Pediatrics: Merck Manual Professional

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Pediatrics

	Introduction

Approach to the Care of Normal Infants and Children

Evaluation and Care of the Normal Neonate
	The First Few Hours
	The First Few Days
		Physical Examination
			Cardiorespiratory system
			Head and neck
			Abdomen and pelvis
			Musculoskeletal system
			Neurologic system
			Skin
		Screening
		Routine Care and Observation
		Hospital Discharge
Nutrition in Infants
			Feeding problems
	Breastfeeding
		Technique
		Infant Complications
		Maternal Complications
		Drugs
		Weaning
	Formula Feeding
	Solid Foods
Health Supervision of the Well Child
	Physical Examination
			Growth
			Blood pressure
			Head
			Heart
			Abdomen
			Spine and extremities
			Genital examination
	Screening
			Blood tests
			Hearing tests
			Other screening tests
	Prevention
			Safety
			Nutrition
			Exercise
Vaccination in Children
			Effectiveness of vaccination
			Vaccination schedule
Colic
		Evaluation
			History and physical examination
			Testing
		Treatment
Constipation in Children
		Etiology
			Organic
			Functional
		Evaluation
			History
			Physical examination
			Interpretation of findings
			Red flags
			Testing
		Treatment
		Key Points
Cough in Children
		Etiology
		Evaluation
			History
			Physical examination
			Red flags
			Interpretation of findings
			Testing
		Treatment
		Key Points
Crying
		Etiology
			Organic
		Evaluation
			History
			Physical examination
			Red flags
			Interpretation of findings
			Testing
		Treatment
		Key Points
Diarrhea in Children
		Pathophysiology
		Etiology
		Evaluation
			History
			Physical examination
			Red flags
			Interpretation of findings
			Testing
		Treatment
			Rehydration
		Key Points
Fever in infants and Children
		Pathophysiology
		Etiology
			Acute
			Chronic
		Evaluation
			History
			Physical examination
			Red flags
			Interpretation of findings
			Testing
		Treatment
			Things to avoid
		Key Points
Nausea and Vomiting in Infants and Children
		Pathophysiology
		Etiology
			Infants
		Evaluation
			History
			Physical examination
			Red flags
			Testing
		Treatment
		Key Points
Separation and Stranger Anxiety
			Separation anxiety
			Stranger anxiety
Sleeping in Infants and Children
		Evaluation
			History
			Physical examination and testing
		Treatment
Toilet Training

Approach to the Care of Adolescents

	Approach to the Care of Adolescents
			Physical Growth
			Sexuality
			Intellectual Growth
			Emotional Growth
			Physical Problems
			Psychosocial Disorders

Caring for Sick Children and Their Families

	Sick Neonates
	Children with Chronic Health Conditions
				Effects on the children
				Effects on the family
				Care coordination
	Death and Dying in Children
				Death of a child
				Death of a family member or friend

Growth and Development


	Physical Growth of Infants and Children
			Length
			Weight
			Head Circumference
			Body Composition
			Tooth Eruption
	Childhood Development
			Motor Development
			Language Development
			Cognitive Development
			Emotional and Behavioral Development
	Physical Growth and Sexual Maturation of Adolescents
			Physical Growth
			Sexual Maturation
	Adolescent Development
			Intellectual and Behavioral Development
			Emotional Development
			Social and Psychologic Development
			Sexuality

Principles of Drug Treatment in Children

	Overview of Drug Treatment in Children
				Adverse effects and toxicity
	Pharmacokinetics in Children
				Absorption
				Distribution
				Metabolism and elimination
				Drug dosing
	Nonadherence in Children

Perinatal Physiology

	Perinatal Physiology
				Bilirubin metabolism
				Cardiovascular function
				Endocrine function
				Hematopoietic function
				Immunologic function
				Pulmonary function
				Renal function

