Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics

Cover
Front Matter
Copyright
Dedication
Contributors
Preface
Table of Contents
Section 1: Symptom-Based Diagnosis
Chapter 1: Disease Mimics: An Approach to Undiagnosed Diseases
Diagnosis: It All Starts with a Symptom
Diagnosis as an Iterative Process
History
Physical Examination
Pretest Probability
Sensitivity
Specificity
Likelihood Ratio
Diagnostic Error
The Well-Calibrated Diagnostician
Bibliography
Section 2: Respiratory Disorders
Chapter 2: Sore Throat
Viral Pharyngitis
Infectious Mononucleosis
Pathogenesis
Clinical Features
Diagnosis
Bacterial Pharyngitis
Group A Streptococcal Infection
Epidemiology
Clinical Features
Scarlet Fever
Diagnosis
Treatment
Suppurative Complications
Nonsuppurative Sequelae
Treatment Failure and Chronic Carriage
Recurrent Acute Pharyngitis
Fusobacterium necrophorum
Arcanobacterium Infection
Epiglottitis and Bacterial Tracheitis
Diphtheria
Pathogenesis
Clinical Features
Diagnosis
Gonococcal Pharyngitis
Chlamydial and Mycoplasmal Infections
Oral-Pharyngeal Facial Space Pain
Bibliography
Chapter 3: Cough
Introduction
Pathophysiology
History
Demographics
Characteristics of the Cough
Associated Symptoms
Family and Patient’s Medical History
Physical Examination
Inspection
Fingers
Chest, abdomen, and spine
Palpation
Percussion
Auscultation
Diagnostic Studies
Radiography
Hematology/Immunology
Bacteriology/Virology
Other Tests
Differential Diagnosis and Treatment
Infection
Infections in infants
Viral upper respiratory infections
Croup (laryngotracheobronchitis)
Bronchiolitis
Viral pneumonia
Pertussis (whooping cough)
Chlamydial infection
Ureaplasmal infection
Bacterial pneumonia
Infections in toddlers and children
Viral URIs
Sinusitis
Protracted bacterial bronchitis
Pneumonia
Tuberculosis
Aspiration
Foreign Body
Gastroesophageal Reflux
Asthma
Cystic Fibrosis
Anatomic Abnormalities
Vascular rings and slings
Pulmonary sequestration
Congenital pulmonary airway malformation
Congenital lobar emphysema
Tracheoesophageal fistula
Hemangiomas
Enlarged lymph nodes
Bronchial stenosis
Bronchogenic cysts
Other rare causes of cough
Habit (Psychogenic) Cough
Other Causes of Cough
Bronchiectasis
Primary ciliary dyskinesia
Interstitial lung disease
Pulmonary hemosiderosis
Primary and metastatic tumors
Tracheomalacia and bronchomalacia
Spasmodic croup
Bronchiolitis obliterans
Hemoptysis
When Cough Itself Is a Problem
Bibliography
Chapter 4: Respiratory Distress
Diagnostic Approach
History
Physical Examination
Pulmonary Physical Examination
Other Parts of the Physical Examination
Laboratory Tests
Imaging
Radiography
Computed Tomography
Magnetic Resonance Imaging
Fluoroscopy
Endoscopy
Causes of Respiratory Distress
Wheezing
Asthma
Bronchiolitis
Mycoplasma pneumoniae Infections
Vocal Cord Dysfunction
Foreign Body Aspiration
Stridor
Croup
Bacterial Tracheitis
Epiglottitis
Laryngomalacia
Vocal Cord Paralysis
Vascular Rings
Subglottic Stenosis
Cough
Viral and Bacterial Pneumonia
Hypersensitivity Pneumonitis
Allergic Bronchopulmonary Aspergillosis
Other Causes of Respiratory Distress
Aspiration of Oropharyngeal Contents
Gastroesophageal Reflux
Pneumothorax
Pneumomediastinum
Cystic Fibrosis
Primary Ciliary Dyskinesia
Hemoptysis
Electronic Cigarette, or Vaping, Product Use–Associated Lung Injury
COVID-19
Cardiac
Neurologic
Other
Bibliography
Chapter 5: Earache
History
Physical Examination
Diagnostic Tests
Bacterial Cultures
Tympanometry
Acoustic Reflectometry
Diagnostic Imaging
Differential Diagnosis
Otitis Externa
Necrotizing (Malignant) Otitis Externa
Acute Otitis Media
Microbiology
Treatment
Patients with Persistent Symptoms
Recurrent Acute Otitis Media
Otitis Media with Effusion
Mastoiditis
Cholesteatoma
Intracranial Complications
Bibliography
Chapter 6: Apparent Life-Threatening Event-Brief Resolved Unexplained Event
Definition
Epidemiology
Etiology
Clinical Evaluation
History
Physical Examination
Diagnostic Evaluation
Differential Diagnosis by System
Gastrointestinal
Infectious Disease
Neurologic
Airway/Pulmonary
Child Maltreatment
Cardiac
Metabolic/Genetic
Bibliography
Section 3: Cardiac Disorders
Chapter 7: Syncope and Dizziness
Syncope
Neurocardiogenic Syncope
Orthostatic Syncope
Postural Orthostatic Tachycardia Syndrome
Cardiac Syncope/Sudden Cardiac Death
Neurologic Causes of Syncope-Like Episodes
Metabolic Causes of Syncope
Syncopal-Like Episdes in Infants and Toddlers
Psychiatric Causes of Syncope
Evaluation of the Syncopal Child
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Vertigo
Evaluation of the Patient with Vertigo
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Disequilibrium
Evaluation of the Patient with Disequilibrium
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Lightheadedness
Evaluation of the Patient with Lightheadedness
History
Physical Examination
Diagnostic Tests
Summary and Red Flags
Bibliography
Chapter 8: Chest Pain
Causes of Chest Pain
Approach to the Patient with Chest Pain
History
Musculoskeletal
Psychogenic
Gastrointestinal
Pulmonary
Cardiac
Other
COVID-19 and Multisystem Inflammatory Syndrome in Children
Physical Examination
Electrocardiogram
Further Diagnostic Testing
Treatment
Bibliography
Chapter 9: Murmurs
The Thorax
Origins of the Heart Sounds
The Cardiac Cycle
Changes in the Circulation at Birth
Normal Intracardiac Pressures
Pediatric Cardiovascular Evaluation
History
Symptoms and Signs of Heart Disease
General Physical Examination
Overall Appearance
Vital Signs
Respiratory Assessment
Cardiovascular Assessment
Arterial Examination
Venous Examination
Precordial Examination
Auscultation
Heart Sounds
First Heart Sound
Second Heart Sound
Third Heart Sound
Fourth Heart Sound
Ejection Click
Opening Snap
Non-Ejection Click
Classification of Cardiac Murmurs
Pediatric Murmur Evaluation
Systolic Murmurs
Diastolic Murmurs
Continuous Murmurs
Murmurs in Children with Normal Hearts
Vibratory Still Murmur
Pulmonary Flow Murmur
Peripheral Pulmonary Arterial Stenosis Murmur
Supraclavicular or Brachiocephalic Systolic Murmur
Aortic Systolic Murmur or “Athlete’s Murmur”
Normal Continuous Murmurs
Venous Hum
Mammary Arterial Souffle
Murmurs Caused by Common Lesions with Left-to-Right Shunt
Atrial Septal Defects
Patent Ductus Arteriosus
Ventricular Septal Defects
Size
Location
Shunt Flow
Pulmonary Hypertension
Associated Anomalies
Complete Atrioventricular Septal Defects
Murmurs Caused by Common Lesions with Right-to-Left Shunt and Cyanosis
Tetralogy of Fallot
Tricuspid Valve Atresia
Pulmonary Atresia with Intact Ventricular Septum
Transposition of the Great Arteries
Hypoplastic Left Heart Syndrome
Murmurs Caused by Common Lesions with Simple Obstruction
Pulmonary Valve Stenosis
Aortic Valve Stenosis
Coarctation of the Aorta
Mitral Valve Stenosis
Murmurs Caused by Atrioventricular Valve and Semilunar Valve Insufficiency
Tricuspid Valve Regurgitation
Mitral Valve Insufficiency
Mitral Valve Prolapse
Pulmonary Valve Insufficiency
Aortic Valve Insufficiency
Miscellaneous Cardiac Anomalies
Pericardial Disease
Pulmonary Hypertension
Approach to Congenital Heart Disease
Acute Rheumatic Fever and Rheumatic Heart Disease
Infective Endocarditis
Bibliography
Chapter 10: Shock
What is Shock: Pathophysiology
Key Historical Elements to Aid in Diagnosis and Etiology of Shock
Physical Examination to Assess and Manage Shock
Diagnostic Evaluation of Shock
Types of Shock
Pediatric Septic Shock
First Critical Actions in the Evaluation and Treatment of Shock
Anaphylaxis
Bibliography
Chapter 11: Hypertension
Presentation
Symptoms
Physical Examination
Etiology
Infantile Hypertension
Neonatal
Later Infancy
Childhood Hypertension
Common Causes
Less Common Causes
Rare Causes
Evaluation
Investigation of Infantile Hypertension
Investigation of Symptomatic Childhood Hypertension
Investigation for Asymptomatic, Less Common, and Rare Causes of Childhood Hypertension
Bibliography
Section 4: Gastrointestinal Disorders
Chapter 12: Failure to Thrive
Normal Growth
Definitions
Interpretation of Growth Charts
Epidemiology
Clinical Presentation
Approach to Determining Etiology
History
History of the Present Illness
Medical History
Family History
Social History
Review of Systems
Physical Examination
Laboratory Evaluation
Overall Approach to Management
Steps to Improve Calorie Intake
Mealtime Behavior
Beverages
Food Selection
Daily Routines and Snacks
Calculating Caloric Need
Referral Resources and Other Options
Multidisciplinary Team
Recording or Direct Observation
Involvement of Social Service Agencies
Behavioral Strategies
Non-Oral Enteral Feeding
Children with Special Health Care Needs
Criteria for Hospitalization
Monitoring
Long-Term Outcomes
Protein Energy Malnutrition
Bibliography
Chapter 13: Abdominal Pain
Pathophysiology of Abdominal Pain
Visceral Pain
Parietal Pain
Acute Abdominal Pain
History
Essential Components of the History
Time of onset of pain
Location of pain
Character of pain
Child’s activity level
Gastrointestinal symptoms
Associated symptoms
Family history and personal medical history
Physical Examination
Laboratory Evaluation
Complete Blood Cell Count
Urinalysis
Other Laboratory Tests
Imaging Evaluation
Plain Radiography
Ultrasonography
Contrast Studies
Computed Tomography
Management
Specific Causes of Acute Abdominal Pain
Appendicitis
Diagnosis
Laboratory and Radiographic Testing
Treatment
Pancreatitis
Manifestations
Complications
Management
Cholelithiasis
Diagnosis
Treatment
Peptic Ulcer Disease
Abdominal Wall Pain
Chronic Abdominal Pain
Making a Diagnosis of Functional Abdominal Pain
Severity and Location of Pain
Approach to Treatment
Bibliography
Chapter 14: Diarrhea
Acute Diarrhea
History
Physical Examination
Viral Diarrhea
Rotavirus Infection
Norovirus Infection
Bacterial Diarrhea
Salmonella Infection
Shigella Infection
Campylobacter Infection
Yersinia Infection
Escherichia coli Infection
Clostridioides difficile Infection
Aeromonas Infection
Plesiomonas Infection
Parasitic Diarrhea
Giardiasis
Entamoeba histolytica Infection
Cryptosporidium Infection
Other Causes of Acute Diarrhea
Parenteral Secondary Diarrhea
Medications
Food Poisoning
Chronic Diarrhea
History
Physical Examination
Diagnostic Evaluation
Disorders of Carbohydrate Malabsorption
Disaccharidase Deficiency
Congenital sucrase-isomaltasedeficiency (CSID)
Maltase-glucoamylasedeficiency
Congenital glucose-galactosemalabsorption (CGGM)
Congenital lactase deficiency
Primary lactase deficiency (lactose intolerance)
Secondary lactase deficiency
Trehalase deficiency
Functional Diarrhea (Chronic Nonspecific Diarrhea)
Small Intestinal Bacterial Overgrowth
Irritable Bowel Syndrome
Celiac Disease
Inflammatory Bowel Disease
Clinical Presentation
Diagnosis
Bibliography
Chapter 15: Vomiting and Regurgitation
Definitions
Neuroanatomy of Vomiting
Neurochemical Basis of Vomiting
Data to Guide the Diagnosis
History and Demographics
Temporal Pattern of Vomiting
Characteristics of Vomiting
Associated Symptoms
Medical, Family, and Social History
Physical Examination
Abdominal Examination
Rectal Examination
Evaluation
Laboratory Data
Radiographic and Procedure Data
Differential Diagnosis
General Approach
Gastrointestinal Obstruction
Esophageal Obstruction
Esophageal Atresia
Congenital Esophageal Stenosis
Esophageal Strictures
Miscellaneous Causes
Gastric Outlet Obstruction
Hypertrophic Pyloric Stenosis
Other Causes of Gastric Outlet Obstruction
Intestinal Obstruction
Duodenal Atresia, Stenosis, and Web; Annular Pancreas
Duodenal Hematoma
Jejunal Atresia, Ileal Atresia, and Ileal Stenosis
Intestinal Strictures
Adhesions
Duplications
Meconium Ileus and Distal Intestinal Obstruction Syndrome
Incarcerated Hernia
Malrotation and Volvulus
Meckel Diverticulum
Intussusception
Superior Mesenteric Artery Syndrome
Constipation, Meconium Plug, and Anal Stenosis
Gastrointestinal Dysmotility
Achalasia
Gastroesophageal Reflux
Gastroparesis
Ileus
Intestinal Pseudo-obstruction
Gastrointestinal Inflammation
Esophagitis
Gastroenteritis
Acid Peptic Disease
Meckel Diverticulitis
Mesenteric Adenitis
Appendicitis
Inflammatory Bowel Disease
Allergic Enteropathy, Eosinophilic Gastroenteropathy, and Eosinophilic Esophagitis
Functional Gastrointestinal Disorders
Cyclic Vomiting Syndrome
Abdominal Migraine
Functional Vomiting
Rumination Syndrome
Functional Dyspepsia
Gastrointestinal Ischemia and Vascular Insufficiency
Vasculitis
Mesenteric Ischemia
Hepatobiliary Disorders
Hepatitis
Biliary Colic and Cholecystitis
Pancreatitis
Gynecologic and Urologic Disorders
Pyelonephritis
Ureteropelvic Junction Obstruction and Hydronephrosis
Renal Colic
Dysmenorrhea, Endometriosis, and Pelvic Inflammatory Disease
Ovarian Torsion
Hyperemesis Gravidarum
Testicular Torsion
Respiratory Disorders
Sinusitis, Pharyngitis, and Otitis
Pneumonia
Central Nervous System Disorders
Increased Intracranial Pressure
Abdominal Epilepsy
Vestibular Disorders, Motion Sickness
Psychobehavioral Disorders
Eating Disorders
Psychiatric Disorders
Munchausen by Proxy
Management
Metabolic Disorders
Poisonings and Drugs
Hematemesis
Other Causes of Vomiting
Chemotherapy
Radiation Therapy
Postoperative
Porphyria
Familial Mediterranean Fever (Benign Paroxysmal Peritonitis, Periodic Peritonitis, Polyserositis)
Dysautonomia
Complications of Vomiting
Metabolic Complications
Nutritional Complications
Mallory-Weiss Tear
Peptic Esophagitis
Therapy
Antiemetic Drugs
Bibliography
Chapter 16: Gastrointestinal Bleeding
Definitions
Hematemesis
Hematochezia and Melena
Occult Gastrointestinal Bleeding
Mimics of Gastrointestinal Bleeding
Approach to Gastrointestinal Bleeding
Hematemesis and Melena: Upper Gastrointestinal Bleed
History
Physical Examination
Differential Diagnosis
Hematochezia: Lower Gastrointestinal Bleed
History
Physical Examination
Differential Diagnosis
Occult Gastrointestinal Bleeding
History
Physical Examination
Differential Diagnosis
Angiodysplasia/Angioectasia
Diagnostic Evaluations
Laboratory Evaluation
Imaging
Radiographs
Abdominal Ultrasound
Computed Tomography
Magnetic Resonance Enterography
Angiography
Nuclear Imaging
Procedural Evaluations
Upper Endoscopy or Esophagogastroduodenoscopy
Lower Endoscopy
Small Bowel Enteroscopy
Capsule Endoscopy
Treatment
Resuscitation
Vasoactive Agents
Endoscopic Modalities
Interventional Radiology
Surgical Intervention
Bibliography
Chapter 17: Hepatomegaly
Assessment of the Liver
History and Physical Examination
Pathophysiology
Evaluation of the Child with Hepatomegaly
Laboratory Studies
Hepatocellular Injury
Biliary Injury
Exocrine Function
Synthetic Function
Metabolic Function
Extrahepatic Involvement
Imaging Studies
Liver Biopsy
Specific Issues in the Diagnosis and Treatment of Hepatomegaly
Hepatomegaly in the Infant
Hepatomegaly in the Child and Adolescent
Steatohepatitis
Viral Hepatitis
Toxins
α1-Antitrypsin Deficiency
Wilson Disease
Autoimmune Liver Disease
Primary Sclerosing Cholangitis
AIDS
Other Infections
Perihepatitis Syndrome
Hepatic Abscess
Endocrine Disorders
Liver Tumors
Hepatic Cysts
Hepatic Venous Outflow Obstruction
Bibliography
Chapter 18: Jaundice
Diagnostic Strategies
Bilirubin
Aminotransferases
Alkaline Phosphatase
γ-Glutamyltransferase
Bile Acids
Albumin
Prothrombin Time
Ultrasonography
Scintigraphy
Computed Tomography
Magnetic Resonance
Endoscopic Retrograde Cholangiopancreatography
Percutaneous Transhepatic Cholangiography
Liver Biopsy
Jaundice in the Neonate and Infant
History
Physical Examination
Differential Diagnosis
Physiologic and Breast Milk Jaundice
Unconjugated Hyperbilirubinemia
Polycythemia
Hemolytic disorders
Isoimmune hemolytic disease
Erythrocyte membrane defects
Erythrocyte enzyme defects
Other considerations
Familial disorders of bilirubin metabolism
Gilbert syndrome
Crigler-Najjar syndrome
Lucey-Driscoll syndrome
Therapy
Neonatal conjugated hyperbilirubinemia
Obstructive/anatomic abnormalities, idiopathic cholestasis, and idiopathic neonatal hepatitis
Biliary atresia
Alagille syndrome
Choledochal cysts
Treatable infections
Bacterial infection
Herpes simplex
Enteroviruses
Coronavirus (COVID-19)
Cytomegalovirus infection
Hepatitis B
Syphilis
Toxoplasmosis
Treatable metabolic disorders
Galactosemia
Other identifiable infectious and metabolic causes of cholestasis
α1-Antitrypsin deficiency
Cystic fibrosis
Hypothyroidism and hypopituitarism
Progressive familial intrahepatic cholestasis
Idiopathic neonatal hepatitis
Treatment of cholestasis
Jaundice in the Child and Adolescent
History
Physical Examination
Differential Diagnosis
Unconjugated Hyperbilirubinemia
Conjugated Hyperbilirubinemia
Obstruction
Gallstones
Primary sclerosing cholangitis
Infection
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatitis E
Epstein-Barr virus
Other viruses
Wilson disease
Drugs and toxins
Autoimmune hepatitis
Bibliography
Chapter 19: Constipation
Physiology of Normal Defecation and Constipation
Data Collection and Assessment
History
Physical Examination
Diagnostic Evaluation
Differential Diagnosis
Hirschsprung Disease
Pediatric Intestinal Pseudoobstruction
Anterior Anal Displacement
Anal Stenosis
Imperforate Anus
Spina Bifida and Spina Bifida Occulta
Endocrine and Metabolic Diseases
Neurologic Disease
Medication-Related Constipation
Encopresis
Bibliography
Chapter 20: Abdominal Masses
Diagnostic Strategies
Clinical History
Physical Examination
Laboratory and Imaging Studies
Splenomegaly
History
Physical Examination
Approach to the Child with Splenomegaly
Laboratory Investigation
Complete Blood Cell Count
Leukocyte Count, Differential, and Procalcitonin
Hemoglobin, Erythrocyte Morphology, and Reticulocyte Count
Platelet Count
Pancytopenia
Viral Antibody Titers
Erythrocyte Sedimentation Rate and C-Reactive Protein
Liver Function Tests
Immunologic Evaluation
Cultures
Genetic Testing
Bone Marrow Examination
Imaging
Splenectomy
Neuroblastoma
Renal Masses
Congenital Hydronephrosis
Cystic Abnormalities of the Kidney
Wilms Tumor (Nephroblastoma)
Liver Tumors
Hepatoblastoma
Hepatocellular Carcinoma
Congenital Dilatation of the Bile Ducts
Intestinal and Pancreatic Masses
Appendiceal Phlegmon and Abscess
Intussusception
Bezoar
Intestinal Duplications
Neoplasms of the Gastrointestinal Tract
Mesenteric, Omental, and Retroperitoneal Cysts
Pancreatic Pseudocyst and Neoplasms
Ovarian Tumors
Soft Tissue Sarcoma
Bibliography
Section 5: Genitourinary Disorders
Chapter 21: Dysuria
Neonates
Children 2–24 Months of Age
Preschool Children
School-Aged/Prepubertal Children
Adolescents
Bibliography
Chapter 22: Proteinuria
Nephrotic Syndrome in Young Children
Differential Diagnosis
Minimal Change Disease
Diagnosis
Treatment
Complications of Nephrotic Syndrome
Infection
Thrombosis
Hyperlipidemia
Other Forms of Nephrotic Syndrome
Focal Segmental Sclerosis
Diagnosis
Treatment
Membranous Nephropathy
Treatment
Nephrotic Syndrome in Infants Younger Than 1 Year
Congenital Nephrotic Syndrome
Diffuse Mesangial Sclerosis
Asymptomatic Proteinuria Disorders
Bibliography
Chapter 23: Hematuria
Gross Hematuria
History
Physical Examination
Evaluation
Laboratory Tests
Imaging and Cystoscopy
Microscopic Hematuria
More Common Causes of Hematuria
Postinfectious Glomerulonephritis
Immunoglobulin A Nephropathy
Hereditary Nephritis
Polycystic Kidney Disease
Uncommon Causes of Hematuria in Childhood
Bibliography
Chapter 24: Acute and Chronic Scrotal Swelling
Scrotal and Inguinal Anatomy
Inguinal Region
Testis Descent
Scrotum
Testis
Diagnostic Strategies
History
Physical Examination
Pubertal development
Scars in the inguinal region
Scrotal skin changes and fixation
Testis position within the scrotum
Cremasteric reflex
Laboratory Data
Imaging Studies
Differential Diagnosis
Testicular Torsion
Torsion of the Appendix Testis
Epididymitis, Epididymoorchitis, and Orchitis
Trauma and Hematocele
Varicocele
Inguinal Hernia
Hydrocele
Testicular Tumors
Meconium Peritonitis
Scrotal Wall Swelling
Henoch-Schönlein Purpura (Immunoglobulin A Vasculitis)
Acute Idiopathic Scrotal Wall Edema
Idiopathic Fat Necrosis
Fournier Gangrene
Referred Pain
Bibliography
Chapter 25: Menstrual Problems and Vaginal Bleeding
Prepubertal Vaginal Bleeding
Abnormal Bleeding in Adolescence
Review of the Menstrual Cycle
Pregnancy
Coagulopathy
Ovulatory Dysfunction
Endometrial Causes
Iatrogenic Causes
Not Yet Classified
Structural Causes: PALM
Congenital Anomalies
Treatment
Menstrual Pain in Adolescents
Bibliography
Chapter 26: Disorders of Sex Development
Overview of Sex Differentiation
Overview of Gonadal Function
Testes
Ovaries
Diagnostic Approach ot the Patient with Atypical or Ambiguous Genitalia
Basic Approaches to the Diagnosis and Management of Disorders of Sex Development
Specific Types of Disorders of Sex Development
46,XX Disorders of Sex Development
Androgen Exposure/Fetoplacental Source
Congenital adrenal hyperplasia
Aromatase deficiency
Cortisol resistance due to glucocorticoid receptor gene pathogenic variants
Androgen Exposure: Maternal Source
Virilizing maternal tumors
Administration of androgenic drugs to women during pregnancy
Disorders of Ovarian Development
46,XX testicular DSD
46,XX gonadal dysgenesis
Undetermined/unknown
46,XY Disorders of Sex Development
Defects in Testicular Development
Wilms tumor suppressor gene (WT1) pathogenic variants: Denys-Drash, Frasier, and WAGR syndromes
Campomelic dysplasia
Steroidogenic Factor 1 (SF1)
Other Known Genetic Causes of 46,XY DSD
XY pure gonadal dysgenesis (Swyer syndrome)
XY gonadal agenesis syndrome (embryonic testicular regression syndrome)
Deficiency of Testicular Hormone Production
Leydig cell aplasia
Congenital adrenal hyperplasia
Deficiency of 17-ketosteroid reductase
Persistent müllerian duct syndrome
Smith-Lemli-Opitz syndrome
Defects in Androgen Action
Dihydrotestosterone deficiency
Androgen receptor defects: androgen insensitivity syndromes
Undetermined Causes of 46,XY Disorders of Sex Development
Ovotesticular Disorders of Sex Development
Sex Chromosome Disorders of Sex Development
Bibliography
Section 6: Developmental and Psychiatric Disorders
Chapter 27: Intellectual Developmental Disorders (Developmental Delay)
Definitions
Epidemiology
Intellectual Disability
Developmental Disability
Diagnosis
Identification
Developmental Risk Factors
Developmental Protective Factors
Screening for Specific Abnormalities
Visual Deficits
Loss of Hearing
Speech and Language Disorders
Prenatal and Newborn Screening Programs
Prenatal Screening
Newborn Screening
Identification of Children with Developmental Disabilities in Primary Health Care Settings
Developmental Screening
Developmental Surveillance
Comprehensive Developmental Assessment
Neurodevelopmental Pediatric Assessment
History
Physical Examination
Formal Neurodevelopmental Assessments
Psychologic Evaluation
Speech-Language and Oral Motor Evaluation
Diagnostic Strategy
Genetic Considerations
Laboratory Testing
Genetic Tests
Metabolic Tests
Neuroimaging
Ultrasonography
Computed Tomography Scans
Magnetic Resonance Imaging
Indications for Various Imaging Modalities
Other Tests
Discussing a Developmental Diagnosis with Parents
Specific Conditions
Cerebral Palsy
Autism Spectrum Disorder
Fragile X Syndrome
Inborn Errors of Metabolism and Storage Diseases
Congenital Infections
Postnatal Infections
Treatment
Pitfalls and Hazards in Developmental Diagnosis
Bibliography
Chapter 28: Neurocognitive and Developmental Regression
Diagnostic Approach
Genetic Evaluation
Metabolic Tests
Bibliography
Chapter 29: Dysmorphology
Diagnostic Approaches
Human Variation
Teratology
Embryogenesis
Birth Defects
Clinical Classification
Single-System Defects
Association
Sequence
Syndrome
Complex
Dysmorphic Evaluation
Components of Dysmorphic Evaluation
Detailed History
Family health history
Pregnancy and birth history
Developmental history
Examination
Initial Inspection
Anthropometrics
Head and Neck
Face
General “Rules”
Assembling the Data
Minimal Diagnostic Criteria
Tools to Assist the Diagnostic Odyssey
Genetic Testing
Bibliography
Chapter 30: The Irritable Infant
Diagnostic Approach
Addressing Caregivers’ Response to Crying
Specific Diagnoses
Child Maltreatment
Infantile Colic
Feeding and Gastrointestinal Dysfunction
Teething
Drug Reactions
Monogenetic Pain Syndromes
Bibliography
Chapter 31: Emotional and Behavioral Symptoms
Conditions Characterized by Abnormal Behaviors
Behaviors That Primarily Affect the Patient
Attention-Deficit/Hyperactivity Disorder
Inattention
Hyperactivity/Impulsivity
Tic Disorders
Behaviors That Affect Others
Disruptive Mood Dysregulation Disorder
Intermittent Explosive Disorder
Substance Use Disorder
Oppositional Defiant Disorder
Conduct Disorder
Conditions Characterized by Disruption in Mood
Conditions Characterized by Depressed Mood
Major Depressive Disorder
Premenstrual Dysphoric Disorder
Substance-Induced Mood Disorders
Adjustment Disorder
Conditions Characterized by Extremes of Mood Lability
Addressing Suicidal Thoughts and Attempts
Conditions Characterized by Worry, Fear, and Panic
Conditions Characterized by Worry
Worry Without Unusual Behaviors
Adjustment disorder with anxiety
Worry with Unusual Behaviors
Pediatric Acute Onset Neuropsychiatric Disorder
Conditions Characterized by Fear
Fears Arising Spontaneously
Specific phobias
Social anxiety disorder (social phobia)
Separation anxiety disorder
Selective mutism
Fears Arising from Traumatic Events
Conditions Characterized by Panic
Panic Disorder
Agoraphobia
Condtions Characterized by Mental Status Abnormalities
Conditions Characterized by Hallucinations
Fantasy-Based Hallucinations
Grief-Induced Hallucinations
Hallucinations Associated with Sleep
Phobic Hallucinations
Febrile Hallucinations
Schizophrenia
Conditions Characterized by Fluctuating Mental Status
Delirium
Substance Intoxication
Serotonin Syndrome
Neuroleptic Malignant Syndrome
Condtions Characterized by Physical Findings or Complaints
Conditions Characterized by Parental Concerns
Parental Worry
Factitious Disorder Imposed on Another (Formerly Munchausen Syndrome by Proxy)
Conditions Characterized by the Patient’s Physical Complaints
Illness Anxiety Disorder (Hypochondriasis)
Somatic Symptom Disorder
Factitious Disorder
Conversion Disorder (Functional Neurologic Symptom Disorder)
Conditions Characterized by Changes in Eating
Conditions Characterized by Decreased Eating
Anorexia Nervosa
Avoidant/Restrictive Food Intake Disorder
Conditions Characterized by Binge Eating
Bulimia Nervosa
Binge-Eating Disorder
Bibliography
Chapter 32: Autistic-like Behaviors
Diagnostic Criteria
Medical Work-Up
Screening and Diagnosis for Autism Spectrum Disorder
Common Mimics and Co-occurring Neurodevelopmental Disorders
Genetic Testing and Diagnosis
Genetic Disorders That Co-Occur with Autism Spectrum Disorder
Fragile X Syndrome
MECP2-­Related Neurodevelopmental Disorders
PTEN Hamartoma Syndrome
22q11.2 Deletion Syndrome
22q11.2 Duplication Syndrome
Tuberous Sclerosis
Timothy Syndrome
Phelan-McDermid Syndrome
Cortical Dysplasia–Focal Epilepsy Syndrome
15q11-13 Deletion or Duplication Maternal/Paternal
Potocki-Lupski Syndrome
Pitt-Hopkins Syndrome
Metablic Disorders That Present with Autistic-Like Features
Regression
Catatonia
Bibliography
Chapter 33: Chronic Pain
Chronic Pain
Chronic Overlapping Pain Condition
Comorbid Conditions
Pathophysiology
Epidemiology
Management
Therapeutic Approach
Bibliography
Section 7: Neurosensory Disorders
Chapter 34: Headaches
History
Physical Examination
Neuroimaging
Laboratory Investigations
Classification of Headaches
Primary Headaches
Tension-Type Headaches
Migraine Headaches
Migraine without aura
Migraine with aura
Complications of migraine
Trigeminal Autonomic Cephalgias
Cluster headache
Paroxysmal Hemicrania
Secondary Headaches
Headache Associated with Trauma
Acute headache
Persistent headache
Headaches Associated with Vascular Disorders
Acute ischemic stroke
Aneurysms and arteriovenous malformations
Venous thrombosis
Vascular dissection
Vasculitis
Genetic disorders
Headaches Associated with Nonvascular Intracranial Disorders
Disorders associated with increased CSF pressure
Disorders associated with decreased CSF pressure
Intracranial masses
Chiari I malformations
Headaches associated with epileptic seizures
Headaches Related to Substances
Medication-overuse headaches
Caffeine withdrawal headaches
Other substance exposure headaches
Headaches Associated with Infections
Headaches and/or Facial Pain Related to Dysfunction of Extracranial Structures
Disorders Affecting Homeostasis
Psychologic Factors
Bibliography
Chapter 35: Hypotonia and Weakness
Muscle Weakness and Hypotonia
Evaluating Hypotonia
Hypotonic Infant
Clinical Evaluation
Muscle Strength
Passive Tone
Joint Extensibility
Postural Reflexes
Traction response (pull-to-sit)
Axillary suspension
Ventral suspension
Weak Child
Clinical Evaluation
Posture and Strength
Passive Tone
Joint Extensibility
Diagnostic Approach to the Hypotonic Infant
Diagnostic Approach to the Child with Weakness
Is the Problem a Systemic Disorder
Diagnostic Considerations
Common Disorders
Trisomy 21
Prader-Willi syndrome
Uncommon Disorders
Metabolic disorders
Genetic neurologic disorders
Congenital malformation syndromes
Connective tissue disorders
Is the Problem in the Cerebrum or Cerebellum
Diagnostic Considerations
Common Disorders
Hypoxic-ischemic encephalopathy
Brain malformations
Uncommon Disorders
Progressive encephalopathies of infancy
Mitochondrial diseases
Brain malformation syndromes
Is the Problem in the Spinal Cord
Diagnostic Considerations
Common Disorders
Meningomyelocele
Transverse myelitis
Tethered cord syndrome
Hereditary spastic paraplegia
Uncommon Disorders
Is the Problem in the Motor Unit
Diagnostic Considerations
Is the Problem in the Motor Neuron/Anterior Horn Cell
Diagnostic considerations
Common disorders
Rare disorders
Is the Problem in the Nerve
Diagnostic considerations
Common disorders
Guillain-Barré syndrome
Charcot-Marie-Tooth hereditary neuropathy
Uncommon disorders
Chronic inflammatory demyelinating polyneuropathy
Is It a Problem at the Neuromuscular Junction
Diagnostic considerations
Common disorders
Autoimmune myasthenia gravis
Botulism
Uncommon disorders
Transient neonatal myasthenia
Congenital myasthenic syndrome
Is It a Problem in the Muscle
Diagnostic considerations
Common disorders
Duchenne and Becker muscular dystrophy
Myotonic dystrophy type 1
Juvenile dermatomyositis
Uncommon disorders
Pompe disease
Congenital myopathies
Congenital muscular dystrophies
Bibliography
Chapter 36: Rhabdomyolysis
Rhabdomyolysis
Diagnosis
HyperCKemia
Myoglobinuria
Myositis
Clinical Presentation
History
Physical Examination
Diagnostic Evaluation
Muscle Biopsy
Treatment
Renal Injury Risk
Compartment Syndrome
Hospital Follow-Up
Diseases
Exercise-Induced
History
Physical Examination
Diagnostic Evaluation
Treatment
Hospital Follow-Up
Infectious
Trauma
Drug/Toxin
History
Diagnostic Evaluation
Treatment
Autoimmune
Treatment
Muscle Disease
Dystrophinopathy
Other Muscular Dystrophies
Myopathies
RYR1 and Malignant Hyperthermia
Glycogen Metabolism/McArdle DISEASE
Carnitine Palmitoyl Transferase II Deficiency
Systemic Disease
Mitochondrial and Fatty Acid Oxidation Defects
Presumed Isolated HyperCKemia
Bibliography
Chapter 37: Stroke
Definitions
The Symptoms of Stroke
Weakness
Localization and Severity of Weakness
Characterization of Weakness: Flaccid or Spastic
Sensory Deficits
Language Deficits
Types of Aphasias
Visual Deficits
Coordination, Precision, and Gait Disorders
Brainstem Syndromes
Seizures
Disorders of Consciousness
Stroke Syndromes by Age
Perinatal Stroke
Neonatal Stroke
Clinical Presentation and Mimics
Risk Factors of Neonatal Stroke
Evaluation and Management
Imaging
Laboratory Testing
Management
Outcomes
Presumed Perinatal Stroke
Clinical Presentation and Mimics
Evaluation, Management, and Outcome
Stroke in Children
Ischemic Stroke in Children
Risk Factors and Etiology
Arteriopathies
Cardiac Disease
Prothrombotic Conditions
Autoimmune Conditions
Metabolic and Genetic Disorders
Evaluation and Management
Outcome
Hemorrhagic Stroke in Children
Coagulopathies
Thrombocytopenia
Vascular Malformations
Venous Stroke in Children
Risk Factors
Evaluation and Management
Outcome
Stroke in Adolescents
Fibromuscular Dysplasia
Oral Contraception, Pregnancy, and the Puerperium
Illicit Substance Use
Modifiable Risk Factors
Causes of Stroke Unrelated to Age
Pharyngeal Infection
Head and Neck Trauma
Migraine Headache
Bibliography
Chapter 38: Hypertonicity
Definitions
History
Physical Examination
Etiology
Cerebral Palsy
Testing
Management
Hereditary Hyperekplexia
Stiff Person Syndrome
Tetanus
Myogenic Etiologies of Hypertonicity
Drug-Related Hypertonicity
Opisthotonus
Bibliography
Chapter 39: Paroxysmal Disorders
History
Physical Examination
Red Flags
Increased Intracranial Pressure or Large Intracranial Mass
Ongoing Status Epilepticus
Stroke or Complicated Migraine
Meningitis
Paroxysmal Spells of Altered Behavior or Movement
Epileptic Seizures
Epidemiology and Causes of Seizures and Epilepsy
Genetics
Seizure Classification and Terminology
Focal Seizures
Localization-Related Seizures, Partial Seizures
Generalized Seizures
Diagnostic Evaluation of a Seizure Disorder
Electroencephalographic Studies
Neuroimaging Studies
Evaluation of the First Seizure
Status Epilepticus
Classification of Epilepsies and Epileptic Syndromes
Neonatal Period
Paroxysmal Nonepileptic Disorders
Jitteriness
Benign Neonatal Sleep Myoclonus
Acute Symptomatic Seizures and Occasional Seizures
Diagnostic Investigations
Prognosis
Treatment
Epileptic Syndromes
Benign idiopathic neonatal convulsions, familial and nonfamilial
Vitamin-dependent seizures
Structural focal epilepsy
Early-onset generalized epileptic syndromes with encephalopathy
Infancy
Paroxysmal Nonepileptic Disorders
Infantile syncope
Cyanotic infant syncope (breath-holding spells).
Pallid infant syncope
Hyperekplexia
Sleep disorders
Shivering attacks
Paroxysmal torticollis
Infantile masturbation
Spasmus nutans
Benign paroxysmal vertigo
Benign myoclonus of early infancy
Alternating hemiplegia of childhood
Acute Symptomatic Seizures and Occasional Seizures
Febrile convulsions
Epileptic Syndromes
West syndrome
Evaluation: EEG, MRI
Severe myoclonic epilepsy in infancy (Dravet syndrome)
Childhood
Paroxysmal Nonepileptic Disorders
Migraine and migraine equivalents
Tic disorders
Sleep disorders
Night terrors and confusional arousals
Somnambulism
Self-stimulatory behavior/stereotypies
Acute Symptomatic Seizures and Occasional Seizures
Epileptic Syndromes
Benign partial epilepsies of childhood
Acquired epileptic aphasia and continuous spike-and-wave patterns in slow-wave sleep
Symptomatic focal (localization-related) epilepsy
Childhood absence epilepsy
Epilepsia partialis continua and Rasmussen encephalitis
Lennox-Gastaut syndrome
Adolescence
Paroxysmal Nonepileptiform Disorders
Syncope
Paroxysmal psychiatric events
Acute Symptomatic Seizures and Occasional Seizures
Epileptic Syndromes
Juvenile myoclonic epilepsy
Juvenile absence epilepsy
Epilepsy with generalized tonic-clonic seizures on awakening
Rare Status Epilepticus Syndromes
Principles of Antiepileptic Drug Use
Stopping Antiepileptic Drugs
Lifestyle
Bibliography
Chapter 40: Movement Disorders in Childhood
Movement Disorders
Chief Complaint
History
Physical Examination
Dystonia
Acute Dystonia
Infections
Inflammation
Acute Dystonic Reactions from Medications
Paroxysmal Dystonia
Paroxysmal Kinesigenic Dyskinesia
Sandifer Syndrome
Benign Paroxysmal Torticollis
Alternating Hemiplegia of Childhood
Chronic Dystonia
Primary Dystonia
Early-Onset Dystonia
Dopa-Responsive Dystonia
Symptomatic Dystonia
Wilson Disease
Lesch-Nyhan Syndrome
Rasmussen Syndrome
Niemann-Pick Type C
Management of Dystonia
Chorea/Athetosis/Ballismus
Acute Chorea
Sydenham Chorea
Acute Disseminated Encephalomyelitis
Drug-Induced Chorea
Chronic Chorea
Benign Hereditary Chorea
Treatment
Ataxia
Opsoclonus-Myoclonus Ataxic Encephalopathy/Opsoclonus Myoclonus Syndrome
Clinical Observations in Children with Ataxia
Acute Cerebellar Ataxia
Causes of Chronic Ataxia
Glucose Transporter-1 Deficiency Syndrome
Ataxia-Telangiectasia
Evaluation and Testing in a Child with Ataxia
Tremor
Essential Tremor
Shudder Attacks
Tics
Tourette Disorder
Chronic Motor Tic or Vocal Tic Disorder
Provisional Tic Disorder
Stereotypies
Myoclonus
Neonatal Sleep Myoclonus
Hereditary Hyperekplexia
Essential Myoclonus
Dyskinetic Cerebral Palsy
Conditions That Mimic Movement Disorders
Epilepsia Partialis Continua
Psychogenic Movement Disorders
Bibliography
Chapter 41: Altered Mental Status
Altered Mental Status
Altered States of Consciousness
Classification Systems
Differential Diagnosis
Simultaneous Diagnosis and Management Approach
Stabilization
Rapid Clinical Assessment
Rapid History
Rapid Physical Exam
General Physical Exam
Neurologic Exam
Motor System and Focal Findings
Signs of Increased Intracranial Pressure
Brainstem Functioning
Breathing Patterns
Pupillary Light Reflexes
Eye Movement Reflexes
Corneal Reflex
Body Position
Determining the Level of CNS Dysfunction
Reversal of Immediately Treatable Toxic or Metabolic Causes
Detailed Investigation
Trauma
Primary Brain Diseases
Structural Brain Disease
Intracranial Hemorrhage and Thrombosis
Intracranial Tumor
Hydrocephalus
Nonstructural or Medical Primary Brain Disease
Seizures
Central Nervous System Infections
Inflammatory Diseases of the Central Nervous System
Toxic Encephalopathy
Level of Consciousness
Pupillary Examination
Vital Signs
Metabolic Encephalopathies
Inborn Errors of Metabolism
Bibliography
Chapter 42: Encephalitis
Etiology
Autoimmune Encephalitis
Evaluation
Diagnostic Emergencies: Other Diseases to Exclude
Encephalomyelitis
Acute Flaccid Paresis/Paralysis (Without Encephalopathy)
ADEM
COVID-19 Associated CNS Manifestations
Bibliography
Chapter 43: Eye Disorders
Eye and Visual System Anatomy
Development of the Eye and Visual System
Amblyopia and Vision Screening
Visual Fields
Strabismus
Refractive Errors
Myopia
Hyperopia
Astigmatism
Anisometropia
Vision Impairment in Children
Retinopathy of Prematurity
Leukocoria and Retinoblastoma
Childhood Cataracts
Glaucoma in Childhood
Childhood Uveitis
Nasolacrimal Problems in Childhood
Red Eye
Eyelid Abnormalities
Orbital Tumors
Nonspecific Orbital Inflammation/Idiopathic Orbital Inflammation/Orbital Pseudotumor
Ocular Manifestations of Systemic Disease
Neurologic Disease
Dermatologic Disease
Hematologic Disorders
Congenital Heart Disease
Gastrointestinal Disorders
Genitourinary Disease
Endocrine Disease
Infectious Diseases
Nystagmus
Ocular Trauma
Hyphema
Eye Injuries in Child Abuse
Functional Vision Loss
Visual Complaints of Children
Bibliography
Section 8: Musculoskeletal Disorders
Chapter 44: Arthritis
History
Pain Location
Pain Character
Pain Timing
Pain Acuity
Signs of Inflammation
Disability
Medical History
Medications
Family History
Social History
Review of Systems
Constitutional Symptoms
Skin Changes
Additional Symptoms
Physical Examination
Laboratory Studies
Antinuclear Antibody
Rheumatoid Factor
Additional Antibody Testing
Complement
Diagnostic Imaging
Radiographs
Ultrasound
Magnetic Resonance Imaging
Bone Scan
Additional Imaging Studies
Joint Fluid Aspiration
Invasive Testing
Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis
Polyarticular Juvenile Idiopathic Arthritis
Enthesitis-Related Arthritis
Psoriatic Arthritis
Systemic Juvenile Idiopathic Arthritis
Diagnosis
Systemic Lupus Erythematosus
Diagnosis
Dermatomyositis
Diagnosis
Scleroