography
112.2 Screening Procedures
Interviewing the Adolescent
Psychosocial Assessment
Physical Examination
Vision Testing
Audiometry
Blood Pressure Determination
Scoliosis
Breast Examination
Scrotum Examination
Pelvic Examination
Laboratory Testing
Bibliography
112.3 Transitioning to Adult Care
Bibliography
Bibliography
Chapter 113: Violent Behavior
Epidemiology
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 114: Substance Abuse
Etiology
Epidemiology
Clinical Manifestations
Screening for Substance Abuse Disorders
Diagnosis
Complications
Treatment
Prognosis
Prevention
Bibliography
114.1 Alcohol
Pharmacology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
114.2 Tobacco
Cigarettes
Pharmacology
Clinical Manifestations
Electronic Cigarettes (E-Cigarettes)
Smokeless Tobacco
Treatment
Bibliography
114.3 Marijuana
Clinical Manifestations
Synthetic Marijuana
Bibliography
114.4 Inhalants
Clinical Manifestations
Complications
Diagnosis
Treatment
Bibliography
114.5 Hallucinogens
Lysergic Acid Diethylamide
Clinical Manifestations
Treatment
Methylenedioxymethamphetamine
Clinical Manifestations
Phencyclidine
Clinical Manifestations
Treatment
Bibliography
114.6 Cocaine
Clinical Manifestations
Treatment
Bibliography
114.7 Amphetamines
Clinical Manifestations
Treatment
Bibliography
114.8 Opiates
Clinical Manifestations
Withdrawal
Overdose Syndrome
Treatment
Bibliography
114.9 Bath Salts
Bibliography
Chapter 115: The Breast
Female Disorders
Male Disorders
Bibliography
Chapter 116: Menstrual Problems
Normal Menstruation
Menstrual Irregularities
Bibliography
116.1 Amenorrhea
History and Physical Examination
Laboratory Studies
Treatment
Bibliography
116.2 Abnormal Uterine Bleeding (AUB)
Irregular Menstrual Bleeding
Heavy and Prolonged Menstrual Bleeding
Laboratory Findings
Treatment
Bibliography
116.3 Dysmenorrhea
Bibliography
116.4 Premenstrual Syndrome and Premenstrual Dysphoric Disorder
Bibliography
Chapter 117: Contraception
Epidemiology
Sexual Activity
Contraceptive Use
Contraceptive Counseling
Bibliography
117.1 Long-Acting Reversible Contraception
Intrauterine Devices
Implants
Bibliography
Product Information
117.2 Other Progestin-Only Methods
Depo-Provera
Progestin-Only Pills
Bibliography
117.3 Combined Hormonal Contraceptives
Combined Oral Contraceptives
Transdermal Patch
Vaginal Ring
Bibliography
117.4 Emergency Contraception
Copper IUD
Ulipristal Acetate
Levonorgestrel
Bibliography
117.5 Dual Protection
Condoms
Bibliography
117.6 Other Barrier Methods
Diaphragm, Cervical Cap, and Sponge
117.7 Other Methods
Spermicides
Withdrawal
Fertility Awareness–Based Methods
Lactational Amenorrhea Method
Bibliography
Chapter 118: Adolescent Pregnancy
Epidemiology
Etiology
Clinical Manifestations
Diagnosis
Pregnancy Counseling and Initial Management
Characteristics of Teen Parents
Medical Complications of Mothers and Babies
Psychosocial Outcomes/Risks for Mother and Child
Educational
Substance Use
Repeat Pregnancy
Behavioral, Educational, and Social Outcomes of Children Born to Teen Mothers
Prevention of Teen Pregnancies
Bibliography
Chapter 119: Adolescent Rape
Epidemiology
Types of Rape
Clinical Manifestations
Interview and Physical Examination
Laboratory Data
Treatment
Prevention
Bibliography
Chapter 120: Sexually Transmitted Infections
Etiology
Epidemiology
Pathogenesis
Sexually Transmitted Infection Screening
Definitions, Etiology, and Clinical Manifestations
Urethritis
Epididymitis
Vaginitis
Cervicitis
Pelvic Inflammatory Disease
Genital Ulcer Syndromes
Genital Lesions and Ectoparasites
HIV Disease and Hepatitis B
Diagnosis
Treatment
Prevention
Bibliography
Chapter 121: Chronic Fatigue Syndrome
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Management
Prognosis
Bibliography
Part XIV: Immunology
Section 1: Evaluation of the Immune System
Chapter 122: Evaluation of Suspected Immunodeficiency
B Cells
T Cells
Natural Killer Cells
Phagocytic Cells
Complement
Bibliography
Section 2: The T-, B-, and NK-Cell Systems
Chapter 123: T Lymphocytes, B Lymphocytes, and Natural Killer Cells
Lymphopoiesis in the Fetus
Origin of the Lymphoid System
T-Cell Development and Differentiation
B-Cell Development and Differentiation
Natural Killer–Cell Development
Immune Cell Interactions
Postnatal Lymphopoiesis
T Cells and T-Cell Subsets
B Cells and Immunoglobulins
Natural Killer Cells
Lymphoid Organ Development
Inheritance of Abnormalities in T-, B-, and Natural Killer–Cell Development
Prenatal Diagnosis and Carrier Detection
Bibliography
Chapter 124: Primary Defects of Antibody Production
X-Linked Agammaglobulinemia
Genetics and Pathogenesis
Clinical Manifestations
Diagnosis
Common Variable Immunodeficiency
Genetics and Pathogenesis
Clinical Manifestations
Selective IgA Deficiency
Clinical Manifestations
IgG Subclass Deficiencies
Immunoglobulin Heavy- and Light-Chain Deletions
Hyper-IgM Syndrome
X-Linked Hyper-IgM Caused By Mutations in the CD40 Ligand: Hyper-IgM Type 1
Genetics and Pathogenesis
Clinical Manifestations
X-Linked Hyper-IgM Caused By Mutations in the Gene Encoding Nuclear Factor κB Essential Modulator; XHM-ED
Autosomal Recessive Hyper-IgM Caused By Mutations in the Gene for Activation-Induced Cytidine Deaminase: Hyper-IgM Type 2
Genetics and Pathogenesis
Clinical Manifestations
Autosomal Recessive Hyper-IgM Caused By Mutations in the Gene for Uracil DNA Glycosylase; Hyper-IgM Type 5
Genetics and Pathogenesis
Autosomal Recessive Hyper-IgM Caused By Mutations in CD40: Hyper-IgM Type 3
Genetics and Pathogenesis
Hyper-IgM Type 4
X-Linked Lymphoproliferative Disease
Genetics and Pathogenesis
Clinical Manifestations
CD27 Deficiency
Bibliography
124.1 Treatment of B-Cell Defects
Bibliography
Chapter 125: Primary Defects of Cellular Immunity
Thymic Hypoplasia (Digeorge Syndrome)
Genetics and Pathogenesis
Clinical Manifestations
Treatment
Defective Expression of the T-Cell Receptor–CD3 Complex
T-Cell Activation Defects
CD8 Lymphocytopenia Caused by Mutations in the Gene Encoding Zeta-Associated Protein 70
T-Cell Defects Characterized By Epstein-Barr Virus Lymphoproliferation/Lymphoma
RhoH Deficiency
MST1/STK4 Deficiency
ITK Deficiency
Coronin-1a Deficiency
LCK Deficiency
Chronic Mucocutaneous Candidiasis
Autoimmune Polyendocrinopathy-Candidiasis Ectodermal Dysplasia
Bibliography
Chapter 126: Primary Combined Antibody and Cellular Immunodeficiencies
126.1 Severe Combined Immunodeficiency
Pathogenesis
Clinical Manifestations
Treatment
X-Linked Severe Combined Immunodeficiency Caused by Mutations in the Gene Encoding the Common Cytokine Receptor γ Chain
Autosomal Recessive Severe Combined Immunodeficiency
Adenosine Deaminase Deficiency
Jak3 Deficiency
IL-7Rα Deficiency
RAG1 or RAG2 Deficiencies
Artemis Deficiency
CD45 Deficiency
CD3δ, CD3ε, and CD3ζ Deficiencies
Reticular Dysgenesis
126.2 Combined Immunodeficiency
Purine Nucleoside Phosphorylase Deficiency
Cartilage Hair Hypoplasia
Genetics and Pathogenesis
Clinical Manifestations
Defective Expression of Major Histocompatibility Complex Antigens
Major Histocompatibility Complex Class I Antigen Deficiency
Major Histocompatibility Complex Class II Antigen Deficiency
Immunodeficiency with Thrombocytopenia and Eczema (Wiskott-Aldrich Syndrome)
Genetics and Pathogenesis
Clinical Manifestations
Treatment
Ataxia-Telangiectasia
Genetics and Pathogenesis
Clinical Manifestations
126.3 Defects of Innate Immunity
Interferon-γ Receptors 1 and 2, IL-12 Receptor β1, and IL-12P40 Mutations
Germline STAT-1 Mutation
IL-1R–Associated Kinase 4 Deficiency and Myeloid Differentiation Factor 88
Natural Killer Cell Deficiency
Hyper-IgE Syndromes
Autosomal Dominant Hyper-IgE Syndrome
Genetics and Pathogenesis
Clinical Manifestations
Autosomal Recessive Hyper-IgE Syndrome
Genetics and Pathogenesis
Clinical Manifestations
Treatment
126.4 Treatment of Cellular or Combined Immunodeficiency
126.5 Immune Dysregulation with Autoimmunity or Lymphoproliferation
Autoimmune Lymphoproliferative Syndrome
Clinical Manifestations
Diagnosis
Treatment
Immune-Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome
Clinical Manifestations
Treatment
Bibliography
Section 3: The Phagocytic System
Chapter 127: Neutrophils
The Phagocytic Inflammatory Response
Hematopoiesis
Neutrophil Maturation and Kinetics
Neutrophil Function
Bibliography
Chapter 128: Monocytes, Macrophages, and Dendritic Cells
Development
Activation
Functional Activities
Dendritic Cells
Abnormalities of Monocyte-Macrophage or Dendritic Cell Function
Bibliography
Chapter 129: Eosinophils
Diseases Associated with Eosinophilia
Allergic Diseases
Infectious Diseases
Hypereosinophilic Syndrome
Miscellaneous Diseases
Bibliography
Chapter 130: Disorders of Phagocyte Function
Leukocyte Adhesion Deficiency
Genetics and Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Prognosis
Chédiak-Higashi Syndrome
Genetics and Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Myeloperoxidase Deficiency
Clinical Manifestations
Laboratory Findings
Treatment
Chronic Granulomatous Disease
Genetics and Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Genetic Counseling
Prognosis
Bibliography
Chapter 131: Leukopenia
Neutropenia
Clinical Manifestations of Neutropenia
Laboratory Findings
Acquired Neutropenia
Infection-Related Neutropenia.
Drug-Induced Neutropenia.
Nutrition-Related Neutropenia.
Immune-Mediated Neutropenia.
Neutropenia Secondary to Bone Marrow Replacement.
Neutropenia Secondary to Reticuloendothelial Sequestration.
Inherited Neutropenia
Primary Disorders of Granulocytopoiesis.
Disorders of Molecular Processing.
Vesicular Trafficking Disorders.
Disorders of Metabolism.
Neutropenia in Disorders of Immune Dysfunction.
Unclassified Neutropenic Disorders.
Treatment
Lymphopenia
Acquired Lymphopenia
Inherited Lymphopenia
Bibliography
Chapter 132: Leukocytosis
Neutrophilia
Acute Acquired Neutrophilia
Chronic Acquired Neutrophilia
Lifelong Neutrophilia
Monocytosis
Lymphocytosis
Basophilia
Bibliography
Section 4: The Complement System
Chapter 133: The Complement System
Classical and Lectin Pathways
Alternative Pathway
Membrane Attack Complex
Control Mechanisms
Participation in Host Defense
Bibliography
Chapter 134: Disorders of the Complement System
134.1 Evaluation of the Complement System
Bibliography
134.2 Genetic Deficiencies of Complement Components
Bibliography
134.3 Deficiencies of Plasma, Membrane, or Serosal Complement Control Proteins
Bibliography
134.4 Secondary Disorders of Complement
Bibliography
134.5 Treatment of Complement Disorders
Bibliography
Section 5: Hematopoietic Stem Cell Transplantation
Chapter 135: Principles and Clinical Indications of Hematopoietic Stem Cell Transplantation
Hematopoietic Stem Cell Transplantation From an HLA-Identical Sibling Donor
Acute Lymphoblastic Leukemia
Acute Myeloid Leukemia
Chronic Myelogenous Leukemia
Juvenile Myelomonocytic Leukemia
Myelodysplastic Syndromes Other Than Juvenile Myelomonocytic Leukemia
Non-Hodgkin Lymphoma and Hodgkin Disease
Acquired Aplastic Anemia
Constitutional Aplastic Anemia
Thalassemia
Sickle Cell Disease
Immunodeficiency Disorders
Bibliography
Chapter 136: Hematopoietic Stem Cell Transplantation from Alternative Sources and Donors
Unrelated Donor Transplants
Umbilical Cord Blood Transplants
Haploidentical Transplants
Donor Versus Recipient Natural Killer–Cell Alloreactivity
Autologous Hematopoietic Stem Cell Transplantation
Bibliography
Chapter 137: Graft-Versus-Host Disease, Rejection, and Venoocclusive Disease
Acute Graft-Versus-Host Disease
Chronic Graft-Versus-Host Disease
Venoocclusive Disease
Bibliography
Chapter 138: Infectious Complications of Hematopoietic Stem Cell Transplantation
Chapter 139: Late Effects of Hematopoietic Stem Cell Transplantation
Bibliography
Part XV: Allergic Disorders
Chapter 140: Allergy and the Immunologic Basis of Atopic Disease
Key Elements of Allergic Diseases
Allergens
T Cells
Antigen-Presenting Cells
Immunoglobulin E and its Receptors
Eosinophils
Mast Cells
Mechanisms of Allergic Tissue Inflammation
Genetic Basis of Atopy
Bibliography
Chapter 141: Diagnosis of Allergic Disease
Allergy History
Physical Examination
Diagnostic Testing
In Vitro Tests
In Vivo Tests
Bibliography
Chapter 142: Principles of Treatment of Allergic Disease
Environmental Control Measures
Pharmacologic Therapy
Adrenergic Agents
Anticholinergic Agents
Antihistamines
Chromones
Glucocorticoids
Leukotriene-Modifying Agents
Theophylline
Lodoxamide Tromethamine
Combination Mast Cell Stabilizer and Antihistamine
Antiimmunoglobulin E
Nasal Saline Irrigation
New Therapies
Allergen Immunotherapy
Indications and Contraindications
Allergen Extracts
Allergen Extract Administration
Efficacy
Bibliography
Chapter 143: Allergic Rhinitis
Etiology and Classification
Pathogenesis
Clinical Manifestations
Differential Diagnosis
Complications
Laboratory Findings
Treatment
Prognosis
Bibliography
Chapter 144: Childhood Asthma
Etiology
Genetics
Environment
Epidemiology
Types of Childhood Asthma
Pathogenesis
Clinical Manifestations and Diagnosis
Differential Diagnosis
Laboratory Findings
Pulmonary Function Testing
Radiology
Treatment
Component 1: Regular Assessment and Monitoring
Component 2: Patient Education
Adherence
Component 3: Control of Factors Contributing to Asthma Severity
Eliminating and Reducing Problematic Environmental Exposures
Treating Comorbid Conditions
Component 4: Principles of Asthma Pharmacotherapy
“Step-Up, Step-Down” Approach
Referral to Asthma Specialist
Long-Term Controller Medications
Inhaled Corticosteroids
Systemic Corticosteroids
Long-Acting Inhaled β-Agonists
Leukotriene-Modifying Agents
Nonsteroidal Antiinflammatory Agents
Theophylline
Anti–Immunoglobulin E (Omalizumab)
Quick-Reliever Medications
Short-Acting Inhaled β-Agonists
Anticholinergic Agents
Delivery Devices and Inhalation Technique
Asthma Exacerbations and Their Management
Home Management of Asthma Exacerbations
Emergency Department Management of Asthma Exacerbations
Hospital Management of Asthma Exacerbations
Special Management Circumstances
Management of Infants and Young Children.
Asthma Management in Pregnancy.
Asthma Management During Surgery.
Prognosis
Prevention
Bibliography
Chapter 145: Atopic Dermatitis (Atopic Eczema)
Etiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Cutaneous Hydration
Topical Corticosteroids
Topical Calcineurin Inhibitors
Tar Preparations
Antihistamines
Systemic Corticosteroids
Cyclosporine
Antimetabolites
Phototherapy
Unproven Therapies
Interferon-γ
Omalizumab
Allergen Immunotherapy
Probiotics
Chinese Herbal Medications
Vitamin D
Avoiding Triggers
Irritants
Foods
Aeroallergens
Infections
Complications
Prognosis
Prevention
Bibliography
Chapter 146: Insect Allergy
Etiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Venom Immunotherapy
Inhalant Allergy
Prevention
Bibliography
Chapter 147: Ocular Allergies
Clinical Manifestations
Allergic Conjunctivitis
Vernal Keratoconjunctivitis
Atopic Keratoconjunctivitis
Giant Papillary Conjunctivitis
Contact Allergy
Diagnosis
Treatment
Bibliography
Chapter 148: Urticaria (Hives) and Angioedema
Etiology and Pathogenesis
Physical Urticaria
Cold-Dependent Disorders
Cholinergic Urticaria
Dermatographism
Pressure-Induced Urticaria and Angioedema
Solar Urticaria
Aquagenic Urticaria
Chronic Idiopathic Urticaria and Angioedema
Diagnosis
Treatment
Hereditary Angioedema
Bibliography
Chapter 149: Anaphylaxis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations and Diagnosis
Laboratory Findings
Diagnosis
Treatment
Prevention
Bibliography
Chapter 150: Serum Sickness
Etiology
Pathogenesis
Clinical Manifestations
Differential Diagnosis
Diagnosis
Treatment
Prevention
Bibliography
Chapter 151: Food Allergy and Adverse Reactions to Foods
Pathogenesis
Clinical Manifestations
Gastrointestinal Manifestations
Skin Manifestations
Respiratory Manifestations
Anaphylaxis
Diagnosis
Treatment
Prevention
Bibliography
Chapter 152: Adverse Reactions to Drugs
Epidemiology
Pathogenesis and Clinical Manifestations
Drug Metabolism and Adverse Reactions
Risk Factors for Hypersensitivity Reactions
Diagnosis
Treatment
β-Lactam Hypersensitivity
Sulfonamides
Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis
Hypersensitivity to Antiretroviral Agents
Chemotherapeutic Agents
Biologics
Vaccines
Perioperative Agents
Local Anesthetics
Insulin
Drug-Induced Hypersensitivity Syndrome
Red Man Syndrome
Radiocontrast Media
Narcotic Analgesics
Aspirin and Nonsteroidal Antiinflammatory Drugs
Bibliography
Part XVI: Rheumatic Diseases of Childhood
Chapter 153: Evaluation of Suspected Rheumatic Disease
Symptoms Suggestive of Rheumatic Disease
Signs Suggestive of Rheumatic Disease
Laboratory Testing
Imaging Studies
Bibliography
Chapter 154: Treatment of Rheumatic Diseases
Pediatric Rheumatology Teams and Primary Care Physicians
Therapeutics
Nonsteroidal Antiinflammatory Drugs
Nonbiologic Disease-Modifying Antirheumatic Drugs
Methotrexate
Hydroxychloroquine
Leflunomide
Sulfasalazine
Mycophenolate Mofetil
Glucocorticoids
Biologic Agents
Tumor Necrosis Factor-α Antagonists
Modulator of T-Cell Activation
B-Cell Depletion
Interleukin-1 Antagonists
Interleukin-6 Receptor Antagonist
Intravenous Immunoglobulin
Cytotoxics
Cyclophosphamide
Other Drugs
Bibliography
Chapter 155: Juvenile Idiopathic Arthritis
Epidemiology
Etiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Prognosis
Bibliography
Chapter 156: Ankylosing Spondylitis and Other Spondyloarthritides
Epidemiology
Etiology and Pathogenesis
Clinical Manifestations and Diagnosis
Enthesitis-Related Arthritis
Psoriatic Arthritis
Juvenile Ankylosing Spondylitis
Arthritis with Inflammatory Bowel Disease
Laboratory Findings
Imaging
Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 157: Reactive and Postinfectious Arthritis
Pathogenesis
Clinical Manifestations and Differential Diagnosis
Diagnosis
Treatment
Complications and Prognosis
Bibliography
Chapter 158: Systemic Lupus Erythematosus
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
158.1 Neonatal Lupus
Bibliography
Chapter 159: Juvenile Dermatomyositis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
Chapter 160: Scleroderma and Raynaud Phenomenon
Etiology and Pathogenesis
Classification
Epidemiology
Clinical Manifestations
Localized Scleroderma
Systemic Scleroderma
Raynaud Phenomenon
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Prognosis
Bibliography
Chapter 161: Behçet Disease
Epidemiology
Etiology and Pathogenesis
Clinical Manifestations and Diagnosis
Diagnosis
Treatment and Prognosis
Bibliography
Chapter 162: Sjögren Syndrome
Epidemiology
Etiology and Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Complications and Prognosis
Bibliography
Chapter 163: Hereditary Periodic Fever Syndromes and Other Systemic Autoinflammatory Diseases
Familial Mediterranean Fever
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Complications and Prognosis
Hyperimmunoglobulinemia D with Periodic Fever Syndrome
The Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Cryopyrin-Associated Periodic Fever Syndromes
Other Mendelian Autoinflammatory Diseases
The Syndrome of Pyogenic Arthritis with Pyoderma Gangrenosum and Acne
Deficiency of the Interleukin-1 Receptor Antagonist
Blau Syndrome
Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature
Autoinflammation with Phospholipase Cγ2-Associated Antibody Deficiency and Immune Dysregulation
Deficiency of Adenosine Deaminase 2
Genetically Complex Autoinflammatory Diseases
Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis
Chronic Recurrent Multifocal Osteomyelitis
Bibliography
Chapter 164: Amyloidosis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Complications and Prognosis
Prevention
Bibliography
Chapter 165: Sarcoidosis
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 166: Kawasaki Disease
Etiology
Epidemiology
Pathology
Clinical Manifestations
Laboratory and Radiology Findings
Diagnosis
Differential Diagnosis
Treatment
Complications
Prognosis
Bibliography
Chapter 167: Vasculitis Syndromes
167.1 Henoch-Schönlein Purpura
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
167.2 Takayasu Arteritis
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
167.3 Polyarteritis Nodosa and Cutaneous Polyarteritis Nodosa
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
167.4 Antineutrophilic Cytoplasmic Antibody–Associated Vasculitis
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Bibliography
167.5 Other Vasculitis Syndromes
Bibliography
Bibliography
Chapter 168: Musculoskeletal Pain Syndromes
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Complications and Prognosis
168.1 Growing Pains
168.2 Small Fiber Polyneuropathy
Bibliography
168.3 Fibromyalgia
Bibliography
168.4 Complex Regional Pain Syndrome
Bibliography
168.5 Erythromelalgia
Bibliography
Chapter 169: Miscellaneous Conditions Associated with Arthritis
Relapsing Polychondritis
Mucha-Habermann Disease/Pityriasis Lichenoides Et Varioliformis Acuta
Sweet Syndrome
Hypertrophic Osteoarthropathy
Plant Thorn Synovitis
Pigmented Villonodular Synovitis
Bibliography
Part XVII: Infectious Diseases
Section 1: General Considerations
Chapter 170: Diagnostic Microbiology
Specimen Collection
Laboratory Diagnosis of Bacterial and Fungal Infections
Microscopy
Isolation and Identification
Blood Culture
Cerebrospinal Fluid Culture
Urine Culture
Genital Culture
Throat and Respiratory Culture
Detection of Enteric Pathogens
Culture of Other Fluids and Tissues
Screening Cultures
Antimicrobial Susceptibility Testing
Fungal Cultures
Point-of-Care Diagnostics
Laboratory Detection of Parasitic Infections
Serologic Diagnosis
Laboratory Diagnosis of Viral Infections
Specimens
Antigen Detection Tests
Viral Culture
Molecular Diagnostics
Bibliography
Chapter 171: The Microbiome and Pediatric Health
Measuring the Microbiome
Early-Childhood Development of the Microbiome
The Microbiome and Physiologic Development
Microbiome and Metabolism
Microbiome, Inflammation, and Immunity
Microbiome-Neurobiologic Connections
Contributions of Microbiome to Disease
Microbiome of Premature Birth
Changes in the Microbiome with Necrotizing Enterocolitis
Microbiome and Allergic Disorders
Airway Microbiome of Cystic Fibrosis
Microbiome During Antibiotic-Associated Diarrhea and Clostridium difficile Colitis
Microbiome and Association with Inflammatory Bowel Disease
Microbiome of Obesity
Microbiome During Malnutrition
Therapeutic Manipulation of the Microbiome
Prebiotics
Probiotics
Bibliography
Section 2: Preventive Measures
Chapter 172: Immunization Practices
Passive Immunity
Intramuscular Immunoglobulin
Intravenous Immunoglobulin
Subcutaneous Immunoglobulin
Hyperimmune Animal Antisera Preparations
Monoclonal Antibodies
Active Immunization
Vaccination System in the United States
Vaccine Development
Vaccine Production
Vaccine Policy
Vaccine Financing
Vaccine Safety Monitoring
Vaccine Delivery
Recommended Immunization Schedule
Vaccines Recommended in Special Circumstances
Precautions and Contraindications
Improving Immunization Coverage
Bibliography
172.1 International Immunization Practices
Bibliography
Chapter 173: Infection Prevention and Control
Hand Hygiene
Standard Precautions
Isolation
Additional Measures
Surgical Prophylaxis
Employee Health
Bibliography
Chapter 174: Childcare and Communicable Diseases
Epidemiology
Respiratory Tract Infections
Gastrointestinal Tract Infections
Skin Diseases
Invasive Organisms
Herpesviruses
Blood-borne Pathogens
Antibiotic Use and Bacterial Resistance
Prevention
Standards
Bibliography
Chapter 175: Health Advice for Children Traveling Internationally
The Pediatric Travel Medicine Consultation
Pediatric Travelers Visiting Friends and Relatives
Safety and Preventive Counseling Topics
Health and Evacuation Insurance, Underlying Health Conditions, and Medications
Safety and Injury Prevention
Animal Contact
Routine Childhood Vaccinations Required for Pediatric Travel
Diphtheria-Tetanus-Pertussis
Haemophilus influenzae Type B
Hepatitis A
Hepatitis B
Influenza and Avian Influenza
Measles-Mumps-Rubella
Pneumococcal Vaccines
Polio Vaccine
Varicella
Specialized Pediatric Travel Vaccinations
Cholera
Hepatitis A Vaccination and Preexposure Immunoglobulin
Japanese Encephalitis
Meningococcal Vaccines
Rabies
Tuberculosis
Typhoid
Yellow Fever
Traveler’s Diarrhea
Guidance on Prevention of Traveler’s Diarrhea
Management of Traveler’s Diarrhea
Presumptive Antibiotic Treatment
Insect-Borne Infections
Malaria Chemoprophylaxis
The Returning Traveler
Bibliography
Chapter 176: Fever
Definition
Pathogenesis
Etiology
Clinical Features
Evaluation
Management
Bibliography
Chapter 177: Fever Without a Focus
Fever Without Localizing Signs
Neonates
1 to 3 Months of Age
3 to 36 Months of Age
Fever of Unknown Origin
Etiology
Diagnosis
History
Physical Examination
Laboratory Evaluation
Management
Prognosis
Bibliography
Chapter 178: Infections in Immunocompromised Persons
178.1 Infections Occurring with Primary Immunodeficiencies
Abnormalities of the Phagocytic System
Defective Splenic Function, Opsonization, or Complement Activity
B-Cell Defects (Humoral Immunodeficiencies)
T-Cell Defects (Cell-Mediated Immunodeficiencies)
Combined B-Cell and T-Cell Defects
Bibliography
178.2 Infections Occurring with Acquired Immunodeficiencies
Acquired Immunodeficiency From Infectious Agents
Malignancies
Fever and Neutropenia
Transplantation
Stem Cell Transplantation
Pretransplantation Period
Preengraftment Period
Postengraftment Period
Late Posttransplantation Period
Solid-Organ Transplantation
Timing
Bacterial and Fungal Infections
Viral Infections
Opportunistic Pathogens
Bibliography
178.3 Prevention of Infection in Immunocompromised Persons
Bibliography
Chapter 179: Infection Associated with Medical Devices
Intravascular Access Devices
Catheter Types
Catheter-Associated Skin and Soft Tissue Infection
Catheter-Related Bloodstream Infection
Prevention of Infection
Cerebrospinal Fluid Shunts
Prevention of Infection
Urethral Catheters
Prevention of Infection
Peritoneal Dialysis Catheters
Prevention of Infection
Orthopedic Prostheses
Bibliography
Section 3: Antibiotic Therapy
Chapter 180: Principles of Antibacterial Therapy
Age- and Risk-Specific Use of Antibiotics in Children
Neonates
Older Children
Immunocompromised and Hospitalized Patients
Infections Associated with Medical Devices
Antibiotics Commonly Used in Pediatric Practice
Penicillins
Cephalosporins
Carbapenems
Glycopeptides
Aminoglycosides
Tetracyclines
Sulfonamides
Macrolides
Lincosamides
Quinolones
Streptogramins and Oxazolidinones
Daptomycin
Miscellaneous Agents
Bibliography
Section 4: Gram-Positive Bacterial Infections
Chapter 181: Staphylococcus
181.1 Staphylococcus aureus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Newborn
Skin
Respiratory Tract
Sepsis
Muscle
Bones and Joints
Central Nervous System
Heart
Kidney
Toxic Shock Syndrome
Intestinal Tract
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
181.2 Toxic Shock Syndrome
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prevention
Bibliography
181.3 Coagulase-Negative Staphylococci
Epidemiology
Pathogenesis
Clinical Manifestations
Bacteremia
Endocarditis
Central Venous Catheter Infection
Cerebrospinal Fluid Shunts
Urinary Tract Infection
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 182: Streptococcus pneumoniae (Pneumococcus)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 183: Group A Streptococcus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Respiratory Tract Infections
Scarlet Fever
Impetigo
Erysipelas
Perianal Dermatitis
Vaginitis
Severe Invasive Disease
Diagnosis
Differential Diagnosis
Treatment
Complications
Poststreptococcal Reactive Arthritis
Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus pyogenes
Prognosis
Prevention
Bibliography
183.1 Rheumatic Fever
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations and Diagnosis
The 5 Major Criteria
Migratory Polyarthritis
Carditis
Chorea
Erythema Marginatum
Subcutaneous Nodules
Minor Criteria
Recent Group A Streptococcus Infection
Differential Diagnosis
Treatment
Antibiotic Therapy
Antiinflammatory Therapy
Sydenham Chorea
Complications
Prognosis
Prevention
Primary Prevention
Secondary Prevention
Bibliography
Chapter 184: Group B Streptococcus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Prognosis
Prevention
Chemoprophylaxis
Maternal Immunization
Bibliography
Chapter 185: Non–Group A or B Streptococci
Bibliography
Chapter 186: Enterococcus
Etiology
Epidemiology
Pathogenesis
Antimicrobial Resistance
Clinical Manifestations
Neonatal Infections
Infections in Older Children
Treatment
Treatment of Vancomycin-Resistant Enterococci
Prevention
Bibliography
Chapter 187: Diphtheria (Corynebacterium diphtheriae)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Respiratory Tract Diphtheria
Cutaneous Diphtheria
Infection at Other Sites
Diagnosis
Complications
Toxic Cardiomyopathy
Toxic Neuropathy
Treatment
Supportive Care
Prognosis
Prevention
Asymptomatic Case Contacts
Asymptomatic Carriers
Vaccine
Bibliography
Chapter 188: Listeria monocytogenes
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Listeriosis in Pregnancy
Neonatal Listeriosis
Postneonatal Infections
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 189: Actinomyces
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Cervicofacial Actinomycosis
Abdominal and Pelvic Actinomycosis
Pulmonary Actinomycosis
Other Forms
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 190: Nocardia
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Section 5: Gram-Negative Bacterial Infections
Chapter 191: Neisseria meningitidis (Meningococcus)
Etiology
Epidemiology
Pathogenesis and Pathophysiology
Immunity
Host Factors
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Antibiotics
Supportive Care
Complications
Prognosis
Prevention
Secondary Prevention
Vaccination
Bibliography
Chapter 192: Neisseria gonorrhoeae (Gonococcus)
Etiology
Epidemiology
Pathogenesis and Pathology
Clinical Manifestations
Asymptomatic Gonorrhea
Uncomplicated Gonorrhea
Disseminated Gonococcal Infection
Diagnosis
Treatment
Adolescent and Adult Infections
Infant and Pediatric Infections
Pelvic Inflammatory Disease
Complications
Prognosis
Prevention
Bibliography
Chapter 193: Kingella kingae
Etiology
Epidemiology
Pathogenesis
Clinical Disease
Septic Arthritis
Osteomyelitis
Spondylodiscitis
Occult Bacteremia
Endocarditis
Diagnosis
Treatment
Prevention
Bibliography
Chapter 194: Haemophilus influenzae
Etiology
Epidemiology
Pathogenesis
Antibiotic Resistance
Immunity
Diagnosis
Clinical Manifestations and Treatment
Meningitis
Cellulitis
Preseptal Cellulitis
Orbital Cellulitis
Supraglottitis or Acute Epiglottitis
Pneumonia
Suppurative Arthritis
Pericarditis
Bacteremia Without an Associated Focus
Miscellaneous Infections
Invasive Disease in Neonates
Otitis Media
Conjunctivitis
Sinusitis
Prevention
Vaccine
Prophylaxis
Bibliography
Chapter 195: Chancroid (Haemophilus ducreyi)
Etiology and Epidemiology
Clinical Manifestations.
Diagnosis
Treatment
Complications
Bibliography
Chapter 196: Moraxella catarrhalis
Etiology
Epidemiology
Pathogenesis of Infection
Clinical Manifestations
Acute Otitis Media
Recurrent Otitis Media and Otitis Media with Effusion
Sinusitis
Bacteremia
Diagnosis
Treatment
Prevention
Bibliography
Chapter 197: Pertussis (Bordetella pertussis and Bordetella parapertussis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Antibiotics
Adjunct Therapies
Isolation
Care of Household and Other Close Contacts
Complications
Prevention
DTaP Vaccines
Tdap Vaccines
Bibliography
Chapter 198: Salmonella
198.1 Nontyphoidal Salmonellosis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Acute Enteritis
Bacteremia
Extraintestinal Focal Infections
Complications
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
198.2 Enteric Fever (Typhoid Fever)
Etiology
Epidemiology
Pathogenesis
Clinical Features
Complications
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 199: Shigella
Etiology
Epidemiology
Pathogenesis
Immunity
Clinical Manifestations and Complications
Differential Diagnosis
Diagnosis
Treatment
Prevention
Bibliography
Chapter 200: Escherichia coli
Enterotoxigenic Escherichia Coli
Enteroinvasive Escherichia Coli
Enteropathogenic Escherichia Coli
Shiga Toxin–Producing Escherichia Coli
Enteroaggregative Escherichia Coli
Diffusely Adherent Escherichia Coli
Enteroaggregative Hemorrhagic Escherichia Coli
Diagnosis
Treatment
Prevention of Illness
Bibliography
Chapter 201: Cholera
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prevention
Bibliography
Chapter 202: Campylobacter
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Acute Gastroenteritis
Bacteremia
Focal Extraintestinal Infections
Perinatal Infections
Diagnosis
Complications
Reactive Arthritis
Guillain-Barré Syndrome
Other Complications
Treatment
Prognosis
Prevention
Bibliography
Chapter 203: Yersinia
203.1 Yersinia enterocolitica
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Complications
Prevention
Bibliography
203.2 Yersinia pseudotuberculosis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Complications
Prevention
Bibliography
203.3 Plague (Yersinia pestis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prevention
Bibliography
Chapter 204: Aeromonas and Plesiomonas
204.1 Aeromonas
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Enteritis
Skin and Soft-Tissue Infections
Septicemia
Other Infections
Diagnosis
Treatment
Prevention
Bibliography
204.2 Plesiomonas shigelloides
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 205: Pseudomonas, Burkholderia, and Stenotrophomonas
205.1 Pseudomonas aeruginosa
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Burns and Wound Infection
Cystic Fibrosis
Immunocompromised Persons
Nosocomial Pneumonia
Infants
Diagnosis
Treatment
Supportive Care
Prognosis
Prevention
Bibliography
205.2 Burkholderia cepacia Complex
Burkholderia Mallei (Glanders)
Burkholderia Pseudomallei (Melioidosis)
Bibliography
Burkholderia cepacia Complex
Burkholderia mallei
Burkholderia pseudomallei
205.3 Stenotrophomonas
Bibliography
Chapter 206: Tularemia (Francisella tularensis)
Etiology
Epidemiology
Transmission
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 207: Brucella
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 208: Legionella
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 209: Bartonella
209.1 Cat-Scratch Disease (Bartonella henselae)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Complications
Prognosis
Prevention
Bibliography
209.2 Bartonellosis (Bartonella bacilliformis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
209.3 Trench Fever (Bartonella quintana)
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
209.4 Bacillary Angiomatosis and Bacillary Peliosis Hepatis (Bartonella henselae and Bartonella quintana)
Bacillary Angiomatosis
Bacillary Peliosis
Bacteremia and Endocarditis
Diagnosis
Treatment
Prevention
Bibliography
Bibliography
Section 6: Anaerobic Bacterial Infections
Chapter 210: Botulism (Clostridium botulinum)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Supportive Care
Complications
Prognosis
Prevention
Bibliography
Chapter 211: Tetanus (Clostridium tetani)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Supportive Care
Complications
Prognosis
Prevention
Wound Management
Bibliography
Chapter 212: Clostridium difficile Infection
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 213: Other Anaerobic Infections
Clinical Manifestations
Bacteremia
Central Nervous System
Upper Respiratory Tract
Lower Respiratory Tract
Intraabdominal Infection
Genital Tract
Skin and Soft Tissue
Other Sites
Diagnosis
Treatment
Common Anaerobic Pathogens
Clostridium
Myonecrosis (Gas Gangrene)
Food Poisoning
Bacteroides and Prevotella
Fusobacterium
Veillonella
Anaerobic Cocci
Bibliography
Section 7: Mycobacterial Infections
Chapter 214: Principles of Antimycobacterial Therapy
Agents Used Against Mycobacterium Tuberculosis
Commonly Used Agents
Isoniazid
Rifamycins
Pyrazinamide
Ethambutol
Less Commonly Used Agents
Aminoglycosides
Cycloserine
Ethionamide
Fluoroquinolones
Linezolid
Paraaminosalicylic Acid
Bedaquiline Fumarate
Agents Used Against Mycobacterium Leprae
Dapsone
Clofazimine
Agents Used Against Nontuberculous Mycobacteria
Cefoxitin
Doxycycline
Macrolides
Trimethoprim-Sulfamethoxazole
Bibliography
Chapter 215: Tuberculosis (Mycobacterium tuberculosis)
Etiology
Terminology: Exposure, Infection, Disease
Epidemiology
Transmission
Pathogenesis
Immunity
Clinical Manifestations
Primary Pulmonary Disease
Progressive Primary Pulmonary Disease
Reactivation Tuberculosis
Pleural Effusion
Pericardial Disease
Lymphohematogenous (Disseminated) Disease
Upper Respiratory Tract Disease
Lymph Node Disease
Central Nervous System Disease
Cutaneous Disease
Bone and Joint Disease
Abdominal and Gastrointestinal Disease
Genitourinary Disease
Pregnancy and the Newborn
Perinatal Disease
Disease in HIV-Infected Children
Diagnostic Tools
Tuberculin Skin Testing
Interferon-γ Release Assays
Mycobacterial Sampling, Susceptibility and Culture
Nucleic Acid Amplification
Treatment
Drug-Resistant Tuberculosis
Corticosteroids
Supportive Care
Latent Mycobacterium tuberculosis Infection
Prevention
Bacille Calmette-Guérin Vaccination
Prevention of Perinatal Tuberculosis
Bibliography
Chapter 216: Hansen Disease (Mycobacterium leprae)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Skin Involvement
Nerve Involvement
Other Involvement
Diagnosis
Treatment
Long-Term Complications
Prevention
Bibliography
Chapter 217: Nontuberculous Mycobacteria
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Section 8: Spirochetal Infections
Chapter 218: Syphilis (Treponema pallidum)
Etiology
Epidemiology
Clinical Manifestations and Laboratory Findings
Congenital Infection
Diagnosis
Congenital Syphilis
Treatment
Acquired Syphilis
Syphilis in Pregnancy
Congenital Syphilis
Prevention
Congenital Syphilis
Bibliography
Chapter 219: Nonvenereal Treponemal Infections
219.1 Yaws (Treponema pertenue)
219.2 Bejel (Endemic Syphilis; Treponema pallidum endemicum)
219.3 Pinta (Treponema carateum)
Bibliography
Bibliography
Chapter 220: Leptospira
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Anicteric Leptospirosis
Icteric Leptospirosis (Weil Syndrome)
Diagnosis
Treatment
Prevention
Bibliography
Chapter 221: Relapsing Fever (Borrelia)
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 222: Lyme Disease (Borrelia burgdorferi)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations
Early Localized Disease
Early Disseminated Disease
Late Disease
Congenital Lyme Disease
Laboratory Findings
Diagnosis
Serology
Treatment
Prognosis
Prevention
Bibliography
Section 9: Mycoplasmal Infections
Chapter 223: Mycoplasma pneumoniae
The Organism
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Respiratory Tract Disease
Extrapulmonary Disease
Diagnosis
Treatment
Antimicrobial Therapy
Adjunctive Therapy
Prevention
Bibliography
Chapter 224: Genital Mycoplasmas (Mycoplasma Hominis, Mycoplasma Genitalium, and Ureaplasma Urealyticum)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations
Intrauterine and Neonatal Infections
Genitourinary Infections
Nongenital Infections
Diagnosis
Genital Tract Infection
Neonates
Treatment
Adolescents and Adults
Neonates
Bibliography
Section 10: Chlamydial Infections
Chapter 225: Chlamydia (Chlamydophila) pneumoniae
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 226: Chlamydia trachomatis
226.1 Trachoma
Bibliography
226.2 Genital Tract Infections
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Complications
Prevention
Bibliography
226.3 Conjunctivitis and Pneumonia in Newborns
Epidemiology
Inclusion Conjunctivitis
Pneumonia
Infections at Other Sites
Diagnosis
Treatment
Prevention
Bibliography
226.4 Lymphogranuloma Venereum
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 227: Psittacosis (Chlamydia psittaci)
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Section 11: Rickettsial Infections
Chapter 228: Spotted Fever Group Rickettsioses
228.1 Rocky Mountain Spotted Fever (Rickettsia rickettsii)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations
Other
Laboratory Findings
Diagnosis
Differential Diagnosis
Treatment
Supportive Care
Complications
Prognosis
Prevention
228.2 Mediterranean Spotted Fever or Boutonneuse Fever (Rickettsia conorii)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations and Laboratory Findings
Diagnosis
Differential Diagnosis
Treatment and Supportive Care
Complications
Prevention
228.3 Rickettsialpox (Rickettsia akari)
Bibliography
Chapter 229: Scrub Typhus (Orientia tsutsugamushi)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations and Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment and Supportive Care
Complications
Prevention
Bibliography
Chapter 230: Typhus Group Rickettsioses
230.1 Murine (Endemic or Flea-Borne) Typhus (Rickettsia typhi)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Supportive Care
Complications
Prevention
230.2 Epidemic (Louse-Borne) Typhus (Rickettsia prowazekii)
Etiology
Epidemiology
Transmission
Clinical Manifestations
Treatment
Prevention
Bibliography
Chapter 231: Ehrlichiosis and Anaplasmosis
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Differential Diagnosis
Treatment
Complications and Prognosis
Prevention
Bibliography
Chapter 232: Q Fever (Coxiella burnetii)
Etiology
Epidemiology
Transmission
Pathology and Pathogenesis
Clinical Manifestations and Complications
Acute Q Fever
Chronic Q Fever
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Prevention
Bibliography
Section 12: Fungal Infections
Chapter 233: Principles of Antifungal Therapy
Polyenes
Amphotericin B
Pyrimidine Analogs
5-Fluorocytosine
Azoles
Fluconazole
Itraconazole
Voriconazole
Posaconazole
Echinocandins
Caspofungin
Micafungin
Anidulafungin
Bibliography
Chapter 234: Candida
234.1 Neonatal Infections
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Prophylaxis
Treatment
Prognosis
Bibliography
234.2 Infections in Immunocompetent Children and Adolescents
Oral Candidiasis
Diaper Dermatitis
Ungual and Periungual Infections
Vulvovaginitis
Bibliography
234.3 Infections in Immunocompromised Children and Adolescents
Etiology
Clinical Manifestations
HIV-Infected Children
Cancer and Transplant Patients
Catheter-Associated Infections
Diagnosis
Treatment
Primary Immune Defects
Bibliography
Chapter 235: Cryptococcus neoformans
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Pneumonia
Disseminated Infection
Meningitis
Sepsis Syndrome
Cutaneous Infection
Skeletal Infection
Ocular Infection
Lymph Nodes
Diagnosis
Treatment
Prevention
Bibliography
Chapter 236: Malassezia
Bibliography
Chapter 237: Aspergillus
237.1 Allergic Disease (Hypersensitivity Syndromes)
Asthma
Extrinsic Alveolar Alveolitis
Allergic Bronchopulmonary Aspergillosis
Allergic Aspergillus Sinusitis
Bibliography
237.2 Saprophytic (Noninvasive) Syndromes
Pulmonary Aspergilloma
Chronic Pulmonary Aspergillosis
Sinusitis
Otomycosis
Bibliography
237.3 Invasive Disease
Invasive Pulmonary Aspergillosis
Diagnosis
Treatment
Special Populations
Cutaneous Aspergillosis
Invasive Sinonasal Disease
Central Nervous System
Eye
Bone
Heart
Empirical Antifungal Therapy
Bibliography
Chapter 238: Histoplasmosis (Histoplasma capsulatum)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 239: Blastomycosis (Blastomyces dermatitidis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 240: Coccidioidomycosis (Coccidioides Species)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Primary Coccidioidomycosis
Complicated Pulmonary Infection
Residual Pulmonary Coccidioidomycosis
Disseminated (Extrapulmonary) Infection
Diagnosis
Culture, Histopathologic Findings, and Antigen Detection
Serology
Imaging Procedures
Treatment
Primary Pulmonary Infection
Diffuse Pneumonia
Disseminated (Extrapulmonary) Infection
Meningitis
Surgical Management
Prevention
Bibliography
Chapter 241: Paracoccidioides brasiliensis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 242: Sporotrichosis (Sporothrix schenckii)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 243: Zygomycosis (Mucormycosis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 244: Pneumocystis jiroveci
Etiology
Epidemiology
Pathogenesis
Pathology
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Supportive Care
Complications
Prognosis
Prevention
Bibliography
Section 13: Viral Infections
Chapter 245: Principles of Antiviral Therapy
Antivirals Used for Herpesviruses
Acyclovir
Valacyclovir
Penciclovir and Famciclovir
Ganciclovir
Foscarnet
Cidofovir
Trifluridine
Vidarabine
Fomivirsen
New Agents
Antivirals Used for Respiratory Viral Infections
Ribavirin
Amantadine and Rimantadine
Oseltamivir, Zanamivir, and Peramivir
Antiviral Immune Globulins
Bibliography
Chapter 246: Measles
Etiology
Epidemiology
Transmission
Pathology
Pathogenesis
Clinical Manifestations
Inapparent Measles Infection
Laboratory Findings
Diagnosis
Differential Diagnosis
Complications
Subacute Sclerosing Panencephalitis
Treatment
Vitamin A
Prognosis
Prevention
Vaccine
Postexposure Prophylaxis
Bibliography
Chapter 247: Rubella
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnoses
Differential Diagnoses
Complications
Congenital Rubella Syndrome
Treatment
Supportive Care
Prognosis
Prevention
Vaccination
Bibliography
Chapter 248: Mumps
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Complications
Meningitis and Meningoencephalitis
Orchitis and Oophoritis
Pancreatitis
Cardiac Involvement
Arthritis
Thyroiditis
Treatment
Prognosis
Prevention
Bibliography
Chapter 249: Polioviruses
Etiology
Epidemiology
Transmission
Pathogenesis
Clinical Manifestations
Abortive Poliomyelitis
Nonparalytic Poliomyelitis
Paralytic Poliomyelitis
Diagnosis
Differential Diagnosis
Treatment
Abortive Poliomyelitis
Nonparalytic Poliomyelitis
Paralytic Poliomyelitis
Complications
Prognosis
Postpolio Syndrome
Prevention
Bibliography
Chapter 250: Nonpolio Enteroviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Nonspecific Febrile Illness
Hand-Foot-and-Mouth Disease
Herpangina
Respiratory Manifestations
Ocular Manifestations
Myocarditis and Pericarditis
Gastrointestinal and Genitourinary Manifestations
Neurologic Manifestations
Myositis and Arthritis
Neonatal Infections
Transplant Recipients and Patients with Malignancies
Diagnosis
Differential Diagnosis
Treatment
Complications and Prognosis
Prevention
Bibliography
Chapter 251: Parvoviruses
Etiology
Epidemiology
Parvovirus B19
Human Bocaviruses
Pathogenesis
Parvovirus B19
Human Bocaviruses
Clinical Manifestations
Parvovirus B19
Erythema Infectiosum (Fifth Disease)
Arthropathy
Transient Aplastic Crisis
Immunocompromised Persons
Fetal Infection
Myocarditis
Other Cutaneous Manifestations
Human Bocaviruses
Diagnosis
Parvovirus B19 Infection
Human Bocavirus Infections
Differential Diagnosis
Parvovirus B19
Human Bocavirus
Treatment
Parvovirus B19
Human Bocavirus
Complications
Parvovirus B19
Human Bocavirus
Prevention
Parvovirus B19
Human Bocavirus
Bibliography
Chapter 252: Herpes Simplex Virus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Acute Oropharyngeal Infections
Herpes Labialis
Cutaneous Infections
Genital Herpes
Ocular Infections
Central Nervous System Infections
Infections in Immunocompromised Persons
Perinatal Infections
Diagnosis
Laboratory Findings
Treatment
Acute Mucocutaneous Infections
Genital Herpes
Ocular Infections
Central Nervous System Infections
Infections in Immunocompromised Persons
Perinatal Infections
Prognosis
Prevention
Bibliography
Chapter 253: Varicella-Zoster Virus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Varicella in Unvaccinated Individuals
Varicelliform Rashes in Vaccinated Individuals
Neonatal Varicella
Congenital Varicella Syndrome
Complications
Bacterial Infections
Encephalitis and Cerebellar Ataxia
Pneumonia
Progressive Varicella
Herpes Zoster
Diagnosis
Treatment
Varicella
Herpes Zoster
Prognosis
Prevention
Vaccine
Vaccine-Associated Adverse Events
Postexposure Prophylaxis
Bibliography
Chapter 254: Epstein-Barr Virus
Etiology
Epidemiology
Pathogenesis
Oncogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Tests
Heterophile Antibody Test
Specific Epstein-Barr Virus Antibodies
Treatment
Complications
Prognosis
Prevention
Bibliography
Chapter 255: Cytomegalovirus
The Virus and Its Interaction with the Host
Epidemiology
Mechanisms of Disease Associated with Cytomegalovirus Infections
Clinical Manifestations
Immunocompromised Host
Congenital Infection
Perinatal Infection
Diagnosis
Congenital Infections
Noncongenital Infections
Treatment
Prevention
Passive Immunoprophylaxis
Active Immunoprophylaxis
Counseling
Bibliography
Chapter 256: Roseola (Human Herpesviruses 6 and 7)
Etiology
Epidemiology
Pathology/Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Differential Diagnosis
Complications
Treatment
Prognosis
Prevention
Bibliography
Chapter 257: Human Herpesvirus 8
Etiology
Epidemiology
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 258: Influenza Viruses
Etiology
Epidemiology
Antigenic Variation
Seasonal Influenza
Pathogenesis
Clinical Manifestations
Complications
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Supportive Care
Prognosis
Prevention
Vaccines
Chemoprophylaxis
Bibliography
Chapter 259: Parainfluenza Viruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Complications
Prognosis
Prevention
Bibliography
Chapter 260: Respiratory Syncytial Virus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Passive Immunoprophylaxis
Vaccine
Bibliography
Chapter 261: Human Metapneumovirus
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Supportive Care
Prognosis
Prevention
Bibliography
Chapter 262: Adenoviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Acute Respiratory Disease
Ocular Infections
Gastrointestinal Infections
Hemorrhagic Cystitis
Other Complications
Adenoviruses in Immunocompromised Patients
Diagnosis
Complications
Treatment
Prevention
Bibliography
Chapter 263: Rhinoviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Treatment
Prevention
Bibliography
Chapter 264: Coronaviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Respiratory Infections
Nonrespiratory Sequelae
Severe Acute Respiratory Syndrome–Associated Coronavirus
Middle East Respiratory Syndrome Coronavirus
Diagnosis
Treatment and Prevention
Bibliography
Chapter 265: Rotaviruses, Caliciviruses, and Astroviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Differential Diagnosis
Treatment
Supportive Treatment
Prognosis
Prevention
Vaccines
Bibliography
Chapter 266: Human Papillomaviruses
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Skin Lesions
Genital Warts
Squamous Intraepithelial Lesions and Cancers
Laryngeal Papillomatosis
Diagnosis
Differential Diagnosis
Treatment
Complications
Prognosis
Prevention
Bibliography
Chapter 267: Arboviral Infections in North America
Etiology
Epidemiology
Eastern Equine Encephalitis
Western Equine Encephalitis
St. Louis Encephalitis
West Nile Encephalitis
Powassan Encephalitis
La Crosse/California Encephalitis
Colorado Tick Fever
Chikungunya Virus
Clinical Manifestations
Eastern Equine Encephalitis
Western Equine Encephalitis
St. Louis Encephalitis
West Nile Encephalitis
Powassan Encephalitis
Lacrosse/California Encephalitis
Colorado Tick Fever
Chikungunya Virus
Diagnosis
Treatment
Prognosis
Eastern Equine Encephalitis
Western Equine Encephalitis
St. Louis Encephalitis
West Nile Encephalitis
Powassan Encephalitis
La Crosse or California Encephalitis
Colorado Tick Fever
Chikungunya
Prevention
Bibliography
Chapter 268: Arboviral Infections Outside North America
268.1 Venezuelan Equine Encephalitis
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
268.2 Japanese Encephalitis
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
268.3 Tickborne Encephalitis
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
268.4 West Nile Encephalitis
Chapter 269: Dengue Fever and Dengue Hemorrhagic Fever
Etiology
Epidemiology
Dengue-Like Diseases
Dengue Hemorrhagic Fever
Pathogenesis
Clinical Manifestations
Dengue Fever
Dengue Hemorrhagic Fever
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Dengue Hemorrhagic Fever and Dengue Shock Syndrome
Complications
Prognosis
Dengue Fever
Dengue Hemorrhagic Fever
Prevention
Bibliography
Chapter 270: Yellow Fever
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Complications
Prevention
Bibliography
Chapter 271: Ebola and Other Viral Hemorrhagic Fevers
Etiology
Epidemiology and Clinical Manifestations
Crimean-Congo Hemorrhagic Fever
Kyasanur Forest Disease
Omsk Hemorrhagic Fever
Rift Valley Fever
Argentine Hemorrhagic Fever
Bolivian Hemorrhagic Fever
Venezuelan Hemorrhagic Fever
Lassa Fever
Marburg Disease
Ebola Hemorrhagic Fever
Hemorrhagic Fever with Renal Syndrome
Clinical Manifestations
Crimean-Congo Hemorrhagic Fever
Kyasanur Forest Disease and Omsk Hemorrhagic Fever
Rift Valley Fever
Argentine, Venezuelan, and Bolivian Hemorrhagic Fevers and Lassa Fever
Marburg Disease and Ebola Hemorrhagic Fever
Hemorrhagic Fever with Renal Syndrome
Diagnosis
Differential Diagnosis
Treatment
Prevention
Bibliography
Chapter 272: Lymphocytic Choriomeningitis Virus
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Acquired (Postnatal) Lymphocytic Choriomeningitis Virus Infection
Congenital Lymphocytic Choriomeningitis Virus Infection
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Supportive Care
Prognosis
Prevention
Bibliography
Chapter 273: Hantavirus Pulmonary Syndrome
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 274: Rabies
Epidemiology
Transmission
Pathogenesis
Clinical Manifestations
Differential Diagnosis
Diagnosis
Treatment and Prognosis
Prevention
Immunization and Fertility Control of Animal Reservoirs
Postexposure Prophylaxis
Preexposure Prophylaxis
Bibliography
Chapter 275: Polyomaviruses
Bibliography
Chapter 276: Acquired Immunodeficiency Syndrome (Human Immunodeficiency Virus)
Etiology
Epidemiology
Transmission
Pathogenesis
Clinical Manifestations
Infections
Central Nervous System
Respiratory Tract
Cardiovascular System
Gastrointestinal and Hepatobiliary Tract
Renal Disease
Skin Manifestations
Hematologic and Malignant Diseases
Diagnosis
Treatment
Combination Therapy
Adherence
Initiation of Therapy
Dosing
Changing Antiretroviral Therapy
Monitoring Antiretroviral Therapy
Resistance to Antiretroviral Therapy
Supportive Care
Prognosis
Prevention
Bibliography
Chapter 277: Human T-Lymphotropic Viruses (1 and 2)
Etiology
Epidemiology
Diagnosis
Clinical Manifestations
Adult T-Cell Leukemia/Lymphoma
Human T-Cell Lymphotropic Virus-1–Associated Myelopathy
Human T-Cell Lymphotropic Virus-2
Prevention
Bibliography
Chapter 278: Transmissible Spongiform Encephalopathies
Etiology
Epidemiology
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Genetic Counseling
Prognosis
Family Support
Prevention
Bibliography
Section 14: Antiparasitic Therapy
Chapter 279: Principles of Antiparasitic Therapy
Selected Antiparasitic Drugs for Protozoans
Nitazoxanide (Alinia)
Tinidazole (Tindamax)
Atovaquone/Proguanil (Malarone)
Artemisinin Derivatives and Artemether/Lumefantrine (Coartem, Artemether, Artesunate)
Selected Antiparasitic Drugs for Helminths
Albendazole (Albenza)
Ivermectin (Stromectol, Mectizan)
Praziquantel (Biltricide)
Section 15: Protozoan Diseases
Chapter 280: Primary Amebic Meningoencephalitis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 281: Amebiasis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Amebic Colitis
Amebic Liver Abscess
Men Who Have Sex with Men and HIV Coinfection
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prognosis
Prevention
Bibliography
Chapter 282: Giardiasis and Balantidiasis
282.1 Giardia lamblia
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
282.2 Balantidiasis
Bibliography
Chapter 283: Cryptosporidium, Isospora, Cyclospora, and Microsporidia
Cryptosporidium
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Isospora
Cyclospora
Microsporidia
Bibliography
Chapter 284: Trichomoniasis (Trichomonas vaginalis)
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Treatment
Prevention
Bibliography
Chapter 285: Leishmaniasis (Leishmania)
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Localized Cutaneous Leishmaniasis
Diffuse Cutaneous Leishmaniasis
Mucosal Leishmaniasis
Visceral Leishmaniasis
Laboratory Findings
Differential Diagnosis
Diagnosis
Treatment
Prevention
Bibliography
Chapter 286: African Trypanosomiasis (Sleeping Sickness; Trypanosoma brucei Complex)
Etiology
Life Cycle
Epidemiology
Pathogenesis
Clinical Manifestations
Trypanosomal Chancre
Hemolymphatic Stage (Stage 1)
Meningoencephalitic Stage (Stage 2)
Diagnosis
Treatment
Stage 1 Treatment
Stage 2 Treatment
Prevention
Bibliography
Chapter 287: American Trypanosomiasis (Chagas Disease; Trypanosoma cruzi)
Etiology
Life Cycle
Epidemiology
Pathogenesis
Acute Disease
Chronic Disease
Clinical Manifestations
Immunocompromised Persons
Diagnosis
Treatment
Prevention
Bibliography
Chapter 288: Malaria (Plasmodium)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Plasmodium Falciparum Malaria
Plasmodium Vivax, P. Ovale, P. Malariae, or P. Knowlesi Malaria
Complications of Plasmodium Falciparum Malaria
Prevention
Bibliography
Chapter 289: Babesiosis (Babesia)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Chapter 290: Toxoplasmosis (Toxoplasma gondii)
Etiology
Epidemiology
Congenital Toxoplasmosis
Pathogenesis
Congenital Toxoplasmosis
Clinical Manifestations
Acquired Toxoplasmosis
Ocular Toxoplasmosis
Immunocompromised Persons
Congenital Toxoplasmosis
Systemic Signs
Skin
Endocrine Abnormalities
Central Nervous System
Eyes
Ears
Diagnosis
Isolation
Serologic Testing
Acquired Toxoplasmosis
Ocular Toxoplasmosis
Immunocompromised Persons
Congenital Toxoplasmosis
Treatment
Acquired Toxoplasmosis
Ocular Toxoplasmosis
Immunocompromised Persons
Congenital Toxoplasmosis
Pregnant Women with Toxoplasma gondii Infection
Prognosis
Prevention
Bibliography
Section 16: Helminthic Diseases
Chapter 291: Ascariasis (Ascaris lumbricoides)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 292: Hookworms (Necator americanus and Ancylostoma Spp.)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
292.1 Cutaneous Larva Migrans
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 293: Trichuriasis (Trichuris trichiura)
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 294: Enterobiasis (Enterobius vermicularis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 295: Strongyloidiasis (Strongyloides stercoralis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 296: Lymphatic Filariasis (Brugia malayi, Brugia timori, and Wuchereria bancrofti)
Etiology
Epidemiology
Clinical Manifestations
Tropical Pulmonary Eosinophilia
Diagnosis
Treatment
Bibliography
Chapter 297: Other Tissue Nematodes
Onchocerciasis (Onchocerca Volvulus)
Loiasis (Loa Loa)
Infection with Animal Filariae
Angiostrongylus Cantonensis
Angiostrongylus Costaricensis
Dracunculiasis (Dracunculus Medinensis)
Gnathostoma Spinigerum
Bibliography
Onchocerciasis (Onchocerca Volvulus)
Loiasis (Loa Loa)
Infection with Animal Filariae
Angiostrongylus Cantonensis
Angiostrongylus Costaricensis
Dracunculiasis (Dracunculus Medinensis)
Gnathostoma Spinigerum
Chapter 298: Toxocariasis (Visceral and Ocular Larva Migrans)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 299: Trichinellosis (Trichinella spiralis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 300: Schistosomiasis (Schistosoma)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prevention
Bibliography
Chapter 301: Flukes (Liver, Lung, and Intestinal)
Liver Flukes
Fascioliasis (Fasciola Hepatica)
Clonorchiasis (Clonorchis Sinensis)
Opisthorchiasis (Opisthorchis Spp.)