Perinatal Problems

Overview of Perinatal Problems
Neonatal Resuscitation
			Assessment
			Resuscitation
Birth Injuries
	Head Injuries
	Cranial Nerve Injury
	Brachial Plexus Injuries
	Other Peripheral Nerve Injuries
	Spinal Cord Injury
	Intracranial Hemorrhage
		Diagnosis
		Prognosis
		Treatment
	Fractures
	Soft-Tissue Injuries
Hypothermia in Neonates
		Pathophysiology
		Treatment
		Prevention
Large-for-Gestational-Age(LGA) Infant
		Symptoms, Signs, and Treatment
			Delivery complications
			Infants of diabetic mothers
Postmature Infant
		Pathophysiology
		Symptoms and Signs
		Diagnosis
		Treatment
Premature Infant
		Etiology
		Symptoms and Signs
		Diagnosis
			Initial testing
			Subsequent screening
		Complications
			Lungs
			CNS
			Infection
			Cardiac
			Temperature regulation
			GI tract
			Kidneys
			Eyes
			Metabolic problems
		Prognosis
		Treatment
			Feeding
		Prevention
Retinopathy of Prematurity
		Diagnosis
		Prognosis
		Treatment
		Prevention
Small-for-Gestational-Age (SGA) Infant
		Etiology
		Symptoms and Signs
			Complications
		Prognosis
		Treatment

Perinatal Hematologic Disorders Metabolic, Electrolyte, and Toxic Disorders in Neonates

Neonatal Hyperbilirubinemia
			Consequences of hyperbilirubinemia
		Pathophysiology
			Mechanisms of hyperbilirubinemia
		Etiology
			Classification
			Causes
		Evaluation
			History
			Physical examination
			Red flags
			Interpretation of findings
			Timing
			Testing
		Treatment
			Phototherapy
			Exchange transfusion
		Key Points
	Kernicterus
Neonatal Hypercalcemia
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Neonatal Hypocalcemia
		Etiology
			Early-onset hypocalcemia
			Late-onset hypocalcemia
		Symptoms and Signs
		Diagnosis
		Treatment
Neonatal Hyperglycemia
		Treatment
Neonatal Hypoglycemia
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Neonatal Hypernatremia
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
		Prevention
Neonatal Hyponatremia
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Prenatal Drug Exposure
			Alcohol
			Amphetamines
			Barbiturates
			Cocaine
			Marijuana
			Opioids

Gastrointestinal Disorders in Neonates and Infants

Overview of GI Disorders in Neonates and Infants
Hypertrophic Pyloric Stenosis
		Symptoms and Signs
		Diagnosis
		Treatment
Intussusception
		Symptoms and Signs
		Diagnosis
		Treatment
Meconium Ileus
		Symptoms and Signs
		Diagnosis
		Treatment
	Meconium Plug Syndrome
		Symptoms and Signs
		Diagnosis
		Treatment
Necrotizing Enterocolitis
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
			Support
			Surgery
			Prevention
Neonatal Cholestasis
		Etiology
		Pathophysiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
Miscellaneous Surgical Emergencies in Neonates
			Inguinal hernia
			Gastric perforation
			Ileal perforation
			Mesenteric arterial occlusion

Dehydration and Fluid Therapy in Children Respiratory Disorders in Neonates, Infants, and Young Children

Overview of Perinatal Respiratory Disorders
	Etiology
	Physiology
	Evaluation
Respiratory Support in Neonates and Infants
		Oxygen
		Continuous positive airway pressure
		Mechanical ventilation
		Complications
		Extracorporeal membrane oxygenation (ECMO)
Apnea of Prematurity
	Pathophysiology
	Diagnosis
	Prognosis
	Treatment
	Prevention
Bronchopulmonary Dysplasia (BPD)
	Etiology
	Diagnosis
	Prognosis
	Treatment
	Prevention
Meconium Aspiration Syndrome
	Etiology
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
Persistent Pulmonary Hypertension of the Newborn
	Etiology
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
Pulmonary Air-Leak Syndromes
		Pulmonary interstitial emphysema
		Pneumomediastinum
		Pneumopericardium
		Pneumoperitoneum
		Pneumothorax
Respiratory Distress Syndrome
	Etiology
	Pathophysiology
		Complications
	Symptoms and Signs
	Diagnosis
	Treatment
	Prevention
Transient Tachypnea of the Newborn
Bacterial Tracheitis
Bronchiolitis
	Etiology
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
Croup
	Etiology
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment

Cystic Fibrosis (CF) Infections in Neonates

Overview of Neonatal Infections
			Risk factors
		Symptoms and Signs
		Diagnosis
		Treatment
Congenital and Perinatal Cytomegalovirus Infection (CMV)
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
		Prevention
Congenital Rubella
		Symptoms and Signs
		Diagnosis
		Treatment
		Prevention
Congenital Syphilis
		Symptoms and Signs
		Diagnosis
			Early congenital syphilis
			Late congenital syphilis
			Follow up
		Treatment
			Pregnant women
			Early congenital syphilis
			Older infants and children with newly diagnosed congenital syphilis
		Prevention
Congenital Toxoplasmosis
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
		Prevention
Neonatal Conjunctivitis
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
		Prevention
Neonatal Hepatitis B Virus Infection
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
		Prevention
Neonatal Herpes Simplex Virus (HSV) Infection
		Symptoms and Signs
			Localized disease
			Disseminated disease
		Diagnosis
		Prognosis
		Treatment
		Prevention
Neonatal Hospital-Acquired Infection
		Etiology
		Prevention
Neonatal Listeriosis
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
		Prevention
Neonatal Bacterial Meningitis
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
			Empiric antibiotic therapy
			Organism-specific antibiotic therapy
			Adjunctive measures
Neonatal Pneumonia
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
	Chlamydial Pneumonia
Neonatal Sepsis
		Etiology
			Early onset
			Late onset
			Early and late onset
		Pathophysiology
			Early onset
			Late onset
		Symptoms and Signs
		Diagnosis
			CBC, differential, and smear
			Lumbar puncture
			Blood cultures
			Urinalysis and culture
			Other tests for infection and inflammation
		Prognosis
		Treatment
			Antimicrobials
			Other treatment
		Prevention
Perinatal Tuberculosis (TB)
		Symptoms and Signs
		Diagnosis
		Treatment
			Pregnant women with a positive tuberculin test
			Neonates with a positive tuberculin test
			Pregnant women with active TB
			Asymptomatic neonates of women with active TB
			Neonates with active TB
		Prevention

Miscellaneous Infections in Infants and Children Rheumatic Fever Endocrine Disorders in Children

Congenital Goiter
		Etiology
			Dyshormonogenesis
			Transplacental passage of maternal antibodies
			Transplacental passage of goitrogens
		Symptoms and Signs
		Diagnosis
		Treatment
Hypothyroidism
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Hyperthyroidism
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Congenital Adrenal Hyperplasia
	21-Hydroxylase Deficiency
		Symptoms and Signs
		Diagnosis
		Treatment
	11β-Hydroxylase Deficiency
		Symptoms and Signs
		Diagnosis
		Treatment
Male Hypogonadism in Children
		Classification
			Primary
			Secondary
		Symptoms and Signs
		Diagnosis
		Treatment
Delayed Puberty
Precocious Puberty
		Etiology
			GnRH-dependent precocious puberty
			GnRH-independent precocious puberty
		Symptoms and Signs
		Diagnosis
		Treatment

Neurologic Disorders in Children Connective Tissue Disorders in Children Bone Disorders in Children

Introduction
Congenital Hypophosphatasia
Idiopathic Scoliosis
		Symptoms and Signs
		Diagnosis
		Treatment
Osteochondroses
	Infrapatellar Tendinitis
	Köhler's Bone Disease
	Legg-Calvé-Perthes Disease
		Diagnosis
		Treatment
	Osgood-Schlatter Disease
		Diagnosis
		Treatment
	Scheuermann's Disease
		Diagnosis
		Treatment
Osteopetroses
	Craniotubular Dysplasias
			Metaphyseal dysplasia (Pyle's disease)
			Craniometaphyseal dysplasia
			Frontometaphyseal dysplasia
	Craniotubular Hyperostoses
			Endosteal hyperostosis (van Buchem's syndrome)
			Sclerosteosis
			Diaphyseal dysplasia (Camurati-Engelmann disease)
	Osteosclerosis
			Osteopetrosis with delayed manifestations (Albers-Schönberg disease)
			Osteopetrosis with precocious manifestations
			Osteopetrosis with renal tubular acidosis
			Pyknodysostosis
Slipped Capital Femoral Epiphysis (SCFE)
		Symptoms and Signs
		Diagnosis
		Treatment

Juvenile Idiopathic Arthritis

	Juvenile Idiopathic Arthritis (JIA)
			Classification
			Symptoms and Signs
			Diagnosis
			Prognosis
			Treatment
			Key Points

Pediatric Cancers Miscellaneous Disorders in Infants and Children

Apparent Life-Threatening Event (ALTE)
	Etiology
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
	Key Points
Failure to Thrive (FTT)
	Etiology
		Organic FTT
		Nonorganic FTT
		Mixed FTT
	Diagnosis
		Testing
	Prognosis
	Treatment
	Key Points
Hemorrhagic Shock and Encephalopathy Syndrome (HSES)
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
Kawasaki Disease (KD)
	Etiology
	Symptoms and Signs
	Diagnosis
	Prognosis
	Treatment
	Key Points
Progeria
		Other progeroid syndromes
Reye's Syndrome
	Symptoms and Signs
		Complications
	Diagnosis
		Differential diagnosis
	Prognosis
	Treatment
	Key Points
Sudden Infant Death Syndrome (SIDS)
	Etiology
		Risk factors
	Diagnosis
	Management
	Prevention
	Key Points

Congenital Cardiovascular Anomalies

Overview of Congenital Cardiovascular Anomalies
	Etiology
	Pathophysiology
		Left-to-right shunts
		Obstructive lesions
		Cyanotic heart anomalies
		Heart failure
	Symptoms and Signs
		Murmurs
		Cyanosis
		Heart failure
		Other manifestations
	Diagnosis
	Treatment
		Heart failure in neonates
		Heart failure in older infants and children
		Endocarditis prophylaxis
Atrial Septal Defect (ASD)
		Classification
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
Ventricular Septal Defect (VSD)
		Classification
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
Atrioventricular Septal Defect
		Complete AV septal defect
		Partial AV septal defect
	Symptoms and Signs
	Diagnosis
	Treatment
Patent Ductus Arteriosus (PDA)
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
Coarctation of the Aorta
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
Tetralogy of Fallot
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
		Tet spells
		Definitive management
Transposition of the Great Arteries
	Pathophysiology
	Symptoms and Signs
	Diagnosis
	Treatment
Tricuspid Atresia
	Symptoms and Signs
	Diagnosis
	Treatment
Hypoplastic Left Heart Syndrome
	Symptoms and Signs
	Diagnosis
	Treatment
Total Anomalous Pulmonary Venous Return (TAPVR)
	Symptoms and Signs
	Diagnosis
	Treatment
Persistent Truncus Arteriosus
		Classification
	Symptoms and Signs
	Diagnosis
	Treatment
Eisenmenger's Syndrome
	Symptoms and Signs
	Diagnosis
	Treatment
Other Less Common Congenital Cardiac Anomalies
		Single ventricle spectrum
		Pulmonary atresia with intact septum
		Double outlet right ventricle
		Ebstein's anomaly
		Congenitally corrected transposition

Congenital Craniofacial and Musculoskeletal Abnormalities

Introduction
Arthrogryposis Multiplex Congenita
	Etiology
	Symptoms and Signs
	Diagnosis
	Treatment
Congenital Amputations
	Treatment
Craniofacial Abnormalities
		Cleft palate and cleft lip
		Deformities characterized by a small mandible
		Agenesis of the jaw
		Congenital ear malformations
Hip, Leg, and Foot Abnormalities
		Developmental dysplasia of the hip (DDH—formerly congenital dislocation of the hip)
		Femoral torsion (twisting)
		Genu varum and genu valgum
		Knee dislocation
		Tibial torsion
		Talipes equinovarus
		Talipes calcaneovalgus
		Metatarsus adductus
		Metatarsus varus
Muscle Abnormalities
Neck and Back Abnormalities
		Congenital torticollis
		Vertebral defects

Congenital Gastrointestinal Anomalies

Overview of Congenital GI Anomalies
		High Alimentary Tract Obstruction
		Jejunoileal and Large-Bowel Obstruction
		Defects in Abdominal Wall Closure
Esophageal Atresia
		Diagnosis
		Treatment
		Key Points
Diaphragmatic Hernia
		Symptoms and Signs
		Diagnosis
		Treatment
		Key Points
Duodenal Obstruction
			Duodenal atresia
			Duodenal stenosis
			Choledochal cyst or annular pancreas
Jejunoileal Atresia
		Treatment
Malrotation of the Bowel
Intestinal Duplication
Hirschsprung Disease
		Symptoms and Signs
		Diagnosis
		Treatment
		Key Points
	Hirschsprung Enterocolitis
Anal Atresia
Omphalocele
Gastroschisis

Congenital Renal and Genitourinary Anomalies

Overview of Congenital Genitourinary Anomalies
Renal Anomalies
			Renal agenesis
			Autosomal recessive polycystic kidney disease
			Duplication anomalies
			Fusion anomalies
			Malrotation
			Multicystic dysplastic kidney
			Renal dysplasia
			Renal ectopia
			Renal hypoplasia
Ureteral Anomalies
			Duplication anomalies
			Ectopic orifices
			Retrocaval ureter
			Stenosis
			Ureterocele
	Vesicoureteral Reflux
		Etiology
		Pathophysiology
		Symptoms and Signs
		Diagnosis
		Treatment
			Monitoring
Bladder Anomalies
			Bladder diverticula
			Exstrophy
			Megacystis syndrome
Penile and Urethral Anomalies
			Chordee
			Epispadias
			Hypospadias
			Phimosis and paraphimosis
			Other penile anomalies
			Urethral meatal stenosis
			Urethral stricture
			Urethral valves
Vaginal Anomalies
Testicular and Scrotal Anomalies
			Congenital hydrocele
	Cryptorchidism
		Pathophysiology
			Complications
		Etiology
		Symptoms and Signs
		Diagnosis
		Treatment
Prune-Belly Syndrome

Congenital Renal Transport Abnormalities Congenital Neurologic Anomalies Eye Defects and Conditions in Children

	Amblyopia
			Etiology
			Symptoms and Signs
			Diagnosis
			Prognosis
			Treatment
			Key Points
	Congenital Cataract
	Primary Infantile Glaucoma
	Strabismus
			Classification
			Etiology
			Symptoms and Signs
			Diagnosis
			Prognosis
			Treatment
			Key Points

Chromosomal Anomalies

Overview of Chromosomal Anomalies
		Diagnosis
Down Syndrome
		Etiology
		Pathophysiology
		Symptoms and Signs
		Diagnosis
			Concomitant medical conditions
		Treatment
		Key Points
Trisomy 18
		Symptoms and Signs
		Diagnosis
		Treatment
Trisomy 13
		Diagnosis
		Treatment
Chromosomal Deletion Syndromes
			5p-Deletion (cri du chat syndrome)
			4p-Deletion (Wolf-Hirschhorn syndrome)
			Subtelomeric deletions
Contiguous Gene Syndromes
Sex Chromosome Anomalies
			Lyon hypothesis (X-inactivation)
	Turner Syndrome
		Pathophysiology
		Symptoms and Signs
		Diagnosis
			Concomitant medical conditions
		Treatment
		Key Points
	Klinefelter Syndrome (47,XXY)
	47,XYY Syndrome
	Other X Chromosome Anomalies
Fragile X Syndrome
		Symptoms and Signs
		Diagnosis
		Treatment

Inherited Muscular Disorders

Muscular Dystrophies
	Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
		Symptoms and Signs
			Duchenne dystrophy
			Becker dystrophy
		Diagnosis
		Treatment
		Key Points
	Other Forms of Muscular Dystrophy
			Emery-Dreifuss dystrophy
			Myotonic dystrophy
			Limb-girdle dystrophy
			Facioscapulohumeral muscular dystrophy
			Congenital muscular dystrophy
Congenital Myopathies
			Nemaline myopathy
			Myotubular myopathy
			Core myopathies
			Congenital fiber type disproportion myopathy
Familial Periodic Paralysis
		Symptoms and Signs
			Hypokalemic
			Hyperkalemic
			Thyrotoxic
			Andersen-Tawil syndrome
		Diagnosis
		Treatment
			Hypokalemic
			Hyperkalemic
			Thyrotoxic
			Andersen-Tawil syndrome
		Key Points

Inherited Disorders of Metabolism

Introduction
Approach to the Patient With a Suspected Inherited Disorder of Metabolism
		Evaluation
			History and physical examination
			Testing
Amino Acid and Organic Acid Metabolism Disorders
	Phenylketonuria (PKU)
		Pathophysiology
			Variant forms
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
	Disorders of Tyrosine Metabolism
			Transient tyrosinemia of the newborn
			Tyrosinemia type I
			Tyrosinemia type II
			Alkaptonuria
			Oculocutaneous albinism
	Disorders of Branched-Chain Amino Acid Metabolism
			Maple syrup urine disease
			Isovaleric acidemia
			Propionic acidemia
			Methylmalonic acidemia
	Disorders of Methionine Metabolism
			Classic homocystinuria
			Other forms of homocystinuria
			Cystathioninuria
			Sulfite oxidase deficiency
	Urea Cycle Disorders
		Symptoms and Signs
		Diagnosis
		Treatment
Carbohydrate Metabolism Disorders
	Glycogen Storage Diseases
	Galactosemia
			Galactose-1-phosphate uridyl transferase deficiency
			Galactokinase deficiency
			Uridine diphosphate galactose 4-epimerase deficiency
		Diagnosis
		Treatment
	Disorders of Fructose Metabolism
			Fructose 1-phosphate aldolase (aldolase B) deficiency
			Fructokinase deficiency
			Deficiency of fructose-1,6-bisphosphatase
	Disorders of Pyruvate Metabolism
			Pyruvate dehydrogenase deficiency
			Pyruvate carboxylase deficiency
	Other Disorders of Carbohydrate Metabolism
Fatty Acid and Glycerol Metabolism Disorders
	Disorders of the β-Oxidation Cycle
			Medium-chain acyl dehydrogenase deficiency (MCADD)
			Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
			Very long-chain acyl-coA dehydrogenase deficiency (VLCADD)
			Glutaric acidemia type II
	Disorders of Glycerol Metabolism
Lysosomal Storage Disorders
			Mucopolysaccharidoses (MPS)
			Sphingolipidoses
	Gaucher's Disease
		Diagnosis
		Treatment
	Niemann-Pick Disease
		Diagnosis
		Treatment
	Tay-Sachs Disease and Sandhoff's Disease
			Tay-Sachs disease
			Sandhoff's disease
	Krabbe's Disease
	Metachromatic Leukodystrophy
	Fabry's Disease
	Cholesteryl Ester Storage Disease and Wolman's Disease
Mitochondrial Oxidative Phosphorylation Disorders
			Leber's hereditary optic neuropathy (LHON)
			Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
			Myoclonic epilepsy with ragged-red fibers (MERRF)
			Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO)
			Neurogenic muscle atrophy and retinitis pigmentosa (NARP) and Leigh disease
Peroxisomal Disorders
			Zellweger syndrome (ZS), neonatal adrenoleukodystrophy, and infantile Refsum's disease (IRD)
			Rhizomelic chondrodysplasia punctata
			X-linked adrenoleukodystrophy
			Classic Refsum's disease
Purine and Pyrimidine Metabolism Disorders
	Disorders of Purine Salvage
			Lesch-Nyhan syndrome
			Adenine phosphoribosyltransferase deficiency
	Disorders of Purine Nucleotide Synthesis
			Phosphoribosylpyrophosphate synthetase superactivity
			Adenylosuccinase deficiency
	Disorders of Purine Catabolism
			Myoadenylate deaminase deficiency (or muscle adenosine monophosphate deaminase deficiency)
			Adenosine deaminase deficiency
			Purine nucleoside phosphorylase deficiency
			Xanthine oxidase deficiency
	Disorders of Pyrimidine Metabolism
			Uridine monophosphate synthase deficiency (hereditary orotic aciduria)

Hereditary Periodic Fever Syndromes

	Overview of Hereditary Periodic Fever Syndromes
	Familial Mediterranean Fever
			Etiology
			Symptoms and Signs
			Diagnosis
			Treatment
			Key Points
	Hyper-IgD Syndrome
	TNF Receptor–Associated Periodic Syndrome (TRAPS)
			Diagnosis
			Treatment
	Hereditary Cryopyrinopathies
	PAPA Syndrome
	PFAPA Syndrome
			Diagnosis
			Treatment

Behavioral Concerns and Problems in Children Learning and Developmental Disorders Mental Disorders in Children and Adolescents

Overview of Mental Disorders in Children
		Evaluation
Anxiety Disorders in Children and Adolescents
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
	Generalized Anxiety Disorder
		Symptoms and Signs
		Diagnosis
		Treatment
	Social Phobia
		Treatment
	Separation Anxiety Disorder
		Symptoms and Signs
		Diagnosis
		Treatment
	Obsessive-Compulsive Disorder (OCD)
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
	Panic Disorder and Agoraphobia
		Diagnosis
		Prognosis
		Treatment
	Acute and Posttraumatic Stress Disorders (PTSD)
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
TIC Disorders in Children and Adolescents
Childhood Schizophrenia
Depressive Disorders in Children and Adolescents
		Symptoms and Signs
		Diagnosis
		Treatment
Bipolar Disorder in Children and Adolescents
		Etiology
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
Disruptive Behavioral Disorders
	Oppositional Defiant Disorder
		Symptoms and Signs
		Diagnosis
		Treatment
	Conduct Disorder
		Symptoms and Signs
		Diagnosis
		Prognosis
		Treatment
Suicidal Behavior in Children and Adolescents
		Etiology
		Treatment
		Prevention
	Self-Injurious Behavior

Child Maltreatment Incontinence in Children Neurocutaneous Syndromes Human Immunodeficiency Virus (HIV) Infection in Infants and Children

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