Lung Flukes
Paragonimiasis (Paragonimus Spp.)
Intestinal Flukes
Bibliography
Chapter 302: Adult Tapeworm Infections
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prevention
Diphyllobothriasis (Diphyllobothrium Species)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prevention
Hymenolepiasis (Hymenolepis)
Dipylidiasis (Dipylidium Caninum)
Bibliography
Chapter 303: Cysticercosis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prevention
Bibliography
Chapter 304: Echinococcosis (Echinococcus granulosus and Echinococcus multilocularis)
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Prevention
Bibliography
Part XVIII: The Digestive System
Section 1: Clinical Manifestations of Gastrointestinal Disease
Chapter 305: Normal Digestive Tract Phenomena
Chapter 306: Major Symptoms and Signs of Digestive Tract Disorders
Dysphagia
Regurgitation
Anorexia
Vomiting
Diarrhea
Constipation
Abdominal Pain
Gastrointestinal Hemorrhage
Abdominal Distention and Abdominal Masses
Jaundice
Bibliography
Section 2: The Oral Cavity
Chapter 307: Development and Developmental Anomalies of the Teeth
Initiation
Histodifferentiation–Morphodifferentiation
Calcification
Eruption
Anomalies Associated with Tooth Development
Bibliography
Chapter 308: Disorders of the Oral Cavity Associated with Other Conditions
Chapter 309: Malocclusion
Variations in Growth Patterns
Crossbite
Open and Closed Bites
Dental Crowding
Digit Sucking
Chapter 310: Cleft Lip and Palate
Incidence and Epidemiology
Clinical Manifestations
Treatment
Postoperative Management
Sequelae
Velopharyngeal Dysfunction
Clinical Manifestations
Bibliography
Chapter 311: Syndromes with Oral Manifestations
Bibliography
Chapter 312: Dental Caries
Etiology
Epidemiology
Clinical Manifestations
Complications
Treatment
Prevention
Fluoride
Oral Hygiene
Diet
Dental Sealant
Bibliography
Chapter 313: Periodontal Diseases
Gingivitis
Aggressive Periodontitis in Children (Prepubertal Periodontitis)
Aggressive Periodontitis in Adolescents (Localized Juvenile Periodontitis)
Teething
Cyclosporine- or Phenytoin-Induced Gingival Overgrowth
Acute Pericoronitis
Necrotizing Periodontal Disease (Acute Necrotizing Ulcerative Gingivitis)
Bibliography
Chapter 314: Dental Trauma
Injuries to Teeth
Injuries to Periodontal Structures
Concussion
Subluxation
Intrusion
Extrusion
Avulsion
Prevention
Additional Considerations
Bibliography
Chapter 315: Common Lesions of the Oral Soft Tissues
Oropharyngeal Candidiasis
Aphthous Ulcers
Herpetic Gingivostomatitis
Recurrent Herpes Labialis
Bohn Nodules
Dental Lamina Cysts
Fordyce Granules
Parulis
Cheilitis
Ankyloglossia
Geographic Tongue
Fissured Tongue
Chapter 316: Diseases of the Salivary Glands and Jaws
Parotitis
Ranula
Mucocele
Congenital Lip Pits
Eruption Cyst
Xerostomia
Salivary Gland Tumors
Histiocytic Disorders
Tumors of the Jaw
Bibliography
Chapter 317: Diagnostic Radiology in Dental Assessment
Section 3: The Esophagus
Chapter 318: Embryology, Anatomy, and Function of the Esophagus
Embryology
Anatomy
Function
Bibliography
318.1 Common Clinical Manifestations and Diagnostic Aids
Common Clinical Manifestations
Diagnostic Aids
Chapter 319: Congenital Anomalies
319.1 Esophageal Atresia and Tracheoesophageal Fistula
Presentation
Diagnosis
Management
Outcome
Bibliography
319.2 Laryngotracheoesophageal Clefts
Bibliography
Chapter 320: Obstructing and Motility Disorders of the Esophagus
Extrinsic
Intrinsic
Bibliography
Chapter 321: Dysmotility
Upper Esophageal and Upper Esophageal Sphincter Dysmotility (Striated Muscle)
Lower Esophageal and Lower Esophageal Sphincter Dysfunction (Smooth Muscle)
Bibliography
Chapter 322: Hiatal Hernia
Chapter 323: Gastroesophageal Reflux Disease
Pathophysiology
Epidemiology and Natural History
Clinical Manifestations
Diagnosis
Management
Bibliography
323.1 Complications of Gastroesophageal Reflux Disease
Esophageal: Esophagitis And Sequelae—Stricture, Barrett Esophagus, Adenocarcinoma
Nutritional
Extraesophageal: Respiratory (“Atypical”) Presentations
Apnea and Stridor
Bibliography
Chapter 324: Eosinophilic Esophagitis and Non–Gastroesophageal Reflux Disease Esophagitis
Eosinophilic Esophagitis
Infective Esophagitis
“Pill” Esophagitis
Bibliography
Chapter 325: Esophageal Perforation
Bibliography
Chapter 326: Esophageal Varices
Bibliography
Chapter 327: Ingestions
327.1 Foreign Bodies in the Esophagus
Bibliography
327.2 Caustic Ingestions
Bibliography
Section 4: Stomach and Intestines
Chapter 328: Normal Development, Structure, and Function
Development
Digestion and Absorption
Chapter 329: Pyloric Stenosis and Other Congenital Anomalies of the Stomach
329.1 Hypertrophic Pyloric Stenosis
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Bibliography
329.2 Congenital Gastric Outlet Obstruction
Clinical Manifestations
Diagnosis
Treatment
329.3 Gastric Duplication
Bibliography
329.4 Gastric Volvulus
Bibliography
329.5 Hypertrophic Gastropathy
Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Bibliography
Chapter 330: Intestinal Atresia, Stenosis, and Malrotation
330.1 Duodenal Obstruction
Clinical Manifestations and Diagnosis
Treatment
Bibliography
330.2 Jejunal and Ileal Atresia and Obstruction
Clinical Manifestation and Diagnosis
Treatment
Bibliography
330.3 Malrotation
Clinical Manifestations
Treatment
Bibliography
Bibliography
Chapter 331: Intestinal Duplications, Meckel Diverticulum, and Other Remnants of the Omphalomesenteric Duct
331.1 Intestinal Duplication
Clinical Manifestations
331.2 Meckel Diverticulum and Other Remnants of the Omphalomesenteric Duct
Clinical Manifestations
Diagnosis
Bibliography
Chapter 332: Motility Disorders and Hirschsprung Disease
332.1 Chronic Intestinal Pseudoobstruction
Clinical Manifestations
Diagnosis
Treatment
Bibliography
332.2 Mitochondrial Neurogastrointestinal Encephalomyopathy
Bibliography
332.3 Encopresis and Functional Constipation
Clinical Manifestations
Diagnosis
Treatment
Bibliography
332.4 Congenital Aganglionic Megacolon (Hirschsprung Disease)
Pathology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
332.5 Intestinal Neuronal Dysplasia
Bibliography
332.6 Superior Mesenteric Artery Syndrome (Wilkie Syndrome, Cast Syndrome, Arteriomesenteric Duodenal Compression Syndrome)
Bibliography
Chapter 333: Ileus, Adhesions, Intussusception, and Closed-Loop Obstructions
333.1 Ileus
Bibliography
333.2 Adhesions
Bibliography
333.3 Intussusception
Etiology and Epidemiology
Pathology
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Bibliography
333.4 Closed-Loop Obstructions
Bibliography
Chapter 334: Foreign Bodies and Bezoars
334.1 Foreign Bodies in the Stomach and Intestine
Bibliography
334.2 Bezoars
Bibliography
Chapter 335: Peptic Ulcer Disease in Children
335 Peptic Ulcer Disease in Children
Pathogenesis
Acid Secretion
Mucosal Defense
Clinical Manifestations
Diagnosis
Primary Ulcers
Helicobacter pylori Gastritis
Idiopathic Ulcers
Secondary Ulcers
Aspirin and Other Nonsteroidal Antiinflammatory Drugs
“Stress” Ulceration
Treatment
Treatment of Helicobacter pylori–Related Peptic Ulcer Disease
Surgical Therapy
Bibliography
335.1 Zollinger-Ellison Syndrome
Bibliography
Chapter 336: Inflammatory Bowel Disease
336.1 Chronic Ulcerative Colitis
Clinical Manifestations
Differential Diagnosis
Diagnosis
Treatment
Medical
Surgical
Support
Prognosis
Bibliography
336.2 Crohn Disease (Regional Enteritis, Regional Ileitis, Granulomatous Colitis)
Clinical Manifestations
Differential Diagnosis
Diagnosis
Treatment
Medical
5-Aminosalicylates
Antibiotics/Probiotics
Corticosteroids
Immunomodulators
Biologic Therapy
Enteral Nutritional Therapy
Surgery
Support
Prognosis
Bibliography
Chapter 337: Eosinophilic Gastroenteritis
Bibliography
Chapter 338: Disorders of Malabsorption
Clinical Approach
338.1 Evaluation of Children with Suspected Intestinal Malabsorption
Investigations for Carbohydrate Malabsorption
Investigations for Fat Malabsorption
Investigations for Protein-Losing Enteropathy
Investigations for Exocrine Pancreatic Function (Fig. 338-2)
Investigations for Intestinal Mucosal Disorders
Imaging Procedures
338.2 Celiac Disease (Gluten-Sensitive Enteropathy)
Etiology and Epidemiology
Genetics and Pathogenesis
Clinical Presentation and Associated Disorders
Diagnosis
Treatment
Nonceliac Gluten Sensitivity
Bibliography
338.3 Other Malabsorptive Syndromes
Congenital Intestinal Mucosal Defects
Microvillus Inclusion Disease (Congenital Microvillus Atrophy)
Tufting Enteropathy (Congenital Tufting Enteropathy)
Enteric Anendocrinosis
Proprotein Convertase 1/3 Deficiency
Carbohydrate-Deficient Glycoprotein Syndrome and Enterocyte Heparan Sulfate Deficiency
Syndromic Diarrhea
Autoimmune Enteropathy
Bile Acid Malabsorption
Intestinal Lymphangiectasia
Abetalipoproteinemia
Homozygous Hypobetalipoproteinemia
Chylomicron Retention Disease (Anderson Disease)
Wolman Disease
DGAT1 Mutation
Bibliography
338.4 Intestinal Infections and Infestations Associated with Malabsorption
Postinfectious Diarrhea
Bacterial Overgrowth
Tropical Sprue
Whipple Disease
Bibliography
338.5 Immunodeficiency Disorders
Bibliography
338.6 Immunoproliferative Small Intestinal Disease
Bibliography
338.7 Short Bowel Syndrome
Treatment
Complications
Bibliography
338.8 Chronic Malnutrition
Bibliography
338.9 Enzyme Deficiencies
Carbohydrate Malabsorption
Lactase Deficiency
Fructose Malabsorption
Sucrase–Isomaltase Deficiency
Glucose–Galactose Malabsorption
Exocrine Pancreatic Insufficiency
Enterokinase (Enteropeptidase) Deficiency
Trypsinogen Deficiency
338.10 Liver and Biliary Disorders Causing Malabsorption
338.11 Rare Inborn Defects Causing Malabsorption
Disorders of Carbohydrate Absorption
Disorders of Amino Acid and Peptide Absorption
Disorders of Fat Transport
Disorders of Vitamin Absorption
Disorders of Electrolyte and Mineral Absorption
Bibliography
338.12 Malabsorption in Eosinophilic Gastroenteritis
Bibliography
338.13 Malabsorption in Inflammatory Bowel Disease
Bibliography
Chapter 339: Intestinal Transplantation in Children with Intestinal Failure
Indications for Intestinal Transplant
Paucity of Venous Access
Life-Threatening Infections
Liver Disease
Transplantation Operation
Donor Selection
Types of Intestinal Grafts
The Recipient Operation
Postoperative Management
Immunosuppression
Allograft Assessment
Rejection and Graft-Versus-Host Disease
Infections
Outcomes
Bibliography
Chapter 340: Acute Gastroenteritis in Children
Epidemiology of Childhood Diarrhea
Etiology of Diarrhea
Pathogenesis of Infectious Diarrhea
Risk Factors for Gastroenteritis
Clinical Manifestation of Diarrhea
Complications
Diagnosis
Clinical Evaluation of Diarrhea
Stool Examination
Treatment
Oral Rehydration Therapy
Enteral Feeding and Diet Selection
Zinc Supplementation
Additional Therapies
Antibiotic Therapy
Prevention
Promotion of Exclusive Breastfeeding
Improved Complementary Feeding Practices
Rotavirus Immunization
Improved Water and Sanitary Facilities and Promotion of Personal and Domestic Hygiene
Improved Case Management of Diarrhea
Bibliography
340.1 Traveler’s Diarrhea
Treatment
Prevention
Bibliography
Chapter 341: Chronic Diarrhea
Definition and Epidemiology
Pathophysiology
Etiology
Genetic and Molecular Basis of the Protracted Diarrhea Syndrome
Evaluation of Patients
Investigations
Treatment
Bibliography
341.1 Diarrhea from Neuroendocrine Tumors
Chapter 342: Functional Abdominal Pain (Nonorganic Chronic Abdominal Pain)
Pathophysiology
Evaluation and Diagnosis
Treatment
Irritable Bowel Syndrome
Bibliography
Chapter 343: Acute Appendicitis
Pathology
Clinical Features
Physical Examination
Diagnostic Studies
Laboratory Findings
Radiologic Studies
Plain Radiographs
Ultrasound
CT Scan
MRI/White Blood Cell Scan
Differential Diagnosis
Diagnostic Approach
Treatment
Antibiotics
Interval Appendectomy
Surgical Technique
Complications
Incidental Appendicoliths
Bibliography
Chapter 344: Surgical Conditions of the Anus and Rectum
344.1 Anorectal Malformations
Embryology
Associated Anomalies
Manifestations and Diagnosis
Low Lesions
High Lesions
Persistent Cloaca
Rectal Atresia
Approach to the Patient
Operative Repair
Outcome
344.2 Anal Fissure
Clinical Manifestations
Treatment
344.3 Perianal Abscess and Fistula
Clinical Manifestations
Treatment
344.4 Hemorrhoids
Clinical Manifestations
Treatment
344.5 Rectal Mucosal Prolapse
Clinical Manifestations
Treatment
344.6 Pilonidal Sinus and Abscess
Bibliography
Chapter 345: Tumors of the Digestive Tract
Hamartomatous Tumors
Juvenile Polyposis Syndrome
Peutz-Jeghers Syndrome
PTEN Hamartoma Tumor Syndromes
Adenomatous Tumors
Adenomatous Polyposis Coli-Associated Polyposis Syndromes
Carcinoma
Other Gastrointestinal Tumors
Lymphoma
Nodular Lymphoid Hyperplasia
Carcinoid Tumor
Leiomyoma
Gastrointestinal Stromal Cell Tumors
Vascular Tumors
Bibliography
Chapter 346: Inguinal Hernias
Embryology and Pathogenesis
Genetics
Pathology
Incidence
Clinical Presentation
Evaluation of Acute Inguinal–Scrotal Swelling
Incarcerated Hernia
Ambiguous Genitalia
Management
Operative Management
Laparoscopic Inguinal Hernia Repair
Contralateral Inguinal Exploration
Direct Inguinal Hernia
Femoral Hernia
Complications
Wound Infection
Recurrent Hernia
Iatrogenic Cryptorchidism
Incarceration
Injury to the Vas Deferens and Male Fertility
Bibliography
Section 5: Exocrine Pancreas
Chapter 347: Embryology, Anatomy, and Physiology
347.1 Anatomic Abnormalities
Bibliography
347.2 Physiology
Bibliography
Bibliography
Chapter 348: Pancreatic Function Tests
Indirect Testing
Direct Testing
Bibliography
Chapter 349: Disorders of the Exocrine Pancreas
Disorders Associated with Pancreatic Insufficiency
Cystic Fibrosis
Shwachman-Diamond Syndrome
Pearson Syndrome
Johanson-Blizzard Syndrome
Isolated Enzyme Deficiencies
Other Syndromes Associated with Pancreatic Insufficiency
Bibliography
Chapter 350: Treatment of Pancreatic Insufficiency
Bibliography
Chapter 351: Pancreatitis
351.1 Acute Pancreatitis
Clinical Manifestations
Mild Acute Pancreatitis
Severe Acute Pancreatitis
Diagnosis
Treatment
Prognosis
Bibliography
351.2 Chronic Pancreatitis
Bibliography
Chapter 352: Pseudocyst of the Pancreas
Bibliography
Chapter 353: Pancreatic Tumors
Bibliography
Section 6: The Liver and Biliary System
Chapter 354: Morphogenesis of the Liver and Biliary System
Hepatic Ultrastructure
Metabolic Functions of the Liver
Carbohydrate Metabolism
Protein Metabolism
Lipid Metabolism
Biotransformation
Hepatic Excretory Function
Bibliography
Chapter 355: Manifestations of Liver Disease
Pathologic Manifestations
Clinical Manifestations
Hepatomegaly
Jaundice (Icterus)
Pruritus
Spider Angiomas
Palmar Erythema
Xanthomas
Portal Hypertension
Ascites
Gastrointestinal Bleeding
Encephalopathy
Endocrine Abnormalities
Renal Dysfunction
Pulmonary Involvement
Recurrent Cholangitis
Miscellaneous Manifestations of Liver Dysfunction
Bibliography
355.1 Evaluation of Patients with Possible Liver Dysfunction
Biochemical Tests
Liver Biopsy
Hepatic Imaging Procedures
Diagnostic Approach to Infants with Jaundice
Bibliography
Chapter 356: Cholestasis
356.1 Neonatal Cholestasis
Mechanisms
Evaluation
Intrahepatic Cholestasis
Neonatal Hepatitis
Disorders of Transport, Secretion, Conjugation, and Biosynthesis of Bile Acids
Bile Acid–Coenzyme a Ligase Deficiency
Disorders of Embryogenesis
Biliary Atresia
Differentiation of Idiopathic Neonatal Hepatitis from Biliary Atresia
Management of Patients with Suspected Biliary Atresia
Management of Chronic Cholestasis
Prognosis
Bibliography
356.2 Cholestasis in the Older Child
Chapter 357: Metabolic Diseases of the Liver
357.1 Inherited Deficient Conjugation of Bilirubin (Familial Nonhemolytic Unconjugated Hyperbilirubinemia)
Crigler-Najjar Syndrome Type I (Glucuronyl Transferase Deficiency)
Clinical Manifestations
Diagnosis
Treatment
Crigler-Najjar Syndrome Type II (Partial Glucuronyl Transferase Deficiency)
Clinical Manifestations
Diagnosis
Treatment
Inherited Conjugated Hyperbilirubinemia
Dubin-Johnson Syndrome
Rotor Syndrome
Bibliography
357.2 Wilson Disease
Pathogenesis
Clinical Manifestations
Pathology
Diagnosis
Treatment
Prognosis
Bibliography
357.3 Indian Childhood Cirrhosis
Bibliography
357.4 Neonatal Iron Storage Disease
Bibliography
357.5 Miscellaneous Metabolic Diseases of the Liver
α1-Antitrypsin Deficiency
Citrin Deficiency
Bibliography
Chapter 358: Viral Hepatitis
Issues Common to All Forms of Viral Hepatitis
Differential Diagnosis
Pathogenesis
Common Biochemical Profiles in the Acute Infectious Phase
Hepatitis A
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Complications
Treatment
Prevention
Immunoglobulin
Vaccine
Prognosis
Hepatitis B
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Treatment
Treatment Strategies
Prevention
Hepatitis B Immunoglobulin
Universal Vaccination
Postexposure Prophylaxis
Special Populations
Prognosis
Hepatitis C
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Treatment
Newer Treatments
Prevention
Prognosis
Hepatitis D
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Treatment
Prevention
Hepatitis E
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Complications
Diagnosis
Prevention
Approach to Acute or Chronic Hepatitis
Bibliography
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis E
Chapter 359: Liver Abscess
Bibliography
Chapter 360: Liver Disease Associated with Systemic Disorders
Inflammatory Bowel Disease
Bacterial Sepsis
Celiac Disease
Cardiac Disease
Cholestasis Associated with Total Parenteral Nutrition
Cystic Fibrosis
Bone Marrow Transplantation
Hemoglobinopathies
Histiocytic Disorders
Bibliography
360.1 Nonalcoholic Fatty Liver Disease
Bibliography
Chapter 361: Mitochondrial Hepatopathies
Epidemiology
Clinical Manifestations
Primary Mitochondrial Hepatopathies
Neonatal Liver Failure
Alpers Syndrome (Alpers-Huttenlocher Syndrome or Alpers Hepatopathic Poliodystrophy)
Mitochondrial DNA Depletion Syndrome
Navajo Neurohepatopathy
Pearson Syndrome
Villous Atrophy Syndrome
GRACILE Syndrome
Mutations in Nuclear Translation and Elongation Factor Genes
Secondary Mitochondrial Hepatopathies
Treatment of Mitochondrial Hepatopathies
Bibliography
Chapter 362: Autoimmune Hepatitis
Etiology
Pathology
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 363: Drug- and Toxin-Induced Liver Injury
Treatment
Prognosis
Prevention
Bibliography
Chapter 364: Fulminant Hepatic Failure
Etiology
Pathology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Prognosis
Bibliography
Chapter 365: Cystic Diseases of the Biliary Tract and Liver
Choledochal Cysts
Autosomal Recessive Polycystic Kidney Disease
Cystic Dilation of the Intrahepatic Bile Ducts (Caroli Disease)
Congenital Hepatic Fibrosis
Autosomal Dominant Polycystic Kidney Disease
Autosomal Dominant Polycystic Liver Disease
Bibliography
Choledochal Cysts
Caroli Disease
Congenital Hepatic Fibrosis
Polycystic Diseases of the Liver and Kidney
Chapter 366: Diseases of the Gallbladder
Anomalies
Acute Hydrops
Cholecystitis and Cholelithiasis
Biliary Dyskinesia
Bibliography
Chapter 367: Portal Hypertension and Varices
Etiology
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 368: Liver Transplantation
Indications
Technical Innovations
Immunosuppression
Complications
Outcomes
Bibliography
Section 7: Peritoneum
Chapter 369: Malformations
Bibliography
Chapter 370: Ascites
370.1 Chylous Ascites
Bibliography
Bibliography
Chapter 371: Peritonitis
371.1 Acute Primary Peritonitis
Etiology and Epidemiology
Clinical Manifestations
Diagnosis and Treatment
Bibliography
371.2 Acute Secondary Peritonitis
Clinical Manifestations
Treatment
Bibliography
371.3 Acute Secondary Localized Peritonitis (Peritoneal Abscess)
Etiology
Clinical Manifestations
Treatment
Bibliography
Bibliography
Chapter 372: Epigastric Hernia
Clinical Presentation
Bibliography
372.1 Incisional Hernia
Bibliography
Part XIX: Respiratory System
Section 1: Development and Function
Chapter 373: Respiratory Pathophysiology and Regulation
373.1 Lung Volumes and Capacities in Health and Disease
Bibliography
373.2 Chest Wall
Bibliography
373.3 Pulmonary Mechanics and Work of Breathing in Health and Disease
Bibliography
373.4 Airway Dynamics in Health and Disease
Bibliography
373.5 Interpretation of Clinical Signs to Localize the Site of Pathology
Bibliography
373.6 Ventilation-Perfusion Relationship in Health and Disease
Bibliography
373.7 Gas Exchange in Health and Disease
Bibliography
373.8 Interpretation of Blood Gases
Bibliography
373.9 Pulmonary Vasculature in Health and Disease
Bibliography
373.10 Immune Response of the Lung to Injury
373.11 Regulation of Respiration
Central Respiratory Controller
Sensors
Lung Receptors
Effectors
Sleep States
Regulation of Respiration in Special Situations
Fetus, Newborns, and Young Infants
Chronic Hypoxia and Hypercarbia
Bibliography
Bibliography
Chapter 374: Diagnostic Approach to Respiratory Disease
History
Physical Examination
Blood Gas Analysis
Transillumination of the Chest
Radiographic Techniques
Chest X-Rays
Upper Airway Film
Sinus and Nasal Films
Chest Computed Tomography and Magnetic Resonance Imaging
Fluoroscopy
Barium Swallow
Pulmonary Arteriography and Aortograms
Radionuclide Lung Scans
Pulmonary Function Testing
Microbiology: Examination of Lung Secretions
Exercise Testing
Sleep Studies
Airway Visualization and Lung Specimen–Based Diagnostic Tests
Laryngoscopy
Bronchoscopy and Bronchoalveolar Lavage
Thoracoscopy
Thoracentesis
Lung Tap
Lung Biopsy
Sweat Testing
Bibliography
Chapter 375: Sudden Infant Death Syndrome
Epidemiology
Pathology
Environmental Risk Factors
Nonmodifiable Environmental Risk Factors
Modifiable Environmental Risk Factors
Pregnancy-Related Factors
Cigarette Smoking
Drug and Alcohol Use
Infant Sleep Environment
Infant Feeding Care Practices and Exposures
Genetic Risk Factors
Gene-and-Environment Interactions
Infant Groups at Increased Risk for Sudden Infant Death Syndrome
Unexplained Apparent Life-Threatening Events
Subsequent Siblings of a Sudden Infant Death Syndrome Victim
Prematurity
Physiologic Studies
Clinical Strategies
Home Monitoring
Reducing the Risk of Sudden Infant Death Syndrome
Bibliography
Section 2: Disorders of the Respiratory Tract
Chapter 376: Congenital Disorders of the Nose
Normal Newborn Nose
Physiology
Congenital Disorders
Choanal Atresia
Clinical Manifestations
Diagnosis
Treatment
Congenital Defects of the Nasal Septum
Pyriform Aperture Stenosis
Congenital Midline Nasal Masses
Diagnosis and Treatment
Bibliography
Chapter 377: Acquired Disorders of the Nose
377.1 Foreign Body
Etiology
Diagnosis
Treatment
Complications
Prevention
Bibliography
377.2 Epistaxis
Anatomy
Etiology
Clinical Manifestations
Treatment
Prevention
Bibliography
Chapter 378: Nasal Polyps
Etiology
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Bibliography
Chapter 379: The Common Cold
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Laboratory Findings
Treatment
Antiviral Treatment
Supportive Care and Symptomatic Treatment
Fever
Nasal Obstruction
Rhinorrhea
Sore Throat
Cough
Ineffective Treatments
Complications
Prevention
Bibliography
Chapter 380: Sinusitis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Complications
Prevention
Bibliography
Chapter 381: Acute Pharyngitis
Infectious Etiologies
Viruses
Bacteria Other Than Group A Streptococcus
Group A Streptococcus
Diagnosis
Treatment
Chronic Group a Streptococcus Carriers
Recurrent Pharyngitis
Complications and Prognosis
Prevention
Bibliography
Chapter 382: Retropharyngeal Abscess, Lateral Pharyngeal (Parapharyngeal) Abscess, and Peritonsillar Cellulitis/Abscess
Retropharyngeal and Lateral Pharyngeal Abscess
Peritonsillar Cellulitis and/or Abscess
Bibliography
Chapter 383: Tonsils and Adenoids
Anatomy
Normal Function
Pathology
Acute Infection
Chronic Infection
Airway Obstruction
Tonsillar Neoplasm
Clinical Manifestations
Acute Infection
Chronic Infection
Airway Obstruction
Tonsillar Neoplasm
Treatment
Medical Management
Tonsillectomy
Adenoidectomy
Tonsillectomy and Adenoidectomy
Complications
Poststreptococcal Glomerulonephritis and Acute Rheumatic Fever
Peritonsillar Infection
Retropharyngeal Space Infection
Parapharyngeal Space Infection
Recurrent or Chronic Pharyngotonsillitis
Chronic Airway Obstruction
Tonsillectomy and Adenoidectomy
Bibliography
Chapter 384: Chronic or Recurrent Respiratory Symptoms
Judging the Seriousness of Chronic Respiratory Complaints
Recurrent or Persistent Cough
Frequently Recurring or Persistent Stridor
Recurrent or Persistent Wheeze
Recurrent and Persistent Lung Infiltrates
Bibliography
Chapter 385: Acute Inflammatory Upper Airway Obstruction (Croup, Epiglottitis, Laryngitis, and Bacterial Tracheitis)
385.1 Infectious Upper Airway Obstruction
Etiology and Epidemiology
Clinical Manifestations
Croup (Laryngotracheobronchitis)
Acute Epiglottitis (Supraglottitis)
Acute Infectious Laryngitis
Spasmodic Croup
Differential Diagnosis
Complications
Treatment
Endotracheal/Nasotracheal Intubation and Tracheotomy
Prognosis
Bibliography
Laryngotracheobronchitis
Epiglottitis
385.2 Bacterial Tracheitis
Clinical Manifestations
Diagnosis
Treatment
Complications
Prognosis
Bibliography
Chapter 386: Congenital Anomalies of the Larynx, Trachea, and Bronchi
386.1 Laryngomalacia
Clinical Manifestations
Diagnosis
Treatment
Bibliography
386.2 Congenital Subglottic Stenosis
Clinical Manifestations
Diagnosis
Bibliography
386.3 Vocal Cord Paralysis
Clinical Manifestations
Diagnosis
Treatment
386.4 Congenital Laryngeal Webs and Atresia
Bibliography
386.5 Congenital Subglottic Hemangioma
Bibliography
386.6 Laryngoceles and Saccular Cysts
Bibliography
386.7 Posterior Laryngeal Cleft and Laryngotracheoesophageal Cleft
Bibliography
386.8 Vascular and Cardiac Anomalies
Bibliography
386.9 Tracheal Stenoses, Webs, and Atresia
Bibliography
386.10 Foregut Cysts
Bibliography
386.11 Tracheomalacia and Bronchomalacia
Bibliography
Chapter 387: Foreign Bodies in the Airway
Epidemiology and Etiology
Clinical Manifestations
Diagnosis
Treatment
387.1 Laryngeal Foreign Bodies
387.2 Tracheal Foreign Bodies
387.3 Bronchial Foreign Bodies
Bibliography
Chapter 388: Laryngotracheal Stenosis and Subglottic Stenosis
388.1 Congenital Subglottic Stenosis
388.2 Acquired Laryngotracheal Stenosis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 389: Bronchomalacia and Tracheomalacia
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 390: Neoplasms of the Larynx, Trachea, and Bronchi
390.1 Vocal Nodules
390.2 Recurrent Respiratory Papillomatosis
Clinical Manifestations
Treatment
Bibliography
390.3 Congenital Subglottic Hemangioma
Clinical Manifestations
Treatment
Bibliography
390.4 Vascular Anomalies
Bibliography
390.5 Other Laryngeal Neoplasms
390.6 Tracheal Neoplasms
390.7 Bronchial Tumors
Chapter 391: Wheezing, Bronchiolitis, and Bronchitis
391.1 Wheezing in Infants: Bronchiolitis
Definitions and General Pathophysiology
Etiology
Acute Bronchiolitis and Inflammation of the Airway
Other Causes
Clinical Manifestations
History and Physical Examination
Diagnostic Evaluation
Treatment
Prognosis
Prevention
Bibliography
391.2 Bronchitis
Acute Bronchitis
Clinical Manifestations
Differential Diagnosis
Treatment
Chronic Bronchitis
Cigarette Smoking and Air Pollution
Bibliography
391.3 Plastic Bronchitis
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Complications and Prognosis
Bibliography
Chapter 392: Emphysema and Overinflation
Localized Obstructive Overinflation
Unilateral Hyperlucent Lung
Swyer-James or Macleod Syndrome
Congenital Lobar Emphysema
Pulmonary Vascular Abnormalities
Generalized Obstructive Overinflation
Pathology
Clinical Manifestations
Diagnosis
Bullous Emphysema
Subcutaneous Emphysema
Bibliography
Chapter 393: α1-Antitrypsin Deficiency and Emphysema
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Supportive Therapy
Bibliography
Chapter 394: Other Distal Airway Diseases
394.1 Bronchiolitis Obliterans
Epidemiology
Pathogenesis
Clinical Manifestations and Diagnosis
Treatment
Prognosis
Bibliography
394.2 Follicular Bronchitis
Bibliography
394.3 Pulmonary Alveolar Microlithiasis
Epidemiology and Etiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 395: Congenital Disorders of the Lung
395.1 Pulmonary Agenesis and Aplasia
Etiology and Pathology
Clinical Manifestations and Prognosis
Diagnosis and Treatment
Bibliography
395.2 Pulmonary Hypoplasia
Etiology and Pathology
Clinical Manifestations
Diagnosis and Treatment
Bibliography
395.3 Congenital Cystic Malformation
Pathology
Etiology
Diagnosis
Clinical Manifestations
Treatment
Bibliography
395.4 Pulmonary Sequestration
Pathophysiology
Clinical Manifestations and Diagnosis
Treatment
Bibliography
395.5 Bronchogenic Cysts
Etiology and Pathology
Clinical Manifestations and Treatment
Bibliography
395.6 Congenital Pulmonary Lymphangiectasia
Etiology and Pathology
Clinical Manifestations and Treatment
Bibliography
395.7 Lung Hernia
Etiology and Pathology
Clinical Manifestations and Treatment
Bibliography
395.8 Other Congenital Malformations of the Lung
Congenital Lobar Emphysema and Pulmonary Cysts
Pulmonary Arteriovenous Malformation
Bronchobiliary Fistula
Bibliography
Chapter 396: Pulmonary Edema
Pathophysiology
Etiology
Clinical Manifestations
Treatment
Bibliography
Chapter 397: Aspiration Syndromes
Gastric Contents
Treatment
Prevention
Hydrocarbon Aspiration
Treatment
Bibliography
Chapter 398: Chronic Recurrent Aspiration
Etiology
Diagnosis
Treatment
Bibliography
Chapter 399: Immune and Inflammatory Lung Disease
399.1 Hypersensitivity Pneumonia
Etiology
Classification and Pathogenesis
Clinical Manifestations
Laboratory
Lung Biopsy
Radiology
Antigen Challenge By Inhalation
Treatment
Bibliography
399.2 Occupational and Environmental Lung Disease
Classification and Pathogenesis
Occupational and Environmental Asthma
Reactive Airways Disease Syndrome and Irritant-Induced Asthma
Treatment
Bibliography
399.3 Granulomatous Lung Disease
Granulomatosis with Polyangiitis
Etiology and Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory and Pathology
Radiology
Treatment
Sarcoidosis
Epidemiology and Pathogenesis
Clinical Manifestations
Diagnostic Laboratory Testing
Histopathology
Radiology
Treatment
Berylliosis
Pathogenesis
Clinical Manifestations
Laboratory Testing
Radiography
Treatment
Granulomatous Lung Disease in Primary Immune Deficiency
Pathogenesis
Clinical Manifestations of Granulomatous Lung Disease in Primary Immune Deficiency
Radiography
Laboratory and Pulmonary Function Testing
Therapy
Bibliography
399.4 Eosinophilic Lung Disease
Etiology
Pathology and Pathogenesis
Clinical Manifestations
Chest Imaging
Löffler Syndrome
Acute Eosinophilic Pneumonia
Chronic Eosinophilic Pneumonia
Eosinophilic Granulomatosis with Polyangiitis (The Churg-Strauss Syndrome)
Allergic Bronchopulmonary Aspergillosis
Radiography
Treatment
Hypereosinophilic Syndrome
Bibliography
399.5 Interstitial Lung Disease
Classification and Pathology
Clinical Manifestations
Diagnosis
Radiography
Pulmonary Function Tests
Bronchoalveolar Lavage
Treatment
Genetic Counseling
Prognosis
Goodpasture Disease
Pathophysiology
Immunology Factors
Genetic Factors
Environmental Factors
Clinical Manifestations
Laboratory
Chest Radiography
Pulmonary Function Testing
Bronchoscopy and Bronchoalveolar Lavage
Lung Biopsy
Treatment
Bibliography
Chapter 400: Community-Acquired Pneumonia
Epidemiology
Etiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Complications
Prevention
Bibliography
Chapter 401: Bronchiectasis
Pathophysiology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 402: Pulmonary Abscess
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 403: Cystic Fibrosis
Genetics
Pathogenesis
Pathology
Clinical Manifestations
Respiratory Tract
Intestinal Tract
Biliary Tract
Cystic Fibrosis–Related Diabetes and Pancreatitis
Genitourinary Tract
Sweat Glands
Diagnosis and Assessment
Sweat Testing
DNA Testing
Other Diagnostic Tests
Pancreatic Function
Radiology
Pulmonary Function
Microbiologic Studies
Heterozygote Detection and Prenatal Diagnosis
Newborn Screening
Treatment
General Approach to Care
Pulmonary Therapy
Inhalation Therapy
Airway Clearance Therapy
Antibiotic Therapy
Oral Antibiotic Therapy
Aerosolized Antibiotic Therapy
Intravenous Antibiotic Therapy
Bronchodilator Therapy
Antiinflammatory Agents
Endoscopy and Lavage
Other Therapies
Emerging Therapies
Treatment of Pulmonary Complications
Atelectasis
Hemoptysis
Pneumothorax
Allergic Bronchopulmonary Aspergillosis
Nontuberculous Mycobacteria Infection
Bone and Joint Complications
Sleep-Disordered Breathing
Acute Respiratory Failure
Chronic Respiratory Failure
Heart Failure
Nutritional Therapy
Diet
Pancreatic Enzyme Replacement
Vitamin and Mineral Supplements
Treatment of Intestinal Complications
Meconium Ileus
Distal Intestinal Obstruction Syndrome (Meconium Ileus Equivalent) and Other Causes of Abdominal Symptoms
Gastroesophageal Reflux
Rectal Prolapse
Hepatobiliary Disease
Pancreatitis
Hyperglycemia
Other Therapy
Nasal Polyps
Rhinosinusitis
Salt Depletion
Growth and Maturation
Surgery
Prognosis
Bibliography
Chapter 404: Primary Ciliary Dyskinesia (Immotile Cilia Syndrome, Kartagener Syndrome)
Normal Ciliary Ultrastructure and Function
Genetics of Primary Ciliary Dyskinesia
Clinical Manifestations of Primary Ciliary Dyskinesia
Diagnosis of Primary Ciliary Dyskinesia
Treatment
Prognosis
Bibliography
Chapter 405: Diffuse Lung Diseases in Childhood
405.1 Inherited Disorders of Surfactant Metabolism
Pathology
Deficiency of Surfactant Protein B (Surfactant Metabolism Dysfunction, Pulmonary, 1; SMDP1; OMIM #265120)
Clinical Manifestations
Genetics
Diagnosis
Surfactant Protein C Gene Abnormalities (Surfactant Metabolism Dysfunction, Pulmonary, 2; SMDP2; OMIM #610913)
Clinical Manifestations
Genetics
Diagnosis
Disease Caused by Mutations in ABCA3 (Surfactant Metabolism Dysfunction, Pulmonary, 3; SMDP3; OMIM #610921)
Clinical Manifestations
Genetics
Diagnosis
Disease Caused by Mutations in NKX2-1 (Thyroid Transcription Factor 1, Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress, OMIM #600635)
Clinical Manifestations
Genetics
Diagnosis
Treatment of Surfactant Dysfunction Disorders
Bibliography
405.2 Pulmonary Alveolar Proteinosis
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 406: Pulmonary Hemosiderosis
Etiology
Epidemiology
Pathology
Pathophysiology
Diffuse Alveolar Hemorrhage Associated with Pulmonary Capillaritis
Diffuse Alveolar Hemorrhage Not Associated with Pulmonary Capillaritis
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
Prognosis
Bibliography
Chapter 407: Pulmonary Embolism, Infarction, and Hemorrhage
407.1 Pulmonary Embolus and Infarction
Etiology
Epidemiology
Pathophysiology
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
Prognosis
Bibliography
407.2 Pulmonary Hemorrhage and Hemoptysis
Etiology
Epidemiology
Pathophysiology
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
Bibliography
Chapter 408: Atelectasis
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 409: Pulmonary Tumors
Etiology
Clinical Manifestations and Evaluation
Bibliography
Chapter 410: Pleurisy, Pleural Effusions, and Empyema
410.1 Dry or Plastic Pleurisy (Pleural Effusion)
Etiology
Pathology and Pathogenesis
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
410.2 Serofibrinous or Serosanguineous Pleurisy (Pleural Effusion)
Etiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Bibliography
410.3 Purulent Pleurisy or Empyema
Etiology
Epidemiology
Pathology
Clinical Manifestations
Laboratory Findings
Complications
Treatment
Bibliography
Chapter 411: Pneumothorax
Etiology and Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Bibliography
Chapter 412: Pneumomediastinum
Etiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Complications
Treatment
Bibliography
Chapter 413: Hydrothorax
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
Chapter 414: Hemothorax
Etiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 415: Chylothorax
Etiology
Clinical Manifestations
Laboratory Findings
Complications
Treatment
Bibliography
Chapter 416: Bronchopulmonary Dysplasia
Clinical Manifestations
Treatment
Bibliography
Chapter 417: Skeletal Diseases Influencing Pulmonary Function
417.1 Pectus Excavatum (Funnel Chest)
Etiology
Epidemiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
417.2 Pectus Carinatum and Sternal Clefts
Pectus Carinatum
Etiology and Epidemiology
Clinical Manifestations
Treatment
Sternal Clefts
Bibliography
417.3 Asphyxiating Thoracic Dystrophy (Thoracic-Pelvic-Phalangeal Dystrophy)
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
417.4 Achondroplasia
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
417.5 Kyphoscoliosis: Adolescent Idiopathic Scoliosis and Congenital Scoliosis
Etiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
417.6 Congenital Rib Anomalies
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 418: Chronic Severe Respiratory Insufficiency
418.1 Neuromuscular Diseases
Pathogenesis
Treatment
Bibliography
418.2 Congenital Central Hypoventilation Syndrome
Genetics
Ventilator Dependence
Hirschsprung Disease
Tumors of Neural Crest Origin
Cardiac Asystole
Autonomic Nervous System Dysregulation
Facial Phenotype
Neuropathology
Clinical Manifestations
Differential Diagnosis
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
Management
Supported Ventilation—Diaphragm Pacing
Monitoring in the Home
Bibliography
418.3 Other Conditions
Myelomeningocele with Arnold-Chiari Type II Malformation
Management
Rapid-Onset Obesity, Hypothalamic Dysfunction, and Autonomic Dysregulation
Obesity Hypoventilation Syndrome
Management
Acquired Alveolar Hypoventilation
Obstructive Sleep Apnea
Epidemiology
Pathophysiology
Clinical Presentation
Treatment
Spinal Cord Injury
Epidemiology
Pathophysiology
Management
Metabolic Disease
Mucopolysaccharidoses
Dysplasias
Glycogenosis Type Ii
Severe Tracheomalacia and/or Bronchomalacia (Airway Malacia)
Neuropathy of Severe Illness
Hematologic Stem-Cell Transplantation
Mitochondrial Diseases
Bibliography
418.4 Long-Term Mechanical Ventilation
Respiratory Equipment for Home Care
Noninvasive Equipment
Rocker Bed
Cuirasse
Iron Lung
Diaphragmatic Pacing
Positive-Pressure Ventilators
Airway Clearance
Physical Therapy, Occupational Therapy, and Speech Therapy
Infections
Monitoring
Weaning Off Ventilator Support
Discharge Process
Outpatient Follow Up
Transition of Care
Bibliography
Chapter 419: Extrapulmonary Diseases with Pulmonary Manifestations
Evaluation
Bibliography
Part XX: The Cardiovascular System
Section 1: Developmental Biology of the Cardiovascular System
Chapter 420: Cardiac Development
420.1 Early Cardiac Morphogenesis
420.2 Cardiac Looping
420.3 Cardiac Septation
420.4 Aortic Arch Development
420.5 Cardiac Differentiation
420.6 Developmental Changes in Cardiac Function
Bibliography
Chapter 421: The Fetal to Neonatal Circulatory Transition
421.1 The Fetal Circulation
421.2 The Transitional Circulation
421.3 The Neonatal Circulation
Bibliography
421.4 Persistent Pulmonary Hypertension of the Neonate (Persistence of Fetal Circulatory Pathways)
Section 2: Evaluation of the Cardiovascular System
Chapter 422: History and Physical Examination
History
General Physical Examination
Cardiac Examination
Bibliography
Chapter 423: Laboratory Evaluation
423.1 Radiologic Assessment
423.2 Electrocardiography
Developmental Changes
Rate and Rhythm
P Waves
QRS Complex
Right Ventricular Hypertrophy
Left Ventricular Hypertrophy
Bundle Branch Block
P-R and Q-T Intervals
ST Segment and T-Wave Abnormalities
Bibliography
423.3 Hematologic Data
423.4 Echocardiography
M-Mode Echocardiography
Two-Dimensional Echocardiography
Doppler Echocardiography
Three-Dimensional Echocardiography
Transesophageal Echocardiography
Fetal Echocardiography
Bibliography
423.5 Exercise Testing
Bibliography
423.6 MRI, MRA, CT, and Radionuclide Studies
Bibliography
423.7 Diagnostic and Interventional Cardiac Catheterization
Diagnostic Cardiac Catheterization
Thermodilution Measurement of Cardiac Output
Angiocardiography
Interventional Cardiac Catheterization
Bibliography
Section 3: Congenital Heart Disease
Chapter 424: Epidemiology and Genetic Basis of Congenital Heart Disease
Prevalence
Etiology
Genetic Counseling
Bibliography
Chapter 425: Evaluation and Screening of the Infant or Child with Congenital Heart Disease
Acyanotic Congenital Heart Lesions
Lesions Resulting in Increased Volume Load
Lesions Resulting in Increased Pressure Load
Cyanotic Congenital Heart Lesions
Cyanotic Lesions with Decreased Pulmonary Blood Flow
Cyanotic Lesions with Increased Pulmonary Blood Flow
Bibliography
Chapter 426: Acyanotic Congenital Heart Disease: Left-to-Right Shunt Lesions
426.1 Atrial Septal Defect
Bibliography
426.2 Ostium Secundum Defect
Pathophysiology
Clinical Manifestations
Diagnosis
Complications
Treatment
Prognosis
426.3 Sinus Venosus Atrial Septal Defect
426.4 Partial Anomalous Pulmonary Venous Return
426.5 Atrioventricular Septal Defects (Ostium Primum and Atrioventricular Canal or Endocardial Cushion Defects)
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
426.6 Ventricular Septal Defect
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
426.7 Supracristal Ventricular Septal Defect with Aortic Insufficiency
426.8 Patent Ductus Arteriosus
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
Patent Ductus Arteriosus in Low Birthweight Infants
Bibliography
426.9 Aortopulmonary Window Defect
426.10 Coronary Artery Fistula
426.11 Ruptured Sinus of Valsalva Aneurysm
Chapter 427: Acyanotic Congenital Heart Disease: Obstructive Lesions
427.1 Pulmonary Valve Stenosis with Intact Ventricular Septum
Pathophysiology
Clinical Manifestations and Laboratory Findings
Treatment
Prognosis and Complications
Bibliography
427.2 Infundibular Pulmonary Stenosis and Double-Chamber Right Ventricle
427.3 Pulmonary Stenosis in Combination with an Intracardiac Shunt
427.4 Peripheral Pulmonary Stenosis
427.5 Aortic Stenosis
Pathophysiology
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
Prognosis
Bibliography
427.6 Coarctation of the Aorta
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Postcoarctectomy Syndrome
Prognosis
Bibliography
427.7 Coarctation with Ventricular Septal Defect
427.8 Coarctation with Other Cardiac Anomalies and Interrupted Aortic Arch
427.9 Congenital Mitral Stenosis
Bibliography
427.10 Pulmonary Venous Hypertension
Chapter 428: Acyanotic Congenital Heart Disease: Regurgitant Lesions
428.1 Pulmonary Valvular Insufficiency and Congenital Absence of the Pulmonary Valve
Bibliography
428.2 Congenital Mitral Insufficiency
428.3 Mitral Valve Prolapse
Bibliography
428.4 Tricuspid Regurgitation
Bibliography
Chapter 429: Cyanotic Congenital Heart Disease: Evaluation of the Critically Ill Neonate with Cyanosis and Respiratory Distress
Cardiac Disease Leading to Cyanosis
Differential Diagnosis
Chapter 430: Cyanotic Congenital Heart Lesions: Lesions Associated with Decreased Pulmonary Blood Flow
430.1 Tetralogy of Fallot
Pathophysiology
Clinical Manifestations
Diagnosis
Complications
Associated Anomalies
Treatment
Prognosis
Bibliography
430.2 Tetralogy of Fallot with Pulmonary Atresia
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
430.3 Pulmonary Atresia with Intact Ventricular Septum
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
430.4 Tricuspid Atresia
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
430.5 Double-Outlet Right Ventricle
430.6 Transposition of the Great Arteries with Ventricular Septal Defect and Pulmonary Stenosis
430.7 Ebstein Anomaly of the Tricuspid Valve
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
Bibliography
Chapter 431: Cyanotic Congenital Heart Disease: Lesions Associated with Increased Pulmonary Blood Flow
431.1 D-Transposition of the Great Arteries
431.2 D-Transposition of the Great Arteries with Intact Ventricular Septum
Clinical Manifestations
Diagnosis
Treatment
431.3 Transposition of the Great Arteries with Ventricular Septal Defect
431.4 L-Transposition of the Great Arteries (Corrected Transposition)
Clinical Manifestations
Diagnosis
Bibliography
431.5 Double-Outlet Right Ventricle Without Pulmonary Stenosis
431.6 Double-Outlet Right Ventricle with Malposition of the Great Arteries (Taussig-Bing Anomaly)
431.7 Total Anomalous Pulmonary Venous Return
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
431.8 Truncus Arteriosus
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
Bibliography
431.9 Single Ventricle (Double-Inlet Ventricle, Univentricular Heart)
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
431.10 Hypoplastic Left-Heart Syndrome
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
Prevention
Bibliography
431.11 Abnormal Positions of the Heart and the Heterotaxy Syndromes (Asplenia, Polysplenia)
Bibliography
Chapter 432: Other Congenital Heart and Vascular Malformations
432.1 Anomalies of the Aortic Arch
Right Aortic Arch
Vascular Rings
Clinical Manifestations
Diagnosis
Treatment
Bibliography
432.2 Anomalous Origin of the Coronary Arteries
Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery
Clinical Manifestations
Diagnosis
Treatment and Prognosis
Anomalous Origin of the Right Coronary Artery From the Pulmonary Artery
Ectopic Origin of the Coronary Artery From the Aorta with Aberrant Proximal Course
Bibliography
432.3 Pulmonary Arteriovenous Fistula
Bibliography
432.4 Ectopia Cordis
432.5 Diverticulum of the Left Ventricle
Chapter 433: Pulmonary Hypertension
433.1 Primary Pulmonary Hypertension
Pathophysiology
Clinical Manifestations
Diagnosis
Prognosis and Treatment
433.2 Pulmonary Vascular Disease (Eisenmenger Syndrome)
Pathophysiology
Pathology and Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 434: General Principles of Treatment of Congenital Heart Disease
Postoperative Management
Long-Term Management
Bibliography
434.1 Congenital Heart Disease in Adults
Long-Term Medical Considerations
Specific Lesions
Left-to-Right Shunts
Atrial Septal Defects
Late Outcome Following Closure of Atrial Septal Defect
Ventricular Septal Defects
Complete Atrioventricular Canal
Patent Ductus Arteriosus
Cyanotic Heart Disease
Tetralogy of Fallot
Transposition of the Great Arteries
Pulmonary Valve Stenosis
Left-Sided Obstructive Lesions
Coarctation of the Aorta
Aortic Valve Stenosis
Endocarditis Prophylaxis
Pregnancy and Congenital Heart Disease
Contraception
Adolescent Transition
Bibliography
Section 4: Cardiac Arrhythmias
Chapter 435: Disturbances of Rate and Rhythm of the Heart
435.1 Principles of Antiarrhythmic Therapy
435.2 Sinus Arrhythmias and Extrasystoles
435.3 Supraventricular Tachycardia
Clinical Manifestations
Treatment
435.4 Ventricular Tachyarrhythmias
435.5 Long QT Syndromes
435.6 Sinus Node Dysfunction
435.7 AV Block
Bibliography
Chapter 436: Sudden Death
Mechanism of Sudden Death
Congenital Heart Disease
Cardiomyopathy
Cardiac Arrhythmia
Miscellaneous Causes
Evaluation and Therapy for Resuscitated Patients
Medication for Attention-Deficit Disorder
Prevention of Sudden Death
Bibliography
Section 5: Acquired Heart Disease
Chapter 437: Infective Endocarditis
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Prognosis and Complications
Treatment
Prevention
Bibliography
Chapter 438: Rheumatic Heart Disease
Patterns of Valvular Disease
Mitral Insufficiency
Pathophysiology
Clinical Manifestations
Complications
Treatment
Mitral Stenosis
Pathophysiology
Clinical Manifestations
Treatment
Aortic Insufficiency
Clinical Manifestations
Prognosis and Treatment
Tricuspid Valve Disease
Pulmonary Valve Disease
Bibliography
Section 6: Diseases of the Myocardium and Pericardium
Chapter 439: Diseases of the Myocardium
439.1 Dilated Cardiomyopathy
Etiology and Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Prognosis and Management
Bibliography
439.2 Hypertrophic Cardiomyopathy
Etiology and Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Prognosis and Management
Bibliography
439.3 Restrictive Cardiomyopathy
Etiology and Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Prognosis and Management
Bibliography
439.4 Left Ventricular Noncompaction, Arrhythmogenic Right Ventricular Cardiomyopathy, and Endocardial Fibroelastosis
Bibliography
439.5 Myocarditis
Etiology and Epidemiology
Viral Infections
Bacterial Infections
Pathophysiology
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Bibliography
Bibliography
Chapter 440: Diseases of the Pericardium
440.1 Acute Pericarditis
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Infectious Pericarditis
Noninfectious Pericarditis
440.2 Constrictive Pericarditis
Bibliography
Chapter 441: Tumors of the Heart
Bibliography
Section 7: Cardiac Therapeutics
Chapter 442: Heart Failure
Pathophysiology
Clinical Manifestations
Diagnosis
Treatment
General Measures
Diet
Diuretics
Afterload Reducers, Including Angiotensin-Converting Enzyme Inhibitors and Angiotensin II Receptor Blockers
Digitalis Glycosides
α- and β-Adrenergic Agonists
Phosphodiesterase Inhibitors
Chronic Treatment with β-Blockers
Electrophysiologic Approaches to Heart Failure Management
442.1 Cardiogenic Shock
Bibliography
Chapter 443: Pediatric Heart and Heart-Lung Transplantation
443.1 Pediatric Heart Transplantation
Indications
Recipient and Donor Selection
Perioperative Management
Diagnosis and Management of Acute Graft Rejection
Complications of Immunosuppression
Infection
Growth Retardation
Hypertension
Renal Function
Neurologic Complications
Tumors
Chronic Rejection
Other Complications
Rehabilitation
Bibliography
443.2 Heart-Lung and Lung Transplantation
Bibliography
Section 8: Diseases of the Peripheral Vascular System
Chapter 444: Diseases of the Blood Vessels (Aneurysms and Fistulas)
444.1 Kawasaki Disease
444.2 Arteriovenous Fistulas
Clinical Manifestations
Treatment
444.3 Generalized Arterial Calcification of Infancy/Idiopathic Infantile Arterial Calcification
444.4 Arterial Calcifications Caused by Deficiency of CD73
Bibliography
Chapter 445: Systemic Hypertension
Prevalence of Hypertension in Children
Definition of Hypertension
Measurement of BP in Children
Etiology and Pathophysiology
Clinical Manifestations
Diagnosis
Prevention
Treatment
Bibliography
Part XXI: Diseases of the Blood
Section 1: The Hematopoietic System
Chapter 446: Development of the Hematopoietic System
Hematopoiesis in the Human Embryo and Fetus
Fetal Granulocytopoiesis
Fetal Thrombopoiesis
Fetal Erythropoiesis
Hemoglobins in the Fetus and Neonate
Embryonic Hemoglobins
Fetal Hemoglobin
Adult Hemoglobins
Normal Relationships Among the Hemoglobins
Alterations of the Hemoglobins by Disease
Red Cell Life Span of the Fetus and Neonate
Bibliography
Chapter 447: The Anemias
History and Physical Examination
Laboratory Studies
Differential Diagnosis
Bibliography
Section 2: Anemias of Inadequate Production
Chapter 448: Congenital Hypoplastic Anemia (Diamond-Blackfan Anemia)
Etiology
Epidemiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 449: Pearson Syndrome
Bibliography
Chapter 450: Acquired Pure Red Blood Cell Anemia
Transient Erythroblastopenia of Childhood
Red Cell Aplasia Associated with Parvovirus B19 Infection
Chronic Hemolysis
Immunodeficiency
Miscarriage and Hydrops Fetalis
Other Red Cell Aplasias in Children
Bibliography
Chapter 451: Anemia of Chronic Disease and Renal Disease
451.1 Anemia of Chronic Disease
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
451.2 Anemia of Renal Disease
Etiology
Laboratory Findings
Treatment
Bibliography
Chapter 452: Congenital Dyserythropoietic Anemias
Type I Congenital Dyserythropoietic Anemia
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Type II Congenital Dyserythropoietic Anemia
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Type III Congenital Dyserythropoietic Anemia
Bibliography
Chapter 453: Physiologic Anemia of Infancy
Treatment
Bibliography
Chapter 454: Megaloblastic Anemias
454.1 Folic Acid Deficiency
Etiology
Inadequate Folate Intake
Decreased Folate Absorption
Congenital Abnormalities in Folate Transport and Metabolism
Drug-Induced Abnormalities in Folate Metabolism
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
454.2 Vitamin B12 (Cobalamin) Deficiency
Metabolism
Etiology
Inadequate Vitamin B12 Intake
Impaired Absorption
Absence of Vitamin B12 Transport Protein
Inborn Errors of Cobalamin Metabolism
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Bibliography
454.3 Other Rare Megaloblastic Anemias
Bibliography
Chapter 455: Iron-Deficiency Anemia
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Prevention
Treatment
Bibliography
Chapter 456: Other Microcytic Anemias
Infantile Poikilocytosis and Hereditary Pyropoikilocytosis
Copper Deficiency
Defects of Iron Metabolism
Bibliography
Section 3: Hemolytic Anemias
Chapter 457: Definitions and Classification of Hemolytic Anemias
Chapter 458: Hereditary Spherocytosis
Etiology
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
General Supportive Care
Guidelines for Splenectomy
Bibliography
Chapter 459: Hereditary Elliptocytosis
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
Chapter 460: Hereditary Stomatocytosis
Hydrocytosis
Pathophysiology
Clinical Features
Xerocytosis
Pathophysiology
Clinical Features
Intermediate Syndromes
Other Disorders Associated with Stomatocytosis
Treatment
Bibliography
Chapter 461: Paroxysmal Nocturnal Hemoglobinuria and Acanthocytosis
Paroxysmal Nocturnal Hemoglobinuria
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Acanthocytosis
Bibliography
Chapter 462: Hemoglobinopathies
Hemoglobin Disorders
462.1 Sickle Cell Disease
Pathophysiology
Diagnosis and Epidemiology
Clinical Manifestations and Treatment of Sickle Cell Anemia (Hb SS)
Fever and Bacteremia
Aplastic Crisis
Splenic Sequestration
Hepatic and Gallbladder Involvement
Sickle Cell Pain
Avascular Necrosis
Priapism
Neurologic Complications
Transcranial Doppler Ultrasonography
Pulmonary Complications
Renal Disease and Enuresis
Cognitive and Psychological Complications
Other Complications
Therapeutic Considerations
Hydroxyurea
Hematopoietic Stem Cell Transplantation
Red Blood Cell Transfusions
Excessive Iron Stores
Other Sickle Cell Syndromes
Anticipatory Guidance
Spleen Palpation
Prophylactic Penicillin
Immunizations
Transcranial Doppler Ultrasound
Hydroxyurea
Regular Blood Transfusion Therapy
Pulmonary and Asthma Screening
Retinopathy
Renal
Echocardiography
Bibliography
462.2 Sickle Cell Trait (Hemoglobin AS)
462.3 Other Hemoglobinopathies
Hemoglobin C
Hemoglobin E
Hemoglobin D
462.4 Unstable Hemoglobin Disorders
462.5 Abnormal Hemoglobins with Increased Oxygen Affinity
462.6 Abnormal Hemoglobins Causing Cyanosis
462.7 Hereditary Methemoglobinemia
462.8 Hereditary Methemoglobinemia with Deficiency of NADH Cytochrome b5 Reductase
462.9 Syndromes of Hereditary Persistence of Fetal Hemoglobin
462.10 Thalassemia Syndromes
Epidemiology
Pathophysiology
Homozygous β-Thalassemia (Thalassemia Major, Cooley Anemia)
Clinical Manifestations
Laboratory Findings
Management and Treatment of Thalassemia
Transfusion Therapy
Guidelines for Transfusion Therapy.
Iron Overload Monitoring
Chelation Therapy
Hydroxyurea
Hematopoietic Stem Cell Transplantation
Splenectomy
Surgical Asplenia
Preventative Monitoring of Thalassemia Patients
Cardiac.
Endocrine.
Psychosocial Support.
Other β-Thalassemia Syndromes
Nontransfusion-Dependent Thalassemia: β-Thalassemia Intermedia
α-Thalassemia Syndromes
Bibliography
Chapter 463: Enzymatic Defects
463.1 Pyruvate Kinase Deficiency
Etiology
Clinical Manifestations and Laboratory Findings
Treatment
463.2 Other Glycolytic Enzyme Deficiencies
Deficiencies of Enzymes of the Hexose Monophosphate Pathway
463.3 Glucose-6-Phosphate Dehydrogenase Deficiency and Related Deficiencies
Episodic or Induced Hemolytic Anemia
Etiology
Clinical Manifestations
Laboratory Findings
Diagnosis
Prevention and Treatment
Chronic Hemolytic Anemias Associated with Deficiency of G6PD or Related Factors
Bibliography
Chapter 464: Hemolytic Anemias Resulting from Extracellular Factors—Immune Hemolytic Anemias
Autoimmune Hemolytic Anemias
Autoimmune Hemolytic Anemias Associated with “Warm” Antibodies
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Course and Prognosis
Autoimmune Hemolytic Anemias Associated with “Cold” Antibodies
Cold Agglutinin Disease
Paroxysmal Cold Hemoglobinuria
Bibliography
Chapter 465: Hemolytic Anemias Secondary to Other Extracellular Factors
Fragmentation Hemolysis
Thermal Injury
Renal Disease
Liver Disease
Toxins and Venoms
Wilson Disease
Bibliography
Section 4: Polycythemia (Erythrocytosis)
Chapter 466: Polycythemia
Clonal (Primary) Polycythemia (Polycythemia Rubra Vera)
Pathogenesis
Clinical Manifestations
Treatment
Bibliography
Chapter 467: Non-Clonal Polycythemia
Pathogenesis
Congenital Polycythemia
Acquired Polycythemia
Diagnosis
Treatment
Bibliography
Section 5: The Pancytopenias
Chapter 468: The Inherited Pancytopenias
Fanconi Anemia
Etiology and Epidemiology
Pathology
Clinical Manifestations
Laboratory Findings
Complications
Diagnosis
Treatment
Prognosis
Shwachman-Diamond Syndrome
Etiology and Epidemiology
Pathology
Clinical Manifestations
Laboratory Findings
Diagnosis
Complications
Treatment
Prognosis
Dyskeratosis Congenita
Etiology and Epidemiology
Pathology
Clinical Manifestations
Laboratory Findings
Diagnosis
Complications
Treatment
Prognosis
Congenital Amegakaryocytic Thrombocytopenia
Etiology and Epidemiology
Clinical Manifestations
Laboratory Findings
Diagnosis
Complications
Therapy and Prognosis
Other Inherited Syndromes
Down Syndrome
Dubowitz Syndrome
Seckel Syndrome
Reticular Dysgenesis
Schimke Immunoosseous Dysplasia
Noonan Syndrome
Cartilage-Hair Hypoplasia
Unclassified Inherited Bone Marrow Failure Syndromes
Bibliography
Chapter 469: The Acquired Pancytopenias
Etiology and Epidemiology
Pathology and Pathogenesis
Clinical Manifestations, Laboratory Findings, and Differential Diagnosis
Treatment
Complications
Prognosis
Pancytopenia Caused by Marrow Replacement
Bibliography
Section 6: Blood Component Transfusions
Chapter 470: Red Blood Cell Transfusions and Erythropoietin Therapy
Bibliography
Chapter 471: Platelet Transfusions
Bibliography
Chapter 472: Neutrophil (Granulocyte) Transfusions
Bibliography
Chapter 473: Plasma Transfusions
Bibliography
Chapter 474: Risks of Blood Transfusions
Bibliography
Section 7: Hemorrhagic and Thrombotic Diseases
Chapter 475: Hemostasis
The Process
Pathology
475.1 Clinical and Laboratory Evaluation of Hemostasis
History
Physical Examination
Laboratory Tests
Platelet Count
Prothrombin Time and Activated Partial Thromboplastin Time
Partial Thromboplastin Time
Thrombin Time
Reptilase Time
Mixing Studies
Bleeding Time
Platelet Function Analyzer
D-Dimer
Clotting Factor Assays
Platelet Aggregation
Testing for Thrombotic Predisposition
Elevated Homocysteine
Tests of the Fibrinolytic System
Developmental Hemostasis
Bibliography
Chapter 476: Hereditary Clotting Factor Deficiencies (Bleeding Disorders)
476.1 Factor VIII or Factor IX Deficiency (Hemophilia A or B)
Pathophysiology
Clinical Manifestations
Laboratory Findings and Diagnosis
Differential Diagnosis
Genetics and Classification
Treatment
Prophylaxis
Supportive Care
Chronic Complications
Inhibitor Formation
Comprehensive Care
Bibliography
476.2 Factor XI Deficiency (Hemophilia C)
Bibliography
476.3 Deficiencies of the Contact Factors (Nonbleeding Disorders)
476.4 Factor VII Deficiency
Bibliography
476.5 Factor X Deficiency
476.6 Prothrombin (Factor II) Deficiency
Bibliography
476.7 Factor V Deficiency
Bibliography
476.8 Combined Deficiency of Factors V and VIII
476.9 Fibrinogen (Factor I) Deficiency
476.10 Factor XIII Deficiency (Fibrin-Stabilizing Factor or Transglutaminase Deficiency)
Bibliography
476.11 Antiplasmin or Plasminogen Activator Inhibitor Deficiency
Bibliography
Chapter 477: Von Willebrand Disease
Pathophysiology
Classification
Laboratory Diagnosis
Treatment
Bibliography
Chapter 478: Hereditary Predisposition to Thrombosis
Bibliography
Chapter 479: Thrombotic Disorders in Children
Epidemiology
Clinical Manifestations
Extremity Deep Vein Thrombosis
Pulmonary Embolism
Cerebral Sinovenous Thrombosis
Renal Vein Thrombosis
Peripheral Arterial Thrombosis
Stroke
Rapidly Progressive Thrombosis/Thrombotic Storm
Diagnosis
Laboratory Testing
Treatment
Complications
479.1 Anticoagulant and Thrombolytic Therapy
Unfractionated Heparin
Heparin Dosing
Heparin Complications
Low-Molecular-Weight Heparin
Enoxaparin Dosing
Warfarin
Warfarin Dosing
Warfarin Complications
Direct Thrombin or Factor Xa Inhibitors
Thrombolytic Therapy
Dosing
Monitoring
Complications
Thromboprophylaxis
Antiplatelet Therapy
Bibliography
Chapter 480: Postneonatal Vitamin K Deficiency
Bibliography
Chapter 481: Liver Disease
Bibliography
Chapter 482: Acquired Inhibitors of Coagulation
Laboratory Findings
Treatment
Bibliography
Chapter 483: Disseminated Intravascular Coagulation
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
Chapter 484: Platelet and Blood Vessel Disorders
Megakaryopoiesis
Thrombocytopenia
Bibliography
484.1 Idiopathic (Autoimmune) Thrombocytopenic Purpura
Epidemiology
Pathogenesis
Clinical Manifestations
Outcome
Laboratory Findings
Diagnosis/Differential Diagnosis
Treatment
Chronic Autoimmune Thrombocytopenic Purpura
Bibliography
484.2 Drug-Induced Thrombocytopenia
Bibliography
484.3 Nonimmune Platelet Destruction
484.4 Hemolytic-Uremic Syndrome
484.5 Thrombotic Thrombocytopenic Purpura
Bibliography
484.6 Kasabach-Merritt Syndrome
484.7 Sequestration
484.8 Congenital Thrombocytopenic Syndromes
Bibliography
484.9 Neonatal Thrombocytopenia
Bibliography
484.10 Thrombocytopenia from Acquired Disorders Causing Decreased Production
484.11 Platelet Function Disorders
484.12 Acquired Disorders of Platelet Function
484.13 Congenital Abnormalities of Platelet Function
Other Hereditary Disorders of Platelet Function
Treatment of Patients with Platelet Dysfunction
Bibliography
484.14 Disorders of the Blood Vessels
Henoch-Schönlein Purpura
Ehlers-Danlos Syndrome
Other Acquired Disorders
Bibliography
Section 8: The Spleen
Chapter 485: Anatomy and Function of the Spleen
Anatomy
Function
Bibliography
Chapter 486: Splenomegaly
Clinical Manifestations
Differential Diagnosis
Pseudosplenomegaly
Hypersplenism
Congestive Splenomegaly (Banti Syndrome)
Bibliography
Chapter 487: Hyposplenism, Splenic Trauma, and Splenectomy
Hyposplenism
Splenic Trauma
Splenectomy
Bibliography
Section 9: The Lymphatic System
Chapter 488: Anatomy and Function of the Lymphatic System
Bibliography
Chapter 489: Abnormalities of Lymphatic Vessels
Bibliography
Chapter 490: Lymphadenopathy
Diagnosis
Treatment
Bibliography
490.1 Kikuchi-Fujimoto Disease (Histiocytic Necrotizing Lymphadenitis)
Bibliography
490.2 Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease)
Bibliography
490.3 Castleman Disease
Bibliography
Part XXII: Cancer and Benign Tumors
Chapter 491: Epidemiology of Childhood and Adolescent Cancer
Influencing the Incidence of Cancer
Bibliography
Chapter 492: Molecular and Cellular Biology of Cancer
Genes Involved in Oncogenesis
Syndromes Predisposing to Cancer
Other Factors Associated with Oncogenesis
Viruses
Genomic Imprinting
Telomerase
Bibliography
Chapter 493: Principles of Diagnosis
Signs and Symptoms
Physical Examination
Age-Related Manifestations
Early Detection
Ensuring the Diagnosis
Staging
Bibliography
Chapter 494: Principles of Treatment
Diagnosis and Staging
A Multimodal, Multidisciplinary Approach
Discussing the Treatment Plan with the Patient and Family
Treatments
Chemotherapy
Surgery
Radiation Therapy
Acute Toxic Effects and Supportive Care
Late Adverse Effects
Palliative Care
Bibliography
Chapter 495: The Leukemias
495.1 Acute Lymphoblastic Leukemia
Epidemiology
Etiology
Cellular Classification
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Treatment of Relapse
Supportive Care
Prognosis
Bibliography
495.2 Acute Myelogenous Leukemia
Epidemiology
Cellular Classification
Clinical Manifestations
Diagnosis
Prognosis and Treatment
Bibliography
495.3 Down Syndrome and Acute Leukemia and Transient Myeloproliferative Disorder
Bibliography
495.4 Chronic Myelogenous Leukemia
Bibliography
495.5 Juvenile Myelomonocytic Leukemia
Bibliography
495.6 Infant Leukemia
Bibliography
Chapter 496: Lymphoma
496.1 Hodgkin Lymphoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Relapse
Prognosis
Bibliography
496.2 Non-Hodgkin Lymphoma
Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Burkitt Lymphoma and Diffuse Large B-cell Lymphoma
Lymphoblastic Lymphoma
Anaplastic Large Cell Lymphoma
Relapsed Non-Hodgkin Lymphoma
Complications
Prognosis
Bibliography
496.3 Late Effects in Children and Adolescents with Lymphoma
Chapter 497: Brain Tumors in Childhood
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Specific Tumors
Astrocytomas
Ependymal Tumors
Choroid Plexus Tumors
Embryonal Tumors
Pineal Parenchymal Tumors
Craniopharyngioma
Germ Cell Tumors
Tumors of the Brainstem
Metastatic Tumors
Complications and Long-Term Management
Bibliography
Chapter 498: Neuroblastoma
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Bibliography
Chapter 499: Neoplasms of the Kidney
499.1 Wilms Tumor
Epidemiology
Etiology: Genetics and Molecular Biology
Clinical Presentation
Diagnosis and Differential Diagnosis
Treatment
Recurrent Disease
Prognosis
Late Effects
499.2 Other Pediatric Renal Tumors
Mesoblastic Nephroma
Clear Cell Sarcoma of the Kidney
Rhabdoid Tumor of the Kidney
Renal Cell Carcinoma
Bibliography
Chapter 500: Soft Tissue Sarcomas
Rhabdomyosarcoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Other Soft Tissue Sarcomas
Bibliography
Chapter 501: Neoplasms of Bone
501.1 Malignant Tumors of Bone
Osteosarcoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Ewing Sarcoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
501.2 Benign Tumors and Tumor-Like Processes of Bone
Bibliography
Chapter 502: Retinoblastoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 503: Gonadal and Germ Cell Neoplasms
Epidemiology
Pathogenesis
Clinical Manifestations and Diagnosis
Treatment
Prognosis
Bibliography
Chapter 504: Neoplasms of the Liver
Hepatoblastoma
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Hepatocellular Carcinoma
Epidemiology
Pathogenesis
Clinical Manifestations
Treatment
Bibliography
Chapter 505: Benign Vascular Tumors
505.1 Hemangiomas
Clinical Manifestations
Treatment
Bibliography
505.2 Lymphangiomas and Cystic Hygromas
Bibliography
Chapter 506: Rare Tumors
506.1 Thyroid Tumors
Benign Thyroid Tumors
Malignant Thyroid Tumors
Bibliography
506.2 Melanoma
Bibliography
506.3 Nasopharyngeal Carcinoma
Bibliography
506.4 Adenocarcinoma of the Colon and Rectum
Bibliography
506.5 Adrenal Tumors
Bibliography
506.6 Desmoplastic Small Round Cell Tumor
Bibliography
Chapter 507: Histiocytosis Syndromes of Childhood
Classification and Pathology
507.1 Langerhans Cell Histiocytosis
Clinical Manifestations
Treatment and Prognosis
Bibliography
507.2 Hemophagocytic Lymphohistiocytosis
Clinical Manifestations
Treatment and Prognosis
Bibliography
507.3 Other Histiocytoses
Bibliography
Part XXIII: Nephrology
Section 1: Glomerular Disease
Chapter 508: Introduction to Glomerular Diseases
508.1 Anatomy of the Glomerulus
Bibliography
508.2 Glomerular Filtration
Bibliography
508.3 Glomerular Diseases
Pathogenesis
Pathology
Bibliography
Section 2: Conditions Particularly Associated with Hematuria
Chapter 509: Clinical Evaluation of the Child with Hematuria
Bibliography
Chapter 510: Isolated Glomerular Diseases with Recurrent Gross Hematuria
510.1 Immunoglobulin A Nephropathy (Berger Nephropathy)
Pathology and Pathologic Diagnosis
Clinical and Laboratory Manifestations
Prognosis and Treatment
Bibliography
510.2 Alport Syndrome
Genetics
Pathology
Clinical Manifestations
Diagnosis
Prognosis and Treatment
Bibliography
510.3 Thin Basement Membrane Disease
Bibliography
Chapter 511: Glomerulonephritis Associated with Infections
511.1 Acute Poststreptococcal Glomerulonephritis
Etiology and Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Complications
Prevention
Treatment
Prognosis
Bibliography
511.2 Other Chronic Infections
Bibliography
Chapter 512: Membranous Nephropathy
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Prognosis and Treatment
Bibliography
Chapter 513: Membranoproliferative Glomerulonephritis
Pathology
Pathogenesis
Clinical Manifestations
Differential Diagnosis
Prognosis and Treatment
Bibliography
Chapter 514: Glomerulonephritis Associated with Systemic Lupus Erythematosus
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 515: Henoch-Schönlein Purpura Nephritis
Pathogenesis and Pathology
Clinical and Laboratory Manifestations
Prognosis and Treatment
Bibliography
Chapter 516: Rapidly Progressive (Crescentic) Glomerulonephritis
Classification
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Prognosis and Treatment
Bibliography
Chapter 517: Goodpasture Disease
Pathology
Clinical Manifestations
Diagnosis and Differential Diagnosis
Prognosis and Treatment
Bibliography
Chapter 518: Hemolytic-Uremic Syndrome
Etiology
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Prognosis and Treatment
Bibliography
Chapter 519: Upper Urinary Tract Causes of Hematuria
519.1 Interstitial Nephritis
519.2 Toxic Nephropathy
519.3 Cortical Necrosis
519.4 Pyelonephritis
519.5 Nephrocalcinosis
519.6 Vascular Abnormalities
Bibliography
519.7 Renal Vein Thrombosis
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Differential Diagnosis
Treatment
Prognosis
Bibliography
519.8 Idiopathic Hypercalciuria
Diagnosis
Treatment
Bibliography
Chapter 520: Hematologic Diseases Causing Hematuria
520.1 Sickle Cell Nephropathy
Etiology
Pathology
Clinical Manifestations
Treatment
Prognosis
Bibliography
520.2 Coagulopathies and Thrombocytopenia
Chapter 521: Anatomic Abnormalities Associated with Hematuria
521.1 Congenital Anomalies
521.2 Autosomal Recessive Polycystic Kidney Disease
Pathology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
521.3 Autosomal Dominant Polycystic Kidney Disease
Pathology
Pathogenesis
Clinical Presentation
Diagnosis
Treatment and Prognosis
Bibliography
521.4 Trauma
Bibliography
521.5 Renal Tumors
Chapter 522: Lower Urinary Tract Causes of Hematuria
522.1 Infectious Causes of Cystitis and Urethritis
522.2 Hemorrhagic Cystitis
Bibliography
522.3 Vigorous Exercise
Bibliography
Section 3: Conditions Particularly Associated with Proteinuria
Chapter 523: Introduction to the Child with Proteinuria
Normal Physiology
Pathophysiology of Proteinuria
Measurement of Urine Protein
Urine Dipstick Measurement of Protein
Urine Protein-to-Creatinine Ratio Measurement
Clinical Considerations
Bibliography
Chapter 524: Transient Proteinuria
Bibliography
Chapter 525: Orthostatic (Postural) Proteinuria
Bibliography
Chapter 526: Fixed Proteinuria
526.1 Glomerular Proteinuria
Bibliography
526.2 Tubular Proteinuria
Bibliography
Chapter 527: Nephrotic Syndrome
Etiology
Pathogenesis
Role of the Podocyte
Role of the Immune System
Clinical Consequences of Nephrotic Syndrome
Edema
Hyperlipidemia
Increased Susceptibility to Infections
Hypercoagulability
Bibliography
527.1 Idiopathic Nephrotic Syndrome
Pathology
Minimal Change Nephrotic Syndrome
Clinical Manifestations
Diagnosis
Recommendations for the Initial Evaluation of Children with Nephrotic Syndrome
Confirming the Diagnosis of Nephrotic Syndrome.
Treatment
Use of Corticosteroids to Treat Minimal Change Nephrotic Syndrome
Treatment of Initial Episode of Nephrotic Syndrome
Managing the Clinical Sequelae of Nephrotic Syndrome
Edema.
Dyslipidemia.
Infections.
Thromboembolism.
Obesity and Growth.
Relapse of Nephrotic Syndrome.
Steroid Resistance.
Implications of Steroid-Resistant Nephrotic Syndrome.
Alternative Therapies to Corticosteroids in the Treatment of Nephrotic Syndrome.
Immunizations in Children with Nephrotic Syndrome.
Prognosis
Bibliography
527.2 Secondary Nephrotic Syndrome
Bibliography
527.3 Congenital Nephrotic Syndrome
Bibliography
Section 4: Tubular Disorders
Chapter 528: Tubular Function
Sodium
Potassium
Calcium
Phosphate
Magnesium
Acidification and Concentrating Mechanisms
Developmental Considerations
Bibliography
Chapter 529: Renal Tubular Acidosis
Normal Urinary Acidification
529.1 Proximal (Type II) Renal Tubular Acidosis
Pathogenesis
Autosomal Recessive Disease
Cystinosis
Lowe Syndrome
Clinical Manifestations of Proximal Renal Tubular Acidosis and Fanconi Syndrome
529.2 Distal (Type I) Renal Tubular Acidosis
Pathogenesis
Clinical Manifestations
529.3 Hyperkalemic (Type IV) Renal Tubular Acidosis
Pathogenesis
Clinical Manifestations
Diagnostic Approach to Renal Tubular Acidosis
Treatment and Prognosis
Bibliography
529.4 Rickets Associated with Renal Tubular Acidosis
Chapter 530: Nephrogenic Diabetes Insipidus
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment and Prognosis
Bibliography
Chapter 531: Bartter and Gitelman Syndromes and Other Inherited Tubular Transport Abnormalities
531.1 Bartter Syndrome
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment and Prognosis
531.2 Gitelman Syndrome
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
531.3 Other Inherited Tubular Transport Abnormalities
Bibliography
Chapter 532: Tubulointerstitial Nephritis
Acute Tubulointerstitial Nephritis
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Treatment and Prognosis
Chronic Tubulointerstitial Nephritis
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Treatment and Prognosis
Bibliography
Section 5: Acute Kidney Injury and Chronic Kidney Disease
Chapter 533: Toxic Nephropathy
Bibliography
Chapter 534: Cortical Necrosis
Etiology
Clinical Manifestations
Laboratory and Radiologic Findings
Treatment
Prognosis
Bibliography
Chapter 535: Renal Failure
535.1 Acute Kidney Injury
Pathogenesis
Clinical Manifestations and Diagnosis
Laboratory Findings
Treatment
Medical Management
Dialysis
Prognosis
Bibliography
535.2 Chronic Kidney Disease
Etiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
Nutrition
Renal Osteodystrophy
Adynamic Bone Disease
Fluid and Electrolyte Management
Acidosis
Growth
Anemia
Hypertension
Immunizations
Adjustment In Drug Dose
Progression of Disease
Bibliography
535.3 End-Stage Renal Disease
Bibliography
Chapter 536: Renal Transplantation
Incidence and Etiology
Indications
Characteristics of Donors and Recipients
Evaluation and Preparing for Transplantation
Immunosuppression
Induction Therapy
T-Cell Antibodies
Interleukin-2 Receptor Antibodies
Other Induction Therapies
Maintenance Immunosuppression
Calcineurin Inhibitors
Mycophenolate Mofetil
Sirolimus
Corticosteroids
Fluid Management in Infants and Small Children
Renal Biopsy
Rejection
Graft Survival
Complications with Immunosuppression Infections
Long-Term Outcome
Bibliography
Part XXIV: Urologic Disorders inInfants and Children
Chapter 537: Congenital Anomalies and Dysgenesis of the Kidneys
Embryonic Development
Renal Agenesis
Renal Dysgenesis: Dysplasia, Hypoplasia, and Cystic Anomalies
Anomalies in Shape and Position
Associated Physical Findings
Bibliography
Chapter 538: Urinary Tract Infections
Prevalence and Etiology
Clinical Manifestations and Classification
Clinical Pyelonephritis
Cystitis
Asymptomatic Bacteriuria
Pathogenesis and Pathology
Diagnosis
Treatment
Imaging Studies in Children with a Febrile UTI
Prophylaxis of Recurrent Urinary Tract Infection
Bibliography
Chapter 539: Vesicoureteral Reflux
Classification
Clinical Manifestations
Diagnosis
Natural History
Treatment
Observation
Antimicrobial Prophylaxis
Surgery
Current Vesicoureteral Reflux Guidelines
Bibliography
Chapter 540: Obstruction of the Urinary Tract
Etiology
Clinical Manifestations
Diagnosis
Imaging Studies
Renal Ultrasonography
Voiding Cystourethrogram
Radioisotope Studies
Excretory Urogram
Magnetic Resonance Urography
Computed Tomography
Ancillary Studies
Specific Types of Urinary Tract Obstruction and Their Treatment
Hydrocalycosis
Ureteropelvic Junction Obstruction
Midureteral Obstruction
Ectopic Ureter
Ureterocele
Megaureter
Prune-Belly Syndrome
Bladder Neck Obstruction
Posterior Urethral Valves
Urethral Atresia
Urethral Hypoplasia
Urethral Strictures
Anterior Urethral Valves and Urethral Diverticula in the Male
Male Urethral Meatal Stenosis
Bibliography
Chapter 541: Anomalies of the Bladder
Bladder Exstrophy
Clinical Manifestations
Treatment
Long-Term Prognosis
Other Exstrophy Anomalies
Bladder Diverticula
Urachal Anomalies
Bibliography
Chapter 542: Neuropathic Bladder
Neural Tube Defects
Clinical Manifestations and Diagnosis
Renal Damage
Urinary Incontinence
Complications of Augmentation Cystoplasty
Urinary Tract Infection
Metabolic Acidosis
Spontaneous Perforation
Bladder Calculi
Malignant Neoplasm
Future Management
Associated Disorders
Constipation
Latex Allergy
Occult Spinal Dysraphism
Sacral Agenesis
Imperforate Anus
Cerebral Palsy
Bibliography
Chapter 543: Enuresis and Voiding Dysfunction
Normal Voiding and Toilet Training
Diurnal Incontinence
Overactive Bladder (Diurnal Urge Syndrome)
Nonneurogenic Neurogenic Bladder (Hinman Syndrome)
Infrequent Voiding (Underactive Bladder)
Vaginal Voiding
Other Causes of Incontinence in Girls
Voiding Disorders without Incontinence
Nocturnal Enuresis
Epidemiology
Pathogenesis
Clinical Manifestations and Diagnosis
Treatment
Bibliography
Chapter 544: Anomalies of the Penis and Urethra
Hypospadias
Clinical Manifestations
Treatment
Chordee Without Hypospadias
Phimosis and Paraphimosis
Circumcision
Penile Torsion
Inconspicuous Penis
Micropenis
Priapism
Other Penile Anomalies
Meatal Stenosis
Other Male Urethral Anomalies
Urethral Prolapse (Female)
Other Female Urethral Lesions
Bibliography
Chapter 545: Disorders and Anomalies of the Scrotal Contents
Undescended Testis (Cryptorchidism)
Epidemiology
Pathogenesis
Clinical Manifestations
Treatment
Scrotal Swelling
Clinical Manifestations
Laboratory Findings and Diagnosis
Testicular (Spermatic Cord) Torsion
Etiology
Diagnosis
Treatment
Torsion of the Appendix Testis
Epididymitis
Varicocele
Spermatocele
Hydrocele
Etiology
Diagnosis
Treatment
Inguinal Hernia
Testicular Tumor
Bibliography
Chapter 546: Trauma to the Genitourinary Tract
Etiology
Diagnosis
Treatment
Bibliography
Chapter 547: Urinary Lithiasis
Stone Formation
Clinical Manifestations
Diagnosis
Metabolic Evaluation
Pathogenesis of Specific Renal Calculi
Calcium Oxalate and Calcium Phosphate Calculi
Cystine Calculi
Struvite Calculi
Uric Acid Calculi
Indinavir Calculi
Nephrocalcinosis
Treatment
Bibliography
Part XXV: Gynecologic Problemsof Childhood
Chapter 548: History and Physical Examination
History
Gynecologic Examination
Neonates
Infants and Prepubertal Girls
Indications for Genital Examination
Preparation
Positioning
Documentation
Adolescents
Pelvic Examination
Bibliography
Chapter 549: Vulvovaginitis
Etiology
Epidemiology
Clinical Manifestations
Diaper Dermatitis
Physiologic Leukorrhea
Genital Ulcers
Dermatoses
Diagnosis and Differential Diagnosis
Treatment and Prevention
Bibliography
Chapter 550: Bleeding
Bibliography
Chapter 551: Breast Concerns
Breast Development
Breast Examination
Breast Self-Examination
Abnormal Development
Neonatal Breast Abnormalities
Precocious Puberty
Amastia
Polymastia and Polythelia
Breast Asymmetry and Hypomastia
Juvenile or Virginal Hypertrophy
Infections
Trauma and Inflammation
Nipple Discharge
Galactorrhea
Bloody Discharge
Mastalgia
Breast Masses
Peripubertal Masses
Common Adolescent Breast Masses
Malignant Masses
Imaging of Breast Masses
Recommendations for Daughters of Women with Breast Cancer
Risk Reduction
Screening Procedures
Genetic Testing in Children
Cosmetic Surgery
Bibliography
Chapter 552: Polycystic Ovary Syndrome and Hirsutism
Polycystic Ovary Syndrome
Etiology and Definition
Pathology Pathogenesis and Genetics
Clinical Manifestations
Laboratory Findings, Diagnosis, and Differential Diagnosis
Complications and Long-Term Outlook
Treatment
Lifestyle Changes
Hormonal Contraceptives
Metformin
Antiandrogens
Hirsutism
Bibliography
Chapter 553: Neoplasms and Adolescent Screening for Human Papillomavirus
Gynecologic Malignancies
Impact of Cancer Therapy on Fertility
Ovaries
Neonatal and Pediatric Ovarian Cysts
Functional Cysts
Teratomas
Cystadenomas
Endometriomas
Pelvic Inflammatory Disease and Tuboovarian Abscess
Adnexal Torsion
Ovarian Carcinoma
Uterus
Vagina
Vulva
Cervix
Bibliography
Chapter 554: Vulvovaginal and Müllerian Anomalies
Embryology
Epidemiology
Clinical Manifestations
Laboratory Findings
Uterine Anomalies
Septate Uterus
Bicornuate Uterus
Unicornuate Uterus and Rudimentary Horns
Uterine Didelphys
Arcuate Uterus
Uterine Anomalies in Diethylstilbestrol-Exposed Patients
Treatment
Vaginal Anomalies
Abnormalities of the Hymen
Congenital Absence of the Vagina and Mayer-Rokitansky-Küster-Hauser Syndrome
Longitudinal Vaginal Septa
Transverse Vaginal Septa (Vertical Fusion Defects)
Treatment
Cervical Anomalies
Vulvar and Other Anomalies
Complete Vulvar Duplication
Labial Asymmetry and Hypertrophy
Clitoral Abnormalities
Cloacal Anomalies
Ductal Remnants
Bibliography
Chapter 555: Gynecologic Care for Girls with Special Needs
Sexuality and Sexual Education
Abuse
Pelvic Examination
Menstruation
Treatment of Menstruation
Nonhormonal Methods
Estrogen-Containing Methods
Oral Contraceptives
Contraceptive Ring
Contraceptive Patch
Estrogen Use, Venous Thromboembolism and Mobility Issues
Progestin-Only Methods
Intramuscular Medroxyprogesterone Acetate
Oral Progestins
Progesterone Intrauterine Device
Implants
Hormones and Antiepileptic Drugs
Surgical Methods
Contraception
Bibliography
555.1 Female Genital Mutilation/Cutting
Classifications
Management
Bibliography
Part XXVI: The Endocrine System
Section 1: Disorders of the Hypothalamus and Pituitary Gland
Chapter 556: Hormones of the Hypothalamus and Pituitary
Anatomy
Embryology
Vascular Supply
Anterior Pituitary Cell Types
Growth Hormone
Prolactin
Thyroid-Stimulating Hormone
Adrenocorticotropic Hormone
Luteinizing Hormone and Follicle-Stimulating Hormone
Posterior Pituitary Cell Types
Antidiuretic Hormone
Oxytocin
Bibliography
Chapter 557: Hypopituitarism
Multiple Pituitary Hormone Deficiency
Genetic Forms
PROP1
POU1F1 (PIT1)
HESX1
LHX3 and LHX4
Other Congenital Forms
Acquired Forms
Isolated Growth Hormone Deficiency and Insensitivity
Genetic Forms of Growth Hormone Deficiency
Growth Hormone–Releasing Hormone Receptor
GH1
X-Linked Isolated Growth Hormone Deficiency
Acquired Forms
Growth Hormone Insensitivity
Abnormalities of the Growth Hormone Receptor
Postreceptor Forms of Growth Hormone Insensitivity
IGF-1 Gene Abnormalities
Insulin-Like Growth Factor–Binding Protein Abnormalities
IGF-1 Receptor Gene Abnormalities
Clinical Manifestations
Congenital Hypopituitarism
Acquired Hypopituitarism
Laboratory Findings
Radiologic Findings
Differential Diagnosis
Constitutional Growth Delay
Primary Hypothyroidism
Psychosocial Causes
Treatment
Complications and Adverse Effects of GH Treatment
Bibliography
Chapter 558: Diabetes Insipidus
Physiology of Water Balance
Approach to the Patient with Polyuria, Polydipsia, and Hypernatremia
Causes of Hypernatremia
Central Diabetes Insipidus
Nephrogenic Diabetes Insipidus
Treatment of Central Diabetes Insipidus
Fluid Therapy
Vasopressin Analogs
Aqueous Vasopressin
Treatment of Nephrogenic Diabetes Insipidus
Bibliography
Chapter 559: Other Abnormalities of Arginine Vasopressin Metabolism and Action
Causes of Hyponatremia
Syndrome of Inappropriate Antidiuretic Hormone Secretion
Nephrogenic Syndrome of Inappropriate Antidiuresis
Systemic Dehydration
Primary Salt Loss
Decreased Effective Plasma Volume
Primary Polydipsia (Increased Water Ingestion)
Decreased Free Water Clearance
Cerebral Salt Wasting
Runners’ Hyponatremia
Pseudohyponatremia and Other Causes of Hyponatremia
Treatment
Emergency Treatment of Hyponatremia
Treatment of Syndrome of Inappropriate Antidiuretic Hormone
Treatment of Cerebral Salt Wasting
Bibliography
Chapter 560: Hyperpituitarism, Tall Stature, and Overgrowth Syndromes
Hyperpituitarism
Tall Stature
Differential Diagnosis of Tall Stature
Overgrowth in the Fetus and Neonate
Overgrowth in Childhood or Adolescence
Sotos Syndrome (Cerebral Gigantism)
Treatment of Normal Variant Tall Stature
Excess Growth Hormone Secretion and Pituitary Gigantism
Diagnosis
Treatment
Hypersecretion of Other Pituitary Hormones
Prolactinoma
Corticotropinoma
Bibliography
Chapter 561: Physiology of Puberty
Bibliography
Chapter 562: Disorders of Pubertal Development
562.1 Central Precocious Puberty
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
562.2 Precocious Puberty Resulting from Organic Brain Lesions
Etiology
Clinical Manifestations
Treatment
562.3 Precocious Puberty Following Irradiation of the Brain
Treatment
562.4 Syndrome of Precocious Puberty and Hypothyroidism
562.5 Chorionic Gonadotropin-Secreting Tumors
Hepatic Tumors
Intracranial Tumors
Tumors in Other Locations
Peripheral Precocious Puberty
562.6 McCune-Albright Syndrome (Precocious Puberty with Polyostotic Fibrous Dysplasia and Abnormal Pigmentation)
Extragonadal Manifestations
562.7 Familial Male Gonadotropin-Independent Precocious Puberty
Treatment
562.8 Incomplete (Partial) Precocious Development
Premature Thelarche
Premature Pubarche (Adrenarche)
Premature Menarche
562.9 Medicational Precocity
Bibliography
Section 2: Disorders of the Thyroid Gland
Chapter 563: Thyroid Development and Physiology
Fetal Development
Thyroid Physiology
Thyroid Regulation
Bibliography
563.1 Thyroid Hormone Studies
Serum Thyroid Hormones
Fetal and Newborn Thyroid
Serum Thyroxine-Binding Globulin
In Vivo Radionuclide Studies
Thyroid Ultrasonographic Studies
Bibliography
Chapter 564: Defects of Thyroxine-Binding Globulin
Bibliography
Chapter 565: Hypothyroidism
Congenital Hypothyroidism
Epidemiology
Etiology
Primary Hypothyroidism
Thyroid Dysgenesis.
Defective Synthesis of Thyroxine (Dyshormonogenesis).
Defect of Iodide Transport.
Thyroid Peroxidase Defects of Organification and Coupling.
Defects of Thyroglobulin Synthesis.
Defects in Deiodination.
Thyrotropin Hormone Unresponsiveness.
Defects in Thyroid Hormone Transport.
Resistance to Thyroid Hormone
Thyrotropin Receptor-Blocking Antibody.
Radioiodine Administration.
Iodine Exposure.
Iodine-Deficiency Endemic Goiter.
Central (Hypopituitary) Hypothyroidism
Thyrotropin and Thyrotropin-Releasing Hormone Deficiency.
Thyrotropin-Releasing Hormone Receptor Abnormality.
Thyroid Function in Preterm Babies
Clinical Manifestations
Laboratory Findings
Treatment
Prognosis
Acquired Hypothyroidism
Epidemiology
Etiology
Clinical Manifestations
Diagnostic Studies
Treatment and Prognosis
Bibliography
Congenital Hypothyroidism
Acquired Hypothyroidism
Chapter 566: Thyroiditis
Chronic Lymphocytic Thyroiditis (Hashimoto Thyroiditis, Autoimmune Thyroiditis)
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Other Causes of Thyroiditis
Bibliography
Chapter 567: Goiter
567.1 Congenital Goiter
Bibliography
567.2 Intratracheal Goiter
567.3 Endemic Goiter and Cretinism
Etiology
Clinical Manifestations
Pathogenesis
Treatment
Bibliography
567.4 Acquired Goiter
Iodide Goiter
Simple Goiter (Colloid Goiter)
Multinodular Goiter
Toxic Goiter (Hyperthyroidism)
Bibliography
Chapter 568: Hyperthyroidism
568.1 Graves Disease
Epidemiology
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
568.2 Congenital Hyperthyroidism
Etiology and Pathogenesis
Clinical Manifestations
Treatment
Prognosis
Bibliography
Chapter 569: Carcinoma of the Thyroid
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
569.1 Solitary Thyroid Nodule
Bibliography
569.2 Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia, Type 2A
Multiple Endocrine Neoplasia, Type 2B
Treatment
Bibliography
Section 3: Disorders of the Parathyroid Gland
Chapter 570: Hormones and Peptides of Calcium Homeostasis and Bone Metabolism
Parathyroid Hormone
Parathyroid Hormone–Related Peptide
Vitamin D
Calcitonin
Bibliography
Chapter 571: Hypoparathyroidism
Etiology
Aplasia or Hypoplasia of the Parathyroid Glands
X-Linked Recessive Hypoparathyroidism
Autosomal Recessive Hypoparathyroidism with Dysmorphic Features
Hypoparathyroidism, Sensorineural Deafness, and Renal Anomaly Syndrome
Suppression of Neonatal Parathyroid Hormone Secretion Because of Maternal Hyperparathyroidism
Autosomal Dominant Hypoparathyroidism
Hypoparathyroidism Associated with Mitochondrial Disorders
Surgical Hypoparathyroidism
Autoimmune Hypoparathyroidism
Idiopathic Hypoparathyroidism
Clinical Manifestations
Laboratory Findings
Treatment
Differential Diagnosis
Bibliography
Chapter 572: Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy)
Type Ia
Type Ia with Precocious Puberty
Type Ib
Acrodysostosis with Hormone Resistance
Bibliography
Chapter 573: Hyperparathyroidism
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Prognosis
573.1 Other Causes of Hypercalcemia
Familial Hypocalciuric Hypercalcemia (Familial Benign Hypercalcemia)
Granulomatous Diseases
Hypercalcemia of Malignancy
Miscellaneous Causes of Hypercalcemia
Bibliography
Section 4: Disorders of the Adrenal Gland
Chapter 574: Physiology of the Adrenal Gland
574.1 Histology and Embryology
Bibliography
574.2 Adrenal Steroid Biosynthesis
Zona Glomerulosa
Zona Fasciculata
Zona Reticularis
Fetoplacental Unit
Bibliography
574.3 Regulation of the Adrenal Cortex
Regulation of Cortisol Secretion
Regulation of Aldosterone Secretion
Regulation of Adrenal Androgen Secretion
Bibliography
574.4 Adrenal Steroid Hormone Actions
Actions of Glucocorticoids
Metabolic Effects
Circulatory and Renal Effects
Growth
Immunologic Effects
Effects on Skin, Bone, and Calcium
Central Nervous System Effects
Actions of Mineralocorticoids
Actions of the Adrenal Androgens
Synthetic Corticosteroids
Bibliography
574.5 Adrenal Medulla
Bibliography
Chapter 575: Adrenocortical Insufficiency
575.1 Primary Adrenal Insufficiency
Inherited Etiologies
Inborn Defects of Steroidogenesis
Adrenal Hypoplasia Congenita
Other Genetic Causes of Adrenal Hypoplasia
Adrenoleukodystrophy
Familial Glucocorticoid Deficiency
Type I Autoimmune Polyendocrinopathy
Disorders of Cholesterol Synthesis and Metabolism
Corticosteroid-Binding Globulin Deficiency and Decreased Cortisol-Binding Affinity
Acquired Etiologies
Autoimmune Addison Disease
Infection
Drugs
Hemorrhage into Adrenal Glands
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
575.2 Secondary and Tertiary Adrenal Insufficiency
Etiology
Abrupt Cessation of Administration of Corticosteroids
Corticotropin (Adrenocorticotropic Hormone) Deficiency
Clinical Presentation
Laboratory Findings
Treatment
Bibliography
575.3 Adrenal Insufficiency in the Critical Care Setting
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
575.4 Altered End-Organ Sensitivity to Corticosteroids
Generalized Glucocorticoid Resistance
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Cortisone Reductase Deficiency
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Altered End-Organ Sensitivity to Mineralocorticoids
Pseudohypoaldosteronism
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Apparent Mineralocorticoid Excess
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Liddle Syndrome
Etiology
Clinical Manifestations, Laboratory Findings, and Differential Diagnosis
Treatment
Bibliography
Generalized Glucocorticoid Resistance
Cortisone Reductase Deficiency
Altered End-Organ Sensitivity to Mineralocorticoids
Apparent Mineralocorticoid Excess
Liddle Syndrome
Chapter 576: Congenital Adrenal Hyperplasia and Related Disorders
576.1 Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency
Etiology
Epidemiology
Genetics
Pathogenesis and Clinical Manifestations
Aldosterone and Cortisol Deficiency
Prenatal Androgen Excess
Postnatal Androgen Excess
Adrenomedullary Dysfunction
Laboratory Findings
Differential Diagnosis
Prenatal Diagnosis
Newborn Screening
Treatment
Glucocorticoid Replacement
Mineralocorticoid Replacement
Surgical Management of Ambiguous Genitals
Prenatal Treatment
Bibliography
576.2 Congenital Adrenal Hyperplasia Caused by 11β-Hydroxylase Deficiency
Etiology
Epidemiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
576.3 Congenital Adrenal Hyperplasia Caused by 3β-Hydroxysteroid Dehydrogenase Deficiency
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
576.4 Congenital Adrenal Hyperplasia Caused by 17-Hydroxylase Deficiency
Etiology
Clinical Manifestations and Laboratory Findings
Treatment
Bibliography
576.5 Lipoid Adrenal Hyperplasia
Etiology
Clinical Manifestations
Laboratory Findings
Treatment
Bibliography
576.6 Deficiency of P450 Oxidoreductase (Antley-Bixler Syndrome)
Etiology, Pathogenesis, and Clinical Manifestations
Epidemiology
Laboratory Findings
Differential Diagnosis
Bibliography
576.7 Aldosterone Synthase Deficiency
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
576.8 Glucocorticoid-Suppressible Hyperaldosteronism
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Genetic Counseling
Bibliography
Chapter 577: Cushing Syndrome
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
Chapter 578: Primary Aldosteronism
Etiology
Epidemiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
Chapter 579: Adrenocortical Tumors
Epidemiology
Etiology
579.1 Virilizing and Feminizing Adrenal Tumors
Clinical Manifestations
Laboratory Findings
Pathologic Findings
Differential Diagnosis
Treatment
Bibliography
Chapter 580: Pheochromocytoma
Etiology
Clinical Manifestations
Laboratory Findings
Differential Diagnosis
Treatment
Bibliography
Chapter 581: Adrenal Masses
581.1 Adrenal Incidentaloma
581.2 Adrenal Calcification
Bibliography
Section 5: Disorders of the Gonads
Chapter 582: Development and Function of the Gonads
Genetic Control of Embryonic Gonadal Differentiation
Function of the Testes
Function of the Ovaries
Diagnostic Testing
Therapeutic Use of Sex Steroids
Bibliography
Chapter 583: Hypofunction of the Testes
583.1 Hypergonadotropic Hypogonadism in the Male (Primary Hypogonadism)
Etiology
Congenital Anorchia or Testicular Regression Syndrome
Chemotherapy and Radiation-Induced Hypogonadism
Sertoli Cell–Only Syndrome
Other Causes of Testicular Hypofunction
Testicular Dysgenesis Syndrome
Clinical Manifestations
Diagnosis
Noonan Syndrome
Etiology
Clinical Manifestations
Treatment
Klinefelter Syndrome
Etiology
Clinical Manifestations
Klinefelter Variants and Other Poly-X Syndromes
Laboratory Findings
Management
XX Males
45,X Males
47,XXX Males
Bibliography
583.2 Hypogonadotropic Hypogonadism in the Male (Secondary Hypogonadism)
Etiology
Isolated Gonadotropin Deficiency
Hypogonadotropic Hypogonadism Without Anosmia
Other Disorders with Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism Associated with Other Pituitary Hormone Deficiencies
Diagnosis
Treatment
Bibliography
Chapter 584: Pseudoprecocity Resulting from Tumors of the Testes
Bibliography
Chapter 585: Gynecomastia
Physiologic Forms of Gynecomastia
Neonatal Gynecomastia
Pubertal Gynecomastia
Pathologic Gynecomastia
Evaluation of Gynecomastia
Treatment
Bibliography
Chapter 586: Hypofunction of the Ovaries
586.1 Hypergonadotropic Hypogonadism in the Female (Primary Hypogonadism)
Turner Syndrome
Pathogenesis
Clinical Manifestations
Laboratory Findings
Treatment
XX Gonadal Dysgenesis
45,X/46,XY Gonadal Dysgenesis
XXX, XXXX, and XXXXX Females
XXX Females
XXXX and XXXXX Females
Noonan Syndrome
Other Ovarian Defects
Bibliography
586.2 Hypogonadotropic Hypogonadism in the Female (Secondary Hypogonadism)
Etiology
Hypopituitarism
Isolated Deficiency of Gonadotropins
Diagnosis
Bibliography
Chapter 587: Pseudoprecocity Resulting from Lesions of the Ovary
Estrogenic Lesions of the Ovary
Juvenile Granulosa Cell Tumor
Clinical Manifestations and Diagnosis
Treatment and Prognosis
Follicular Cyst
Androgenic Lesions of the Ovary
Bibliography
Chapter 588: Disorders of Sex Development
Sex Differentiation
Diagnostic Approach to the Patient with Atypical or Ambiguous Genitalia
588.1 46,XX DSD
Congenital Adrenal Hyperplasia
Aromatase Deficiency
Glucocorticoid Receptor Gene Mutation
Virilizing Maternal Tumors
Administration of Androgenic Drugs to Women during Pregnancy
Bibliography
588.2 46,XY DSD
Defects in Testicular Differentiation
Denys-Drash Syndrome
WAGR Syndrome
Campomelic Syndrome
XY Pure Gonadal Dysgenesis (Swyer Syndrome)
XY Gonadal Agenesis Syndrome (Embryonic Testicular Regression Syndrome)
Defects in Testicular Hormones
Leydig Cell Aplasia
Lipoid Adrenal Hyperplasia
3β-Hydroxysteroid Dehydrogenase Deficiency
Deficiency of 17-Hydroxylase/17,20-Lyase
Deficiency of 17-Ketosteroid Reductase
Persistent Müllerian Duct Syndrome
Defects in Androgen Action
Dihydrotestosterone Deficiency
Androgen Insensitivity Syndromes
Clinical Manifestations
Diagnosis
Treatment and Prognosis
Undetermined Causes
Bibliography
588.3 Ovotesticular DSD
Diagnosis and Management of Disorders of Sex Development
Bibliography
Section 6: Diabetes Mellitus in Children
Chapter 589: Diabetes Mellitus
589.1 Classification
Type 1 Diabetes Mellitus
Type 2 Diabetes Mellitus
Other Specific Types of Secondary Diabetes
Impaired Glucose Tolerance
589.2 Type 1 Diabetes Mellitus (Immune Mediated)
Epidemiology
Genetics
Monogenic Type 1 Diabetes Mellitus
Genes Altering the Risk of Autoimmune Type 1 Diabetes Mellitus
Major Histocompatibility Complex/Human Leukocyte Antigen Encoded Susceptibility to Type 1 Diabetes Mellitus
Role of Aspartate at Position 57 in DQB1
Role of Human Leukocyte Antigen Class I
Insulin Gene Locus, IDDM2
PTPN22 (Lymphoid Tyrosine Phosphatase)
Cytotoxic T Lymphocyte Antigen 4
Interleukin-2 Receptor
Interleukin-1 Receptor
Interferon-Induced Helicase
CYP27B1
Environmental Factors
Viral Infections
Congenital Rubella Syndrome
Enteroviruses
Mumps Virus
The Hygiene Hypothesis: Possible Protective Role of Infections
Diet
Psychologic Stress
Pathogenesis and Natural History of Type 1 Diabetes Mellitus
Initiation of Autoimmunity
Preclinical Autoimmunity with Progressive Loss of β-Cell Function
Role of Autoantibodies
Role of Genetics in Disease Progression
Role of Environmental Factors
Onset of Clinical Disease
Prediction and Prevention
Primary Prevention of Type 1 Diabetes Mellitus
Secondary Prevention
Pathophysiology
Clinical Manifestations
Diagnosis
Diabetic Ketoacidosis
Treatment
New-Onset Diabetes Without Ketoacidosis
Insulin Therapy
Insulin Pump Therapy
Continuous Glucose Monitoring Systems
Amylin-Based Adjunct Therapy
Basic and Advanced Diabetes Education
Ketoacidosis
Hyperglycemia and Dehydration
Catabolic Losses
Keto Acid Accumulation
Diabetic Ketoacidosis Protocol
Cerebral Edema
Nonketotic Hyperosmolar Coma
Nutritional Management
Monitoring
Real-Time Continuous Glucose Monitoring
Glycosylated Hemoglobin
Exercise
Benefits of Improved Glycemic Control
Current Intensive Insulin Replacement Regimens
Hypoglycemic Reactions
Dawn Phenomenon and Somogyi Phenomenon
Behavioral/Psychologic Aspects and Eating Disorders
Cognitive Function
Coping Styles
Nonadherence
Anxiety and Depression
Fear of Self-Injecting and Self-Testing
Eating Disorders
Management During Infections
Management During Surgery
Long-Term Complications: Relation to Glycemic Control
Diabetic Neuropathy
Prognosis
Pancreas and Islet Transplantation and Regeneration
589.3 Type 2 Diabetes Mellitus
Natural History
Epidemiology
Genetics
Epigenetics and Fetal Programming
Environmental and Lifestyle-Related Risk Factors
Clinical Features
Treatment
Complications
Prevention
589.4 Other Specific Types of Diabetes
Genetic Defects of β-Cell Function
Maturity-Onset Diabetes of Youth
MODY2
MODY3
Mitochondrial Gene Defects
Maternally Inherited Diabetes and Deafness.
Diabetes Mellitus of the Newborn
Transient Neonatal Diabetes Mellitus
Permanent Neonatal Diabetes Mellitus
IPEX Syndrome
Abnormalities of the Insulin Gene
Genetic Defects of Insulin Action
Donohue Syndrome
Rabson-Mendenhall Syndrome
Lipoatrophic Diabetes
Stiff-Person Syndrome
Systemic Lupus Erythematosus
Cystic Fibrosis–Related Diabetes
Autoimmune Diseases
Endocrinopathies
Drugs
Genetic Syndromes Associated with Diabetes Mellitus
Bibliography
Epidemiology, Etiology, Genetics, Pathology, Classification, and Prevention
Genetics
Diabetic Ketoacidosis
Management of Type 1 Diabetes in Children
Long-Term Outcome of Childhood Diabetes: Relation of Control to Development of Complications
Type 2 Diabetes and Diseases and Syndromes Associated with Diabetes
Diabetes of the Newborn
Hypoglycemia and Diabetes
Pancreas and Islet Transplantation
Part XXVII: The Nervous System
Chapter 590: Neurologic Evaluation
History
Neurologic Examination
Mental Status
Head
Cranial Nerves
Olfactory Nerve (Cranial Nerve I)
Optic Nerve (Cranial Nerve II)
Vision
Oculomotor (Cranial Nerve III), Trochlear (Cranial Nerve IV), and Abducens Nerves (Cranial Nerve VI)
Trigeminal Nerve (Cranial Nerve V)
Facial Nerve (Cranial Nerve VII)
Vestibulocochlear Nerve (Cranial Nerve VIII)
Glossopharyngeal Nerve (Cranial Nerve IX)
Vagus Nerve (Cranial Nerve X)
Accessory Nerve (Cranial Nerve XI)
Hypoglossal Nerve (Cranial Nerve XII)
Motor Examination
Bulk
Tone
Strength
Involuntary Movements
Sensory Examination
Reflexes
Deep Tendon Reflexes and the Plantar Response
Primitive Reflexes
Coordination
Station and Gait
General Examination
Special Diagnostic Procedures
Lumbar Puncture and Cerebrospinal Fluid Examination
Neuroradiologic Procedures
Electroencephalography
Evoked Potentials
Bibliography
Chapter 591: Congenital Anomalies of the Central Nervous System
591.1 Neural Tube Defects
591.2 Spina Bifida Occulta (Occult Spinal Dysraphism)
591.3 Meningocele
591.4 Myelomeningocele
Etiology
Prevention
Clinical Manifestations
Treatment
Prognosis
Bibliography
591.5 Encephalocele
Bibliography
591.6 Anencephaly
591.7 Disorders of Neuronal Migration
Lissencephaly
Schizencephaly
Neuronal Heterotopias
Polymicrogyrias
Focal Cortical Dysplasias
Porencephaly
Bibliography
591.8 Agenesis of the Corpus Callosum
Holoprosencephaly
Bibliography
591.9 Agenesis of the Cranial Nerves and Dysgenesis of the Posterior Fossa
Congenital Cranial Dysinnervation Disorders
Brainstem and Cerebellar Disorders
Bibliography
591.10 Microcephaly
Etiology
Clinical Manifestations and Diagnosis
Treatment
Bibliography
591.11 Hydrocephalus
Physiology
Pathophysiology and Etiology
Clinical Manifestations
Diagnosis and Differential Diagnosis
Megalencephaly
Hydranencephaly
Treatment
Prognosis
Bibliography
591.12 Craniosynostosis
Development and Etiology
Clinical Manifestations and Treatment
Bibliography
Bibliography
Chapter 592: Deformational Plagiocephaly
Epidemiology and Etiology
Incidence
Risk Factors
Causes
Examination and Differentiating between Deformational Plagiocephaly and Craniosynostosis
History and Physical Exam
Treatment
Prevention
Treatment Options
Outcomes
Bibliography
Chapter 593: Seizures in Childhood
Evaluation of the First Seizure
593.1 Febrile Seizures
Genetic Factors
Evaluation
Lumbar Puncture
Electroencephalogram
Blood Studies
Neuroimaging
Treatment
Bibliography
593.2 Unprovoked Seizures
History and Examination
Differential Diagnosis
Long-Term Approach to the Patient and Additional Testing
Bibliography
593.3 Partial Seizures and Related Epilepsy Syndromes
Focal Seizures without Impairment of Consciousness
Focal Seizures with Impairment of Consciousness
Secondary Generalized Seizures
Benign Epilepsy Syndromes with Focal Seizures
Severe Epilepsy Syndromes with Focal Seizures
593.4 Generalized Seizures and Related Epilepsy Syndromes
Absence Seizures
Generalized Motor Seizure
Benign Generalized Epilepsies
Severe Generalized Epilepsies
593.5 Mechanisms of Seizures
Bibliography
593.6 Treatment of Seizures and Epilepsy
Deciding on Long-Term Therapy
Counseling
Mechanisms of Action of Antiepileptic Drugs
Choice of Drug According to Seizure Type and Epilepsy Syndrome
Choice of Drug: Other Considerations
Initiating and Monitoring Therapy
Titration
Monitoring
Side Effects
Additional Treatments
Approach to Epilepsy Surgery
Discontinuation of Therapy
Sudden Unexpected Death in Epilepsy
Bibliography
593.7 Neonatal Seizures
Pathophysiology
Types of Neonatal Seizures
Subtle Seizures
Clonic Seizures
Tonic Seizures
Spasms
Myoclonic Seizures
Seizures vs Jitteriness
Etiology
Hypoxic–Ischemic Encephalopathy
Vascular Events
Intracranial Infections
Brain Malformations
Metabolic Disturbances
Drug Withdrawal
Neonatal Seizure Syndromes
Miscellaneous Conditions
Diagnosis
Prognosis
Treatment
Lorazepam
Diazepam
Midazolam
Phenobarbital
Phenytoin and Fosphenytoin
Other Medications
Duration of Therapy
Bibliography
593.8 Status Epilepticus
Etiology
Mechanisms
Therapy
Bibliography
593.9 Reflex Seizures (Stimulus Precipitated Seizures)
Bibliography
593.10 Nodding Syndrome
Bibliography
Chapter 594: Conditions That Mimic Seizures
Syncope and Other Generalized Paroxysms
Apnea
Breath-Holding Spells
Compulsive Valsalva
Neurally Mediated Syncope
Cardiac Syncope
Other Causes of Syncope
Sporadic and Familial Hemiplegic Migraine
Benign Paroxysmal Vertigo of Childhood
Cyclic Vomiting Syndrome
The “Alice in Wonderland” Syndrome
Migraine-Induced Syncope
Psychologic Disorders
Paroxysmal Extreme Pain Disorder
Autonomic Storms (Diencephalic Seizures)
Movement Disorders and Other Abnormal Movements and Postures
Neonatal Jitteriness and Clonus
Hyperekplexia (Stiff Baby Syndrome) and Pathologic Startles
Benign Paroxysmal Torticollis of Infancy
Sandifer Syndrome
Alternating Hemiplegia of Childhood
Paroxysmal Dyskinesias and Other Movement Disorders
Motor Tics
Episodic Ataxias
Benign Myoclonus of Early Infancy, Shuddering Attacks, and Chin Trembling
Brainstem Dysfunction
Psychologic Disorders
Oculomotor Abnormalities and Visual Hallucinations
Paroxysmal Tonic Upgaze of Childhood
Oculomotor Apraxia and Saccadic Intrusions
Spasmus Nutans
Opsoclonus Myoclonus Syndrome
Daydreaming and Behavioral Staring
Visual Hallucinations
Sleep Disorders
Benign Sleep Myoclonus and Neonatal Sleep Myoclonus
Nonrapid Eye Movement Partial Arousal Disorders
Rapid Eye Movement Sleep Disorders
Sleep Transition Disorders
Narcolepsy-Cataplexy Syndrome
Bibliography
Chapter 595: Headaches
595.1 Migraine
Epidemiology
Classification and Clinical Manifestations
Migraine Without Aura
Migraine with Aura
Diagnosis and Differential Diagnosis
Treatment
Acute Treatment
Emergency Department Treatments for Intractable Headaches
Antidopaminergic Drugs: Prochlorperazine and Metoclopramide.
Nonsteroidal Antiinflammatory Drugs: Ketorolac.
Antiepileptic Drugs: Sodium Valproate.
Triptans.
Dihydroergotamine.
Inpatient Management of Intractable Migraine and Status Migrainosus
Dihydroergotamine.
Sodium Valproate.
Preventive Therapy
Biobehavioral Therapy
Bibliography
595.2 Secondary Headaches
Bibliography
595.3 Tension-Type Headaches
Bibliography
Chapter 596: Neurocutaneous Syndromes
596.1 Neurofibromatosis
Clinical Manifestations and Diagnosis
Management
Genetic Counseling
Bibliography
596.2 Tuberous Sclerosis
Clinical Manifestations and Diagnosis
Skin Lesions
Other Organ Involvement
Management
Bibliography
596.3 Sturge-Weber Syndrome
Etiology
Clinical Manifestations
Diagnosis
Management
Bibliography
596.4 Von Hippel-Lindau Disease
Bibliography
596.5 Linear Nevus Syndrome
Bibliography
596.6 PHACE Syndrome
Bibliography
596.7 Incontinentia Pigmenti
Clinical Manifestations and Diagnosis
Management
Bibliography
Chapter 597: Movement Disorders
597.1 Ataxias
597.2 Chorea, Athetosis, Tremor
597.3 Dystonia
Inherited Primary Dystonias
Drug-Induced Dystonias
Cerebral Palsy
Metabolic Disorders
Other Disorders
Treatment
Bibliography
Chapter 598: Encephalopathies
598.1 Cerebral Palsy
Epidemiology and Etiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
598.2 Mitochondrial Encephalomyopathies
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes
Myoclonus Epilepsy and Ragged Red Fibers
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome
Leber Hereditary Optic Neuropathy
Kearns-Sayre Syndrome
Reversible Infantile Cytochrome C Oxidase Deficiency Myopathy
Leigh Disease (Subacute Necrotizing Encephalomyopathy)
Reye Syndrome
Bibliography
598.3 Other Encephalopathies
Hiv Encephalopathy
Lead Encephalopathy
Burn Encephalopathy
Hypertensive Encephalopathy
Radiation Encephalopathy
Acute Necrotizing Encephalopathy
Cystic Leukoencephalopathy
Bibliography
598.4 Autoimmune Encephalitis
Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Limbic Encephalitis
Hashimoto Encephalopathy
Opsoclonus–Myoclonus and Other Brainstem–Cerebellar Encephalitides
Bickerstaff Encephalitis
Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids
Autoimmune Encephalopathies Associated with Epilepsy and Status Epilepticus
Other Suspected Autoimmune Encephalitides
Bibliography
Chapter 599: Neurodegenerative Disorders of Childhood
599.1 Sphingolipidoses
Gangliosidoses
GM1 Gangliosidoses
GM2 Gangliosidoses
Krabbe Disease (Globoid Cell Leukodystrophy)
Metachromatic Leukodystrophy
Bibliography
599.2 Neuronal Ceroid Lipofuscinoses
Bibliography
599.3 Adrenoleukodystrophy
599.4 Sialidosis
Bibliography
599.5 Miscellaneous Disorders
Pelizaeus-Merzbacher Disease
Alexander Disease
Canavan Spongy Degeneration
Other Leukodystrophies
Menkes Disease
Rett Syndrome
Subacute Sclerosing Panencephalitis
Neurodegeneration with Brain Iron Accumulation
Bibliography
Chapter 600: Demyelinating Disorders of the Central Nervous System
600.1 Multiple Sclerosis
Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prognosis
Bibliography
600.2 Neuromyelitis Optica
Epidemiology
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Complications
Treatment
Prognosis
Bibliography
600.3 Acute Disseminated Encephalomyelitis
Epidemiology
Pathogenesis
Clinical Manifestations
Neuroimaging
Laboratory Findings
Differential Diagnosis
Treatment
Prognosis
Bibliography
Chapter 601: Pediatric Stroke
601.1 Arterial Ischemic Stroke
Perinatal Arterial Ischemic Stroke
Bibliography
601.2 Cerebral Sinovenous Thrombosis
Bibliography
601.3 Hemorrhagic Stroke
Bibliography
601.4 Differential Diagnosis of Stroke-Like Events
Migraine
Seizure
Infection
Demyelination
Hypoglycemia
Global Hypoxic–Ischemic Encephalopathy
Hypertensive Encephalopathy
Inborn Errors of Metabolism
Vestibulopathy/Ataxia
Channelopathies
Alternating Hemiplegia of Childhood
Chapter 602: Central Nervous System Vasculitis
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 603: Central Nervous System Infections
603.1 Acute Bacterial Meningitis Beyond the Neonatal Period
Etiology
Epidemiology
Streptococcus pneumoniae
Neisseria meningitidis
Haemophilus influenzae Type B
Pathology and Pathophysiology
Pathogenesis
Clinical Manifestations
Diagnosis
Lumbar Puncture
Differential Diagnosis
Treatment
Initial Antibiotic Therapy
Duration of Antibiotic Therapy
Corticosteroids
Supportive Care
Complications
Prognosis
Prevention
Neisseria meningitidis
Haemophilus influenzae Type B
Streptococcus pneumoniae
Bibliography
603.2 Viral Meningoencephalitis
Etiology
Epidemiology
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Differential Diagnosis
Laboratory Findings
Treatment
Prognosis
Prevention
Bibliography
603.3 Eosinophilic Meningitis
Etiology
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 604: Brain Abscess
Pathology
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
Chapter 605: Idiopathic Intracranial Hypertension/Pseudotumor Cerebri
Etiology
Clinical Manifestations
Treatment
Bibliography
Chapter 606: Spinal Cord Disorders
606.1 Tethered Cord
Clinical Manifestations
Diagnostic Evaluation
Treatment
Outcome
Bibliography
606.2 Diastematomyelia
Diastematomyelia: Split-Cord Malformation
Clinical Manifestations
Diagnostic Evaluation
Treatment
Bibliography
606.3 Syringomyelia
Clinical Manifestations
Diagnostic Evaluation
Treatment
Bibliography
606.4 Spinal Cord Tumors
Clinical Manifestations
Diagnostic Evaluation
Treatment
Outcome
Bibliography
606.5 Spinal Cord Injuries in Children
Clinical Manifestations
Clearing the Cervical Spine in Children
Treatment
Prevention
Bibliography
606.6 Transverse Myelitis
Clinical Manifestations
Diagnostic Evaluation
Treatment
Bibliography
606.7 Spinal Arteriovenous Malformations
Diagnostic Evaluation
Treatment
Part XXVIII: Neuromuscular Disorders
Chapter 607: Evaluation and Investigation
Clinical Manifestations
Laboratory Findings
Serum Enzymes
Molecular Genetic Markers
Nerve Conduction Velocity
Electromyography
Imaging of Muscle and Central Nervous System
Muscle Biopsy
Nerve Biopsy
Cardiac Assessment
Bibliography
Chapter 608: Developmental Disorders of Muscle
Myogenic Regulatory Genes and Genetic Loci of Inherited Diseases of Muscle
Bibliography
608.1 Myotubular Myopathy (Centronuclear Myopathy)
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Genetics
Treatment
Prognosis
Bibliography
608.2 Congenital Muscle Fiber-Type Disproportion
Pathogenesis
Clinical Manifestations
Laboratory Findings
Diagnosis
Genetics
Treatment
Bibliography
608.3 Nemaline Rod Myopathy
Clinical Manifestations
Laboratory Findings
Genetics
Treatment and Prognosis
Bibliography
608.4 Central Core, Minicore, and Multicore Myopathies
Bibliography
608.5 Myofibrillar Myopathies
Bibliography
608.6 Brain Malformations and Muscle Development
Bibliography
608.7 Amyoplasia
608.8 Muscular Dysgenesis (Proteus Syndrome Myopathy)
Bibliography
608.9 Benign Congenital Hypotonia
Bibliography
608.10 Arthrogryposis
Bibliography
Chapter 609: Muscular Dystrophies
609.1 Duchenne and Becker Muscular Dystrophies
Clinical Manifestations
Laboratory Findings
Diagnosis
Genetic Etiology and Pathogenesis
Treatment
Bibliography
609.2 Emery-Dreifuss Muscular Dystrophy
Genetics
Diagnosis and Investigations
Bibliography
609.3 Myotonic Muscular Dystrophy
Clinical Manifestations
Laboratory Findings
Diagnosis
Genetics
Treatment
Other Myotonic Syndromes
Bibliography
609.4 Limb-Girdle Muscular Dystrophies
Bibliography
609.5 Facioscapulohumeral Muscular Dystrophy
Clinical Manifestations
Laboratory Findings
Diagnosis and Differential Diagnosis
Treatment
Bibliography
609.6 Congenital Muscular Dystrophies
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Bibliography
Chapter 610: Endocrine and Toxic Myopathies
Thyroid Myopathies
Steroid-Induced Myopathy
Bibliography
Chapter 611: Metabolic Myopathies
611.1 Periodic Paralyses (Potassium-Related) and Other Muscle Channelopathies
Treatment
Other Muscle Channelopathies
Bibliography
611.2 Malignant Hyperthermia
611.3 Glycogenoses
Bibliography
611.4 Mitochondrial Myopathies
Investigations
Treatment
Bibliography
611.5 Lipid Myopathies
Bibliography
611.6 Vitamin E Deficiency Myopathy
Bibliography
Chapter 612: Disorders of Neuromuscular Transmission and of Motor Neurons
612.1 Myasthenia Gravis
Autoimmune Myasthenia Gravis
Clinical Manifestations
Congenital Myasthenic Syndromes
Rare Other Causes of Myasthenia
Laboratory Findings and Diagnosis
Recommendations on the Use of Cholinesterase Inhibitors as a Diagnostic Test for Myasthenia Gravis in Infants and Children
Children 2 Yr and Older
For Children Younger Than 2 Yr
Treatment
Complications
Prognosis
Other Causes of Neuromuscular Blockade
Bibliography
612.2 Spinal Muscular Atrophies
Etiology
Clinical Manifestations
Laboratory Findings
Diagnosis
Genetics
Treatment
Bibliography
612.3 Other Motor Neuron Diseases
Chapter 613: Hereditary Motor-Sensory Neuropathies
613.1 Peroneal Muscular Atrophy (Charcot-Marie-Tooth Disease, Hereditary Motor-Sensory Neuropathy Type IIa)
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
613.2 Peroneal Muscular Atrophy (Axonal Type)
613.3 Congenital Hypomyelinating Neuropathy and Dejerine-Sottas Disease (Hereditary Motor-Sensory Neuropathy Type III)
613.4 Roussy-Lévy Syndrome
613.5 Refsum Disease (Hereditary Sensory Neuropathy Type IV) and Infantile Refsum Disease
613.6 Fabry Disease
Clinical Manifestations
Laboratory Findings
Treatment
613.7 Giant Axonal Neuropathy
613.8 Tomaculous (Hypermyelinating) Neuropathy; Hereditary Neuropathy with Liability to Pressure Palsies
613.9 Leukodystrophies
Bibliography
Chapter 614: Toxic Neuropathies
Bibliography
Chapter 615: Autonomic Neuropathies
615.1 Familial Dysautonomia
Pathology
Clinical Manifestations
Laboratory Findings
Diagnosis
Treatment
Prognosis
Bibliography
615.2 Other Autonomic Neuropathies
Congenital Insensitivity to Pain and Anhidrosis
Reflex Sympathetic Dystrophy
Bibliography
Chapter 616: Guillain-Barré Syndrome
Clinical Manifestations
Laboratory Findings and Diagnosis
Treatment
Prognosis
Bibliography
Chapter 617: Bell Palsy
Clinical Manifestations
Imaging the Facial Nerve and Its Bony Canal
Treatment
Prognosis
Facial Palsy at Birth
Bibliography
Part XXIX: Disorders of the Eye
Chapter 618: Growth and Development
Bibliography
Chapter 619: Examination of the Eye
Visual Acuity
Visual Field Assessment
Color Vision Testing
Pupillary Examination
Ocular Motility
Binocular Vision
External Examination
Biomicroscopy (Slit-Lamp Examination)
Fundus Examination (Ophthalmoscopy)
Refraction
Tonometry
Bibliography
Chapter 620: Abnormalities of Refraction and Accommodation
Hyperopia
Myopia
Astigmatism
Anisometropia
Accommodation
Bibliography
Chapter 621: Disorders of Vision
Amblyopia
Diplopia
Suppression
Amaurosis
Nyctalopia
Psychogenic Disturbances
Dyslexia
Bibliography
Chapter 622: Abnormalities of Pupil and Iris
Aniridia
Coloboma of the Iris
Microcoria
Congenital Mydriasis
Dyscoria and Corectopia
Anisocoria
Dilated Fixed Pupil
Tonic Pupil
Marcus Gunn Pupil
Horner Syndrome
Paradoxical Pupil Reaction
Persistent Pupillary Membrane
Heterochromia
Other Iris Lesions
Leukocoria
Bibliography
Chapter 623: Disorders of Eye Movement and Alignment
Strabismus
Diagnosis
Clinical Manifestations and Treatment
Comitant Strabismus
Noncomitant Strabismus
3rd Nerve Palsy
4th Nerve Palsy
6th Nerve Palsy
Strabismus Syndromes
Monocular Elevation Deficiency
Duane Syndrome
Möbius Syndrome
Brown Syndrome
Parinaud Syndrome
Congenital Ocular Motor Apraxia
Nystagmus
Other Abnormal Eye Movements
Opsoclonus
Ocular Motor Dysmetria
Flutter-Like Oscillations
Bibliography
Chapter 624: Abnormalities of the Lids
Ptosis
Epicanthal Folds
Lagophthalmos
Lid Retractions
Ectropion, Entropion, and Epiblepharon
Blepharospasm
Blepharitis
Hordeolum (Stye)
Chalazion
Coloboma of the Eyelid
Tumors of the Lid
Bibliography
Chapter 625: Disorders of the Lacrimal System
The Tear Film
Dacryostenosis
Alacrima and “Dry Eye”
Bibliography
Chapter 626: Disorders of the Conjunctiva
Conjunctivitis
Ophthalmia Neonatorum
Epidemiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis and Prevention
Acute Purulent Conjunctivitis
Viral Conjunctivitis
Epidemic Keratoconjunctivitis
Membranous and Pseudomembranous Conjunctivitis
Allergic Conjunctivitis
Vernal Conjunctivitis
Parinaud Oculoglandular Syndrome
Chemical Conjunctivitis
Other Conjunctival Disorders
Bibliography
Chapter 627: Abnormalities of the Cornea
Megalocornea
Microcornea
Keratoconus
Neonatal Corneal Opacities
Sclerocornea
Peters Anomaly
Corneal Dystrophies
Dermoids
Dendritic Keratitis
Corneal Ulcers
Phlyctenules
Interstitial Keratitis
Corneal Manifestations of Systemic Disease
Bibliography
Chapter 628: Abnormalities of the Lens
Cataracts
Differential Diagnosis
Developmental Variants
Prematurity
Mendelian Inheritance
Congenital Infection Syndrome
Metabolic Disorders
Chromosomal Defects
Drugs, Toxic Agents, and Trauma
Miscellaneous Disorders
Treatment
Prognosis
Ectopia Lentis
Differential Diagnosis
Treatment and Prognosis
Microspherophakia
Anterior Lenticonus
Posterior Lenticonus
Bibliography
Chapter 629: Disorders of the Uveal Tract
Uveitis (Iritis, Cyclitis, Chorioretinitis)
Treatment
Bibliography
Chapter 630: Disorders of the Retina and Vitreous
Retinopathy of Prematurity
Pathogenesis
Classification
Clinical Manifestations and Prognosis
Diagnosis
Treatment
Prevention
Persistent Fetal Vasculature
Pathogenesis
Clinical Manifestations
Treatment
Retinoblastoma
Clinical Manifestations
Diagnosis
Treatment
Retinitis Pigmentosa
Stargardt Disease (Fundus Flavimaculatus)
Best Vitelliform Degeneration
Cherry-Red Spot
Phakomas
Retinoschisis
Retinal Detachment
Coats Disease
Familial Exudative Vitreoretinopathy
Hypertensive Retinopathy
Diabetic Retinopathy
Treatment
Subacute Bacterial Endocarditis
Blood Disorders
Trauma-Related Retinopathy
Myelinated Nerve Fibers
Coloboma of the Fundus
Bibliography
Chapter 631: Abnormalities of the Optic Nerve
Optic Nerve Aplasia
Optic Nerve Hypoplasia
Optic Nerve Coloboma
Morning Glory Disc Anomaly
Tilted Disc
Drusen of the Optic Nerve
Papilledema
Optic Neuritis
Leber Optic Neuropathy
Optic Atrophy
Optic Nerve Glioma
Traumatic Optic Neuropathies
Bibliography
Chapter 632: Childhood Glaucoma
Clinical Manifestations
Diagnosis and Treatment
Bibliography
Chapter 633: Orbital Abnormalities
Hypertelorism and Hypotelorism
Exophthalmos and Enophthalmos
Orbital Inflammation
Tumors of the Orbit
Bibliography
Chapter 634: Orbital Infections
Dacryoadenitis
Dacryocystitis
Preseptal Cellulitis
Orbital Cellulitis
Bibliography
Chapter 635: Injuries to the Eye
Ecchymosis and Swelling of the Eyelids
Lacerations of the Eyelids
Superficial Abrasions of the Cornea
Foreign Body Involving the Ocular Surface
Hyphema
Open Globe
Optic Nerve Trauma
Chemical Injuries
Orbital Fractures
Penetrating Wounds of the Orbit
Child Abuse
Fireworks-Related Injuries
Sports-Related Ocular Injuries and Their Prevention
Handheld Laser Retinal Injury
Bibliography
Part XXX: The Ear
Chapter 636: General Considerations and Evaluation
Clinical Manifestations
Facial Paralysis
Physical Examination
Bibliography
Chapter 637: Hearing Loss
Incidence and Prevalence
Types of Hearing Loss
Etiology
Infectious Causes
Genetic Causes
Physical Causes
Effects of Hearing Impairment
Hearing Screening
Identification of Hearing Impairment
Clinical Audiologic Evaluation
Audiometry
Speech-Recognition Threshold
Play Audiometry
Visual Reinforcement Audiometry
Behavioral Observation Audiometry
Acoustic Immittance Testing
Tympanometry
Tympanometry in Otitis Media with Effusion
Acoustic Reflex Test
Auditory Brainstem Response
Otoacoustic Emissions
Acoustic Reflectometry
Treatment
Genetic Counseling
Bibliography
Chapter 638: Congenital Malformations
Pinna Malformations
Congenital Stenosis or Atresia of the External Auditory Canal
Congenital Middle-Ear Malformations
Congenital Inner Ear Malformations
Congenital Cholesteatoma
Bibliography
Chapter 639: External Otitis (Otitis Externa)
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prevention
Other Diseases of the External Ear
Furunculosis
Acute Cellulitis
Perichondritis and Chondritis
Dermatoses
Herpes Simplex Virus
Bullous Myringitis
Exostoses and Osteomas
Bibliography
Chapter 640: Otitis Media
Epidemiology
Age
Gender
Race
Genetic Background
Socioeconomic Status
Breast Milk Compared to Formula Feeding
Exposure to Tobacco Smoke
Exposure to Other Children
Season
Congenital Anomalies
Vaccination Status
Other Factors
Etiology
Acute Otitis Media
Otitis Media with Effusion
Pathogenesis
Anatomic Factors
Host Factors
Viral Pathogens
Allergy
Clinical Manifestations
Examination of the Tympanic Membrane
Otoscopy
Clearing the External Auditory Canal
Tympanic Membrane Findings
Diagnosis
Conjunctivitis-Associated Otitis Media
Asymptomatic Purulent Otitis Media
Tympanometry
Prevention
Immunoprophylaxis
Treatment
Management of Acute Otitis Media
Bacterial Resistance
First-Line Antimicrobial Treatment
Duration of Treatment
Follow-Up
Unsatisfactory Response to First-Line Treatment
Second-Line Treatment
Antimicrobial Prophylaxis
Myringotomy and Tympanocentesis
Early Recurrence After Treatment
Myringotomy and Insertion of Tympanostomy Tubes
Tube Otorrhea
Management of Otitis Media with Effusion
Variables Influencing Otitis Media with Effusion Management Decisions
Medical Treatment
Myringotomy and Insertion of Tympanostomy Tubes
Adenoidectomy
Complications of Acute Otitis Media
Intratemporal Complications
Infectious Dermatitis
Tympanic Membrane Perforation
Chronic Suppurative Otitis Media
Acute Mastoiditis
Facial Paralysis
Cholesteatoma
Labyrinthitis
Intracranial Complications
Physical Sequelae
Possible Developmental Sequelae
Bibliography
Chapter 641: The Inner Ear and Diseases of the Bony Labyrinth
Viruses
Toxoplasmosis
Bacterial Meningitis
Syphilis
Other Diseases of the Inner Ear
Bibliography
Chapter 642: Traumatic Injuries of the Ear and Temporal Bone
Auricle and External Auditory Canal
Tympanic Membrane and Middle Ear
Temporal Bone Fractures
Acoustic Trauma
Bibliography
Chapter 643: Tumors of the Ear and Temporal Bone
Bibliography
Part XXXI: The Skin
Chapter 644: Morphology of the Skin
Epidermis
Dermis
Subcutaneous Tissue
Appendageal Structures
Hair Follicles
Sebaceous Glands
Apocrine Glands
Eccrine Sweat Glands
Nails
Bibliography
Chapter 645: Evaluation of the Patient
History and Physical Examination
Biopsy of Skin
Wood Lamp
Potassium Hydroxide Preparation
Tzanck Smear
Immunofluorescence Studies
645.1 Cutaneous Manifestations of Systemic Diseases
Connective Tissue Diseases
Lupus Erythematosus
Systemic Lupus Erythematosus
Neonatal Lupus Erythematosus
Discoid Lupus Erythematosus
Juvenile Dermatomyositis
Systemic Sclerosis
Vasculitides
Henoch-Schönlein Purpura (Immunoglobulin A Vasculitis)
Kawasaki Disease
Behçet Disease
Gastrointestinal Diseases
Inflammatory Bowel Disease
Cutaneous Manifestations of Malignancy
Sweet Syndrome
Necrolytic Migratory Erythema (Glucagonoma Syndrome)
Cutaneous Reactions in the Setting of Immunosuppression
Medication Reactions
Graft-Versus-Host Disease
Bibliography
645.2 Multisystem Medication Reactions
Drug Rash with Eosinophilia and Systemic Symptoms (DRESS Syndrome)
Serum Sickness–Like Reaction
Acute Generalized Exanthematous Pustulosis
Bibliography
Chapter 646: Principles of Therapy
Wet Dressings
Bath Oils, Colloids, Soaps
Lubricants
Shampoos
Shake Lotions
Powders
Pastes
Keratolytic Agents
Tar Compounds
Antifungal Agents
Topical Antibiotics
Topical Corticosteroids
Topical Nonsteroidal Antiinflammatory Agents
Sunscreens
Laser Therapy
Bibliography
Chapter 647: Diseases of the Neonate
Sebaceous Hyperplasia
Milia
Sucking Blisters
Cutis Marmorata
Harlequin Color Change
Nevus Simplex (Salmon Patch)
Dermal Melanocytosis (Mongolian Spots)
Erythema Toxicum
Transient Neonatal Pustular Melanosis
Infantile Acropustulosis
Eosinophilic Pustular Folliculitis
Bibliography
Chapter 648: Cutaneous Defects
Skin Dimples
Redundant Skin
Amniotic Constriction Bands
Preauricular Sinuses and Pits
Accessory Tragi
Branchial Cleft and Thyroglossal Cysts and Sinuses
Supernumerary Nipples
Aplasia Cutis Congenita (Congenital Absence of Skin)
Focal Facial Dermal Dysplasias
Focal Dermal Hypoplasia (Goltz Syndrome)
Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)
Cutis Verticis Gyrata
Bibliography
Chapter 649: Ectodermal Dysplasias
Hypohidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia (Clouston Syndrome)
Bibliography
Chapter 650: Vascular Disorders
Vascular Malformations
Capillary Malformation (Port-Wine Stain)
Angiokeratoma Circumscriptum
Venous Malformation
Cutis Marmorata Telangiectatica Congenita
Blue Rubber Bleb Nevus Syndrome
Klippel-Trenaunay and Parkes-Weber Syndromes
Arteriovenous Malformation
Lymphatic Malformations
Phakomatosis Pigmentovascularis
Nevus Anemicus
Vascular Tumors
Infantile Hemangioma
Multifocal Infantile Hemangioma
Kaposiform Hemangioendothelioma
Kasabach-Merritt Phenomenon
Pyogenic Granuloma (Lobular Capillary Hemangioma)
Angiokeratoma of Mibelli
Spider Angioma
Maffucci Syndrome
Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)
Ataxia-Telangiectasia
Angiokeratoma Corporis Diffusum (Fabry Disease)
Bibliography
Chapter 651: Cutaneous Nevi
Acquired Melanocytic Nevus
Epidemiology
Clinical Manifestations
Prognosis and Treatment
Atypical Melanocytic Nevus
Congenital Melanocytic Nevus
Melanoma
Halo Nevus
Spitz Nevus (Spindle and Epithelioid Cell Nevus)
Zosteriform Lentiginous Nevus (Agminated Lentigines)
Nevus Spilus (Speckled Lentiginous Nevus)
Nevus of Ota and Nevus of Ito
Blue Nevi
Nevus Depigmentosus (Achromic Nevus)
Epidermal Nevi
Nevus Sebaceus (Jadassohn)
Becker Nevus (Becker Melanosis)
Nevus Comedonicus
Connective Tissue Nevus
Smooth Muscle Hamartoma
Bibliography
Chapter 652: Hyperpigmented Lesions
Disorders of Pigment
Ephelides (Freckles)
Lentigines
Café-Au-Lait Spots
Neurofibromatosis Type 1 (von Recklinghausen Disease)
Incontinentia Pigmenti (Bloch-Sulzberger Disease)
Postinflammatory Pigmentary Changes
Bibliography
Chapter 653: Hypopigmented Lesions
Albinism
Oculocutaneous Albinism with Melanosomal Abnormalities
Melanoblast Migration Abnormalities
Piebaldism
Waardenburg Syndrome
Tuberous Sclerosis Complex (TSC1, TSC2 Genes)
Hypomelanosis of Ito
Vitiligo
Epidemiology and Etiology
Clinical Manifestations
Treatment
Bibliography
Chapter 654: Vesiculobullous Disorders
654.1 Erythema Multiforme
Etiology
Clinical Manifestations
Pathogenesis
Pathology
Differential Diagnosis
Treatment
Bibliography
654.2 Stevens-Johnson Syndrome
Etiology
Clinical Manifestations
Pathogenesis
Differential Diagnosis
Treatment
Bibliography
654.3 Toxic Epidermal Necrolysis
Epidemiology and Etiology
Clinical Manifestations
Treatment
Bibliography
654.4 Mechanobullous Disorders
Epidermolysis Bullosa
Epidermolysis Bullosa Simplex
Junctional Epidermolysis Bullosa
Dystrophic Epidermolysis Bullosa
Kindler Syndrome
Bibliography
654.5 Pemphigus
Pemphigus Vulgaris
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Differential Diagnosis
Treatment
Pemphigus Foliaceus
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Differential Diagnosis
Bullous Pemphigoid
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Diagnosis and Differential Diagnoses
Treatment
Bibliography
654.6 Dermatitis Herpetiformis
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Differential Diagnosis
Treatment
Bibliography
654.7 Linear Immunoglobulin A Dermatosis (Chronic Bullous Dermatosis of Childhood)
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Differential Diagnosis
Treatment
Bibliography
Chapter 655: Eczematous Disorders
655.1 Contact Dermatitis
Irritant Contact Dermatitis
Diaper Dermatitis
Allergic Contact Dermatitis
Bibliography
655.2 Nummular Eczema
Bibliography
655.3 Pityriasis Alba
Bibliography
655.4 Lichen Simplex Chronicus
655.5 Acute Palmoplantar Eczema (Dyshidrotic Eczema, Dyshidrosis, Pompholyx)
655.6 Seborrheic Dermatitis
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Bibliography
Chapter 656: Photosensitivity
Acute SUNBURN Reaction
Photosensitive Reactions
Porphyrias
Colloid Milium
Hydroa Vacciniforme
Solar Urticaria
Polymorphous Light Eruption
Actinic Prurigo
Cockayne Syndrome
Xeroderma Pigmentosum
Rothmund-Thomson Syndrome
Bloom Syndrome
Hartnup Disease
Bibliography
Chapter 657: Diseases of the Epidermis
657.1 Psoriasis
Etiology/Pathogenesis
Clinical Manifestations
Differential Diagnosis
Pathology
Treatment
Prognosis
Bibliography
657.2 Pityriasis Lichenoides
Etiology/Pathogenesis
Clinical Manifestations
Pathology
Differential Diagnosis
Treatment
Bibliography
657.3 Keratosis Pilaris
657.4 Lichen Spinulosus
657.5 Pityriasis Rosea
Etiology/Pathogenesis
Clinical Manifestations
Differential Diagnosis
Treatment
Bibliography
657.6 Pityriasis Rubra Pilaris
Etiology/Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Bibliography
657.7 Darier Disease (Keratosis Follicularis)
Etiology/Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Bibliography
657.8 Lichen Nitidus
Etiology/Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Bibliography
657.9 Lichen Striatus
Etiology/Pathogenesis
Clinical Manifestations
Differential Diagnosis
Treatment
Bibliography
657.10 Lichen Planus
Etiology/Pathogenesis
Clinical Manifestations
Histology
Treatment
Bibliography
657.11 Porokeratosis
Etiology/Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Bibliography
657.12 Gianotti-Crosti Syndrome (Papular Acrodermatitis)
Etiology/Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Bibliography
657.13 Acanthosis Nigricans
Etiology/Pathogenesis
Clinical Manifestations
Histology
Treatment
Bibliography
Chapter 658: Disorders of Keratinization
Disorders of Cornification
Collodion Baby
Common Ichthyoses
Ichthyosis Vulgaris
Etiology/Pathogenesis
Clinical Manifestations
Treatment
X-Linked Ichthyosis
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Autosomal Recessive Congenital Ichthyoses (ARCI)
Harlequin Ichthyosis
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Lamellar Ichthyosis and Congenital Ichthyosiform Erythroderma (Nonbullous Congenital Ichthyosiform Erythroderma)
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Keratinopathic Ichthyoses
Epidermolytic Ichthyosis (Bullous Congenital Ichthyosiform Erythroderma; Epidermolytic Hyperkeratosis)
Etiology/Pathogenesis
Clinical Manifestations
Histopathology
Treatment
Other Nonsyndromic Ichthyoses
Erythrokeratoderma Variabilis
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Symmetric Progressive Erythrokeratoderma
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Syndromic Ichthyoses
Sjögren-Larsson Syndrome
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Netherton Syndrome
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Refsum Syndrome
Etiology/Pathogenesis
Clinical Manifestations
Treatment
Chondrodysplasia Punctata
Etiology/Pathogenesis
Clinical Manifestations
Other Syndromes with Ichthyosis
Palmoplantar Keratodermas
Diffuse Hyperkeratosis of Palms and Soles (Unna-Thost, Vorner)
Mal De Meleda (SLURP-1 Gene)
Vohwinkel Palmoplantar Keratoderma (Mutilating Keratoderma)
Papillon-Lefèvre Syndrome (Cathepsin C Gene)
Other Syndromes
Treatment
Bibliography
Chapter 659: Diseases of the Dermis
Keloid
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Striae Cutis Distensae (Stretch Marks)
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Treatment
Corticosteroid-Induced Atrophy
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Granuloma Annulare
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Necrobiosis Lipoidica
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Lichen Sclerosus
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Morphea
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Scleredema (Scleredema Adultorum, Scleredema of Buschke)
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Lipoid Proteinosis (Urbach-Wiethe Disease, Hyalinosis Cutis Et Mucosae)
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Macular Atrophy (Anetoderma)
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Cutis Laxa (Dermatomegaly, Generalized Elastolysis)
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Ehlers-Danlos Syndrome
Classification
Classic (COL5A1, COL5A2, COL1A1 Genes; Previously EDS Type I—Gravis, EDS Type II—MITIS)
Hypermobile (COL3A1 Gene; Previously EDS Type III)
Vascular (COL3A1 Gene; Previously EDS Type IV—Arterial Ecchymotic)
Kyphoscoliosis (Lysyl Hydroxylase [PLOD Gene] Deficiency; Previously EDS Type VI)
Arthrochalasia (COLA1A Gene, Type A; COL1A2 Gene, Type B; Previously EDS Types VIIA and B—Arthrochalasis Multiplex Congenita)
Dermatosparaxis (Type 1 Collagen N-Peptidase; Previously EDS Type VIIC)
Differential Diagnosis
Pseudoxanthoma Elasticum
Etiology and Pathogenesis
Clinical Manifestations
Pathology
Treatment
Elastosis Perforans Serpiginosa
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Reactive Perforating Collagenosis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Xanthomas
Fabry Disease
Mucopolysaccharidoses
Mastocytosis
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Prognosis
Treatment
Bibliography
Chapter 660: Diseases of Subcutaneous Tissue
Corticosteroid-Induced Atrophy
660.1 Panniculitis and Erythema Nodosum
Erythema Nodosum
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Post-Steroid Panniculitis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Lupus Erythematosus Profundus (Lupus Erythematosus Panniculitis)
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
α1-Antitrypsin Deficiency
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Pancreatic Panniculitis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Subcutaneous Fat Necrosis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Sclerema Neonatorum
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Cold Panniculitis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Chilblains (Pernio)
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Factitial Panniculitis
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Bibliography
660.2 Lipodystrophy
Partial Lipodystrophy
Generalized Lipodystrophy
Bibliography
Chapter 661: Disorders of the Sweat Glands
Anhidrosis
Hyperhidrosis
Etiology and Pathogenesis
Clinical Manifestations
Treatment
Miliaria
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Bromhidrosis
Hidradenitis Suppurativa
Etiology and Pathogenesis
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Fox-Fordyce Disease
Etiology and Pathogenesis
Clinical Manifestations
Histology
Treatment
Bibliography
Chapter 662: Disorders of Hair
Hypertrichosis
Hypotrichosis and Alopecia
Traumatic Alopecia (Traction Alopecia, Hair Pulling, Trichotillomania)
Traction Alopecia
Hair Pulling
Trichotillomania
Etiology and Pathogenesis.
Clinical Manifestations.
Differential Diagnosis.
Histology.
Treatment.
Alopecia Areata
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Acquired Diffuse Hair Loss
Telogen Effluvium
Toxic Alopecia (Anagen Effluvium)
Congenital Diffuse Hair Loss
Structural Defects of Hair
Trichorrhexis Nodosa
Acquired Trichorrhexis Nodosa
Pili Torti
Menkes Kinky Hair Syndrome (Trichopoliodystrophy)
Monilethrix
Trichothiodystrophy
Trichorrhexis Invaginata (Bamboo Hair)
Pili Annulati
Woolly Hair Disease
Uncombable Hair Syndrome (Spun-Glass Hair)
Bibliography
Chapter 663: Disorders of the Nails
Abnormalities in Nail Shape or Size
Changes in Nail Color
Nail Separation
Nail Changes Associated with Skin Disease
Trachyonychia (20-Nail Dystrophy)
Nail Infection
Paronychial Inflammation
Paronychial Tumors
Bibliography
Chapter 664: Disorders of the Mucous Membranes
Angular Cheilitis
Aphthous Stomatitis (Canker Sores)
Fordyce Spots
Epstein Pearls (Gingival Cysts of the Newborn)
Mucocele
Fissured Tongue
Geographic Tongue (Benign Migratory Glossitis)
Black Hairy Tongue
Oral Hairy Leukoplakia
Acute Necrotizing Ulcerative Gingivitis (Vincent Stomatitis, Fusospirochetal Gingivitis, Trench Mouth)
Noma
Cowden Syndrome (Multiple Hamartoma Syndrome)
Bibliography
Chapter 665: Cutaneous Bacterial Infections
665.1 Impetigo
Etiology/Pathogenesis
Clinical Manifestations
Nonbullous Impetigo
Bullous Impetigo
Differential Diagnosis
Complications
Treatment
Bibliography
665.2 Subcutaneous Tissue Infections
Cellulitis
Etiology
Clinical Manifestations
Diagnosis
Treatment
Necrotizing Fasciitis
Etiology
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Bibliography
665.3 Staphylococcal Scalded Skin Syndrome (Ritter Disease)
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Bibliography
665.4 Ecthyma
Bibliography
665.5 Other Cutaneous Bacterial Infections
Blastomycosis-Like Pyoderma (Pyoderma Vegetans)
Blistering Distal Dactylitis
Perianal Infectious Dermatitis
Erysipelas
Folliculitis
Furuncles and Abscesses
Etiology
Clinical Manifestations
Treatment
Pitted Keratolysis
Erythrasma
Erysipeloid
Tuberculosis of the Skin
Bibliography
Chapter 666: Cutaneous Fungal Infections
Tinea Versicolor
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Dermatophytoses
Etiology
Epidemiology
Tinea Capitis
Clinical Manifestations
Differential Diagnosis
Treatment
Tinea Corporis
Clinical Manifestations
Differential Diagnosis
Treatment
Tinea Cruris
Clinical Manifestations
Differential Diagnosis
Treatment
Tinea Pedis
Clinical Manifestations
Differential Diagnosis
Treatment
Tinea Unguium
Clinical Manifestations
Differential Diagnosis
Tinea Nigra Palmaris
Candidal Infections (Candidosis, Candidiasis, and Moniliasis)
Oral Candidosis (Thrush)
Vaginal Candidosis
Congenital Cutaneous Candidosis
Candidal Diaper Dermatitis
Intertriginous Candidosis
Perianal Candidosis
Candidal Paronychia and Onychia
Candidal Granuloma
Bibliography
Chapter 667: Cutaneous Viral Infections
Wart (Verruca)
Etiology
Clinical Manifestations
Histology
Differential Diagnosis
Treatment
Molluscum Contagiosum
Etiology
Clinical Manifestations
Differential Diagnosis
Histology
Treatment
Bibliography
Chapter 668: Arthropod Bites and Infestations
668.1 Arthropod Bites
Clinical Manifestations
Treatment
Bibliography
668.2 Scabies
Etiology and Pathogenesis
Clinical Manifestations
Differential Diagnosis
Treatment
Norwegian Scabies
Canine Scabies
Other Types of Scabies
Bibliography
668.3 Pediculosis
Bibliography
668.4 Seabather’s Eruption
Chapter 669: Acne
Acne Vulgaris
Pathogenesis
Clinical Manifestations
Treatment
Diet
Climate
Cleansing
Topical Therapy
Retinoids.
Benzoyl Peroxide.
Topical Antibiotics.
Azelaic Acid.
Systemic Therapy
Surgical Therapy
Drug-Induced Acne
Halogen Acne
Chloracne
Neonatal Acne
Infantile Acne
Tropical Acne
Acne Conglobata
Acne Fulminans (Acute Febrile Ulcerative Acne)
Bibliography
Chapter 670: Tumors of the Skin
Epidermal Inclusion Cyst (Epidermoid Cyst)
Milium
Fibrofolliculomas
Pilar Cyst (Trichilemmal Cyst)
Pilomatricoma
Trichoepithelioma
Eruptive Vellus Hair Cysts
Steatocystoma Multiplex
Syringoma
Infantile Digital Fibroma
Dermatofibroma (Histiocytoma)
Juvenile Xanthogranuloma
Lipoma
Basal Cell Carcinoma
Nevoid Basal Cell Carcinoma Syndrome (Basal Cell Nevus Syndrome, Gorlin Syndrome)
Mucosal Neuroma Syndrome (Multiple Endocrine Neoplasia Type IIB)
Bibliography
Chapter 671: Nutritional Dermatoses
Acrodermatitis Enteropathica
Essential Fatty Acid Deficiency
Kwashiorkor
Cystic Fibrosis
Pellagra
Scurvy (Vitamin C or Ascorbic Acid Deficiency)
Vitamin a Deficiency
Bibliography
Part XXXII: Bone and Joint Disorders
Section 1: Orthopedic Problems
Chapter 672: Growth and Development
In Utero Positioning
Growth and Development
Centers of Ossification
Anatomic Locations: Descriptive Terms
Important Growth and Developmental Milestones
Growth Patterns in Upper and Lower Extremities
Gait/Functional Maturation
Bibliography
Chapter 673: Evaluation of the Child
History
Physical Examination
Inspection
Palpation
Range of Motion
Gait Assessment
Limping
Back Pain
Neurologic Evaluation
Radiographic Assessment
Plain Radiographs
Nuclear Medicine Imaging
Ultrasonography
Magnetic Resonance Imaging
Magnetic Resonance Angiography
Computed Tomography
Laboratory Studies
Bibliography
Chapter 674: The Foot and Toes
674.1 Metatarsus Adductus
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.2 Calcaneovalgus Feet
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.3 Talipes Equinovarus (Clubfoot)
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.4 Congenital Vertical Talus
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.5 Hypermobile Pes Planus (Flexible Flatfeet)
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.6 Tarsal Coalition
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
674.7 Cavus Feet
Treatment
Bibliography
674.8 Osteochondroses/Apophysitis
Bibliography
674.9 Puncture Wounds of the Foot
Bibliography
674.10 Toe Deformities
Juvenile Hallux Valgus (Bunion)
Clinical Manifestations
Radiographic Evaluation
Treatment
Curly Toes
Overlapping Fifth Toe
Polydactyly
Syndactyly
Hammer Toe
Mallet Toe
Claw Toe
Annular Bands
Macrodactyly
Subungual Exostosis
Ingrown Toenail
Bibliography
674.11 Painful Foot
674.12 Shoes
Bibliography
Chapter 675: Torsional and Angular Deformities
675.1 Normal Limb Development
Bibliography
675.2 Evaluation
Foot Progression Angle
Femoral Anteversion
Tibial Rotation
Foot Shape and Position
Bibliography
675.3 Torsional Deformities
Internal Femoral Torsion
Internal Tibial Torsion
External Femoral Torsion
External Tibial Torsion
Metatarsus Adductus
Bibliography
675.4 Coronal Plane Deformities
Genu Varum
Tibia Vara
Genu Valgum (Knock-Knees)
Bibliography
675.5 Congenital Angular Deformities of the Tibia and Fibula
Posteromedial Tibial Bowing
Anteromedial Tibial Bowing (Postaxial Hemimelia)
Anterolateral Tibial Bowing
Tibial Longitudinal Deficiency
Bibliography
Chapter 676: Leg-Length Discrepancy
Diagnosis and Clinical Findings
Radiographic Evaluation
Treatment
Bibliography
Chapter 677: The Knee
Normal Development of the Knee
Anatomy and Range of Motion
677.1 Discoid Lateral Meniscus
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.2 Popliteal Cysts (Baker Cysts)
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.3 Osteochondritis Dissecans
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.4 Osgood-Schlatter Disease and Sinding-Larsen-Johansson Syndrome
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.5 Patellofemoral Pain Syndrome
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.6 Patellofemoral Instability
Clinical Manifestations and Diagnosis
Treatment
Bibliography
677.7 Anterior Cruciate Ligament Rupture
Clinical Manifestations and Diagnosis
Treatment
Bibliography
Chapter 678: The Hip
Growth and Development
Vascular Supply
678.1 Developmental Dysplasia of the Hip
Classification
Etiology and Risk Factors
Epidemiology
Pathoanatomy
Clinical Findings
The Neonate
The Infant
The Walking Child
Diagnostic Testing
Ultrasonography
Radiography
Treatment
Newborns and Infants Younger Than 6 Months
Children 6 Months to 2 Years of Age
Children Older Than 2 Years
Complications
Bibliography
678.2 Transient Monoarticular Synovitis (Toxic Synovitis)
Etiology
Clinical Manifestations
Diagnosis
Treatment
Bibliography
678.3 Legg-Calvé-Perthes Disease
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Classification
Natural History and Prognosis
Treatment
Bibliography
678.4 Slipped Capital Femoral Epiphysis
Classification
Etiology and Pathogenesis
Epidemiology
Clinical Manifestations
Diagnostic Studies
Treatment
Complications
Bibliography
Chapter 679: The Spine
Normal Spinal Curvatures
679.1 Idiopathic Scoliosis
Definition
Etiology
Epidemiology
Classification of Idiopathic Scoliosis
Clinical Presentation of Idiopathic Scoliosis
Physical Examination of Idiopathic Scoliosis
Radiographic Evaluation of Idiopathic Scoliosis
Natural History of Idiopathic Scoliosis
Treatment of Idiopathic Scoliosis
Bibliography
679.2 Congenital Scoliosis
Definition
Etiology
Associated Conditions
Classification of Congenital Scoliosis
Natural History of Congenital Scoliosis
Treatment of Congenital Scoliosis
Thoracic Insufficiency Syndrome
Bibliography
679.3 Neuromuscular Scoliosis, Genetic Syndromes, and Compensatory Scoliosis
Neuromuscular Scoliosis
Syndromes and Genetic Disorders
Compensatory Scoliosis
Bibliography
679.4 Kyphosis (Round-Back)
Flexible Kyphosis (Postural Kyphosis)
Structural Kyphosis
Scheuermann Disease
Physical Exam and Clinical Manifestations
Radiographic Evaluation
Natural History
Treatment
Congenital Kyphosis
Bibliography
679.5 Back Pain in Children
Clinical Evaluation
Medical Decision Making
Radiographic and Laboratory Evaluation
Bibliography
679.6 Spondylolysis and Spondylolisthesis
Clinical Manifestations
Physical Exam
Radiographic Evaluation
Treatment
Bibliography
679.7 Spine Infection
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
679.8 Intervertebral Disc Herniation/Slipped Vertebral Apophysis
Etiology
Clinical Manifestations
Radiographic Evaluation
Treatment
Bibliography
679.9 Tumors
Chapter 680: The Neck
680.1 Torticollis
Congenital Muscular Torticollis
Other Causes of Torticollis
Bibliography
680.2 Klippel-Feil Syndrome
Etiology and Classification
Clinical Presentation
Physical Examination
Radiographic Investigation
Treatment
Bibliography
680.3 Cervical Anomalies and Instabilities
Os Odontoideum
Down Syndrome
22q11.2 Deletion Syndrome
Bibliography
Chapter 681: The Upper Limb
Shoulder
Brachial Plexus Birth Palsy
Treatment
Sprengel’s Deformity
Treatment
Elbow
Panner Disease
Treatment
Radial Longitudinal Deficiency
Treatment
Nursemaid Elbow
Treatment
Wrist
Madelung Deformity
Treatment
Ganglion
Treatment
Hand
Camptodactyly
Treatment
Clinodactyly
Treatment
Polydactyly
Treatment
Thumb Hypoplasia
Treatment
Syndactyly
Treatment
Fingertip Injuries
Trigger Thumb and Fingers
Treatment
Bibliography
Chapter 682: Arthrogryposis
Etiology
Neurologic Abnormalities
Muscular Abnormalities
Limited Intrauterine Spacing
Connective Tissue Abnormalities
Maternal Diseases
Intrauterine Vascular Compromise
Classification
Management of Orthopedic Problems of Arthrogryposis
Foot Problems
Knee Problems
Hip Problems
Ambulation
Upper-Extremity Problems
Surgery of the Upper Extremity
Shoulder
Elbow
Wrist
Scoliosis
Surgical Staging
Bibliography
Chapter 683: Common Fractures
683.1 Unique Characteristics of Pediatric Fractures
Fracture Remodeling
Overgrowth
Progressive Deformity
Rapid Healing
Bibliography
683.2 Pediatric Fracture Patterns
Plastic Deformation
Buckle or Torus Fracture
Greenstick Fracture
Complete Fractures
Epiphyseal Fractures
Child Abuse
Bibliography
683.3 Upper Extremity Fractures
Phalangeal Fractures
Forearm Fractures
Distal Humeral Fractures
Proximal Humerus Fractures
Clavicular Fractures
Bibliography
683.4 Fractures of Lower Extremity
Hip Fracture
Toddler Fracture
Proximal Tibia Fractures
Tibia and Fibula Shaft Fractures
Femoral Shaft Fractures
Triplane and Tillaux Fractures
Metatarsal Fractures
Toe Phalangeal Fractures
Bibliography
683.5 Operative Treatment
Surgical Techniques
Bibliography
683.6 Complications of Fractures in Children
Chapter 684: Osteomyelitis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Radiographic Evaluation
Plain Radiographs
Computed Tomography and Magnetic Resonance Imaging
Radionuclide Studies
Differential Diagnosis
Treatment
Antibiotic Therapy
Surgical Therapy
Physical Therapy
Prognosis
Bibliography
Chapter 685: Septic Arthritis
Etiology
Epidemiology
Pathogenesis
Clinical Manifestations
Diagnosis
Radiographic Evaluation
Plain Radiographs
Ultrasonography
Magnetic Resonance Imaging and Computed Tomography
Radionuclide Imaging
Differential Diagnosis
Treatment
Antibiotic Therapy
Surgical Therapy
Prognosis
Bibliography
Section 2: Sports Medicine
Chapter 686: Epidemiology and Prevention of Injuries
Preparticipation Sports Examination
History and Physical Examination
Bibliography
Chapter 687: Management of Musculoskeletal Injury
Mechanism of Injury
Acute Injuries
Overuse Injuries
Initial Evaluation of the Injured Extremity
Transition From Immediate Management to Return to Play
Phase 1
Phase 2
Phase 3
Phase 4
Relative Rest and Return-to-Play Guidelines
Differential Diagnoses of Musculoskeletal Pain
Bibliography
687.1 Growth Plate Injuries
Bibliography
687.2 Shoulder Injuries
Clavicle Fractures
Acromioclavicular Separation
Anterior Dislocation
Rotator Cuff Injury
Bibliography
687.3 Elbow Injuries
Acute Injuries
Chronic Injuries
Bibliography
687.4 Low Back Injuries
Spondylolysis, Spondylolisthesis, and Facet Syndrome
Spondylolysis
Spondylolisthesis and Facet Syndrome
Lumbar Disk Herniation, Strain, and Contusion
Sacroiliitis
Other Causes
Bibliography
687.5 Hip and Pelvis Injuries
Bibliography
687.6 Knee Injuries
Initial Treatment of Acute Knee Injuries
Chronic Injuries
Patellofemoral Stress Syndrome
Osgood-Schlatter Disease
Other Chronic Injuries
Bibliography
687.7 Lower Leg Pain: Shin Splints, Stress Fractures, and Chronic Compartment Syndrome
Bibliography
687.8 Ankle Injuries
Examination and Injury Grading Scale
Radiographs
Initial Treatment of Ankle Sprains
Rehabilitation
Bibliography
687.9 Foot Injuries
Bibliography
Chapter 688: Sports-Related Traumatic Brain Injury (Concussion)
Epidemiology
Pathophysiology
Assessment of the Injured Player
Management and Treatment
Initial Phase
Returning to Sport
Prevention
Bibliography
Chapter 689: Cervical Spinal Injuries
Soft-Tissue Injury
Spear Tackler’s Spine
Cervical Fractures
Stingers (Burners)
Transient Quadriparesis
Congenital Spinal Stenosis
Spinal Cord Injury
Bibliography
Chapter 690: Heat Injuries
Bibliography
Chapter 691: Female Athletes: Menstrual Problems and the Risk of Osteopenia
Bibliography
Chapter 692: Performance-Enhancing Aids
Bibliography
Chapter 693: Specific Sports and Associated Injuries
Gymnastics
Swimming
Baseball
Dance
Wrestling
Football
Ice Hockey
Basketball and Volleyball
Running
Soccer
Tennis
Skiing and Snowboarding
Cheerleading
Skateboarding
Bibliography
Section 3: The Skeletal Dysplasias
Chapter 694: General Considerations
Clinical Manifestations
Growth
Non–Growth-Related Manifestations
Family and Reproductive History
Radiographic Features
Diagnosis
Molecular Genetics
Pathophysiology
Treatment
Bibliography
Chapter 695: Disorders Involving Cartilage Matrix Proteins
Spondyloepiphyseal Dysplasias
Lethal Spondyloepiphyseal Dysplasias
Spondyloepiphyseal Dysplasia Congenita
Kniest Dysplasia
Late-Onset Spondyloepiphyseal Dysplasia
Aggrecan-Related Spondyloepiphyseal Dysplasias
Stickler Syndrome/Dysplasia (Hereditary Osteoarthroophthalmopathy)
Schmid Metaphyseal Dysplasia
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia
Bibliography
Chapter 696: Disorders Involving Transmembrane Receptors
Achondroplasia Group
Thanatophoric Dysplasia
Achondroplasia
Diagnosis
Clinical Manifestations
Genetics
Hypochondroplasia
Jansen Metaphyseal Dysplasia
Bibliography
Chapter 697: Disorders Involving Ion Transporters
Diastrophic Dysplasia
Achondrogenesis Type 1B and Atelosteogenesis Type II
Bibliography
Chapter 698: Disorders Involving Transcription Factors
Campomelic Dysplasia
Cleidocranial Dysplasia
Nail-Patella Syndrome
Bibliography
Chapter 699: Disorders Involving Defective Bone Resorption
Osteopetrosis
Clinical Manifestations
Treatment
Pyknodysostosis
Bibliography
Chapter 700: Disorders for Which Defects Are Poorly Understood or Unknown
Ellis–Van Creveld Syndrome
Asphyxiating Thoracic Dystrophy (see also Chapter 417.3)
Short-Rib Polydactyly Syndromes
Cartilage-Hair Hypoplasia
Metatropic Dysplasia
Spondylometaphyseal Dysplasia, Kozlowski Type
Disorders Involving Filamins
Juvenile Osteochondroses
Caffey Disease (Infantile Cortical Hyperostosis)
Fibrodysplasia Ossificans Progressive
Bibliography
Chapter 701: Osteogenesis Imperfecta
Etiology
Epidemiology
Pathology
Pathogenesis
Clinical Manifestations
Osteogenesis Imperfecta Type I (Mild)
Osteogenesis Imperfecta Type II (Perinatal Lethal)
Osteogenesis Imperfecta Type III (Progressive Deforming)
Osteogenesis Imperfecta Type IV (Moderately Severe)
Osteogenesis Imperfecta Type V (Hyperplastic Callus) and Type VI Hyperosteoidosis (Mineralization Defect)
Osteogenesis Imperfecta Types VII, VIII, and IX (Autosomal Recessive)
Osteogenesis Imperfecta Types X and XI (Autosomal Recessive)
High Bone Mass Osteogenesis Imperfecta (Cleavage of the Procollagen C-Propeptide)
Other Genes for Osteogenesis Imperfecta
Laboratory Findings
Complications
Treatment
Prognosis
Genetic Counseling
Bibliography
Chapter 702: Marfan Syndrome
Epidemiology
Pathogenesis
Clinical Manifestations
Skeletal System
Cardiovascular System
Ocular System
Other Systems
Diagnosis
Differential Diagnosis
Aortic Aneurysm Syndromes
Ectopia Lentis Syndromes
Syndromes with Systemic Manifestations of Marfan Syndrome
Laboratory Findings
Management
Current Therapies
Activity Restrictions
Aortic Surgery
Pregnancy
Endocarditis Prophylaxis
Current Pharmacologic Approaches
Emerging Therapeutic Strategies
Angiotensin II Receptor Type 1 Blockers
Prognosis
Genetic Counseling
Bibliography
Section 4: Metabolic Bone Disease
Chapter 703: Bone Structure, Growth, and Hormonal Regulation
Bibliography
Chapter 704: Primary Chondrodystrophy (Metaphyseal Dysplasia)
Bibliography
Chapter 705: Hypophosphatasia
Bibliography
Chapter 706: Hyperphosphatasia
Bibliography
Chapter 707: Osteoporosis
Bibliography
Part XXXIII: Rehabilitation Medicine
Chapter 708: Principles of Rehabilitation Medicine
Epidemiology
Approach
Scope of Practice
Prevention of Muscle Weakness
Other Assist Devices
Bibliography
Chapter 709: Evaluation of the Child for Rehabilitative Services
Child Characteristics
Family Characteristics
The Physical Environment
The Previously Healthy Child
Chapter 710: Severe Traumatic Brain Injury
Etiology
Pathophysiology
Acute Rehabilitation
Outcomes Associated with Severe Traumatic Brain Injury
Pediatric Traumatic Brain Injury and Plasticity
Bibliography
Chapter 711: Spinal Cord Injury and Autonomic Crisis Management
Evaluation
Clinical Manifestations
Prognosis
Bibliography
Chapter 712: Spasticity
Oral Medications
GABAergic Medications
α2-Adrenergic Agents
Peripherally Acting Calcium Blockers
Surgical Management
Bibliography
Chapter 713: Birth Brachial Plexus Palsy
Physical Examination
Laboratory Examination
Treatment
Bibliography
Chapter 714: Traumatic and Sports-Related Injuries of the Lower Extremity
Chapter 715: Meningomyelocele (Spina Bifida)
Etiology
Prevention
Prenatal Screening
Clinical Implications
Adolescence and Transition Into Adulthood
Bibliography
Chapter 716: Ambulation Assistance
Orthoses
Prostheses
Assistive Devices
Wheelchairs
Bibliography
Chapter 717: Health and Wellness for Children with Disabilities
Health Promotion Definitions and Background for Disability
Anticipatory Guidance, Counseling, and Preventive Care
Physical Activity and Exercise
Nutrition and Obesity
Emotional Health and Leisure Activities
Dental Care
Role of Healthcare Providers
Bibliography
Part XXXIV: Environmental Health Hazards
Chapter 718: Biologic Effects of Radiation on Children
Basic Principles
Biologic Effects of Radiation
Decreasing Unnecessary Diagnostic Radiation in Children While Still Obtaining Diagnostic Images
Reducing Radiation from the CT Examination
Radiation Therapy—Acute and Late Effects
Whole-Body Irradiation
Uncontrolled Large- or Small-Scale Exposure to Radiation
Clinical Manifestations
Treatment
Localized Irradiation
Clinical Manifestations
Treatment
Internal Contamination
Epidemiology
Clinical Manifestations
Treatment
External Contamination
Bibliography
Chapter 719: Chemical Pollutants
Synthetic Chemicals and Human Health
Children’s Unique Susceptibility to Synthetic Chemicals
Safety Testing of Synthetic Chemicals
Synthetic Chemicals and Disease in Children
Chemical Pollutants of Major Concern
Air Pollutants
Oil Spill Hazards
Lead
Mercury
Asbestos
Second-Hand Tobacco Smoke
Pesticides
Polychlorinated Biphenyls, DDT, Dioxins, Brominated Flame Retardants, and Other Halogenated Hydrocarbons
Endocrine Disruptors
Environmental Carcinogens
Routes of Exposure
Transplacental.
Water.
Air.
Food.
Work Clothes.
Schools.
Child Labor.
The Physician’s Role
Bibliography
Chapter 720: Heavy Metal Intoxication
Arsenic
Epidemiology
Pharmacokinetics
Pathophysiology
Clinical Manifestations
Laboratory Findings
Mercury
Epidemiology
Pharmacokinetics
Pathophysiology
Clinical Manifestations
Laboratory Findings
Treatment of Arsenic and Mercury Intoxication
Bibliography
Chapter 721: Lead Poisoning
Public Health History
Sources of Exposure
Metabolism
Clinical Effects
Clinical Symptoms
Gastrointestinal Tract and Central Nervous System
Diagnosis
Screening
Treatment
Bibliography
Chapter 722: Nonbacterial Food Poisoning
722.1 Mushroom Poisoning
Gastrointestinal: Delayed Onset
Amanita Poisoning
Treatment
Monomethylhydrazine Intoxication
Treatment
Renal: Delayed Onset
Orellanine Poisoning
Treatment
Autonomic Nervous System: Rapid Onset
Muscarine Poisoning
Treatment
Coprine Ingestion
Central Nervous System: Rapid Onset
Isoxazole Intoxication
Indole Intoxication
Gastrointestinal: Rapid Onset
Bibliography
722.2 Solanine Poisoning
Bibliography
722.3 Seafood Poisoning
Ciguatera Fish Poisoning
Treatment
Scombroid (Pseudoallergic) Fish Poisoning
Treatment
Paralytic Shellfish Poisoning
Treatment
Neurotoxic Shellfish Poisoning
Treatment
Diarrhetic Shellfish Poisoning
Amnesic Shellfish Poisoning
Azaspiracid Poisoning
Bibliography
Ciguatera Fish Poisoning
Scombroid Fish Poisoning
Shellfish Poisoning
Fish Poisoning
722.4 Melamine Poisoning
Bibliography
Chapter 723: Biologic and Chemical Terrorism
Etiology
Epidemiology and Pediatric-Specific Concerns
Clinical Manifestations
Sudden-Onset Neuromuscular Syndrome: Nerve Agents
Delayed-Onset Neuromuscular Syndrome: Botulism
Sudden-Onset Respiratory Syndrome: Chlorine, Phosgene, and Cyanide
Delayed-Onset Respiratory Syndrome: Anthrax, Plague, Tularemia, and Ricin
Sudden-Onset Dermatologic Syndrome: Mustard and Lewisite
Delayed-Onset Dermatologic Syndrome: Smallpox
Diagnosis
Prevention
Treatment
Bibliography
Chapter 724: Animal and Human Bites
Epidemiology
Clinical Manifestations
Diagnosis
Complications
Treatment
Prevention
Bibliography
724.1 Rat Bite Fever
Etiology
Clinical Course
Diagnosis
Treatment
Bibliography
724.2 Monkeypox
Etiology
Clinical Course
Treatment
Bibliography
Chapter 725: Envenomations
General Approach to the Envenomated Child
General Management
Antivenom Administration
General Wound Care
Snake Bites
Venoms and Effects
Management
Disposition
Spider Bites
Neurotoxic Spiders
Venoms and Effects
Management
Disposition
Necrotizing Spiders
Venoms and Effects
Management
Disposition
Scorpion Stings
Venoms and Effects
Management
Disposition
Hymenoptera Stings
Venoms and Effects
Management
Disposition
Marine Envenomation
Venoms and Effects
Management
Disposition
Bibliography
Part XXXV: Laboratory Testing in Infants and Children
Chapter 726: Laboratory Testing in Infants and Children
Accuracy and Precision of Laboratory Tests
Sensitivity, Accuracy, and Analytic Testing
Predictive Value of Laboratory Tests
Neonatal Screening Tests
Testing in Refining a Differential Diagnosis
Serologic Testing
Laboratory Screening
Acknowledgments
Bibliography
Chapter 727: Reference Intervals for Laboratory Tests and Procedures
Bibliography (for Table 727-5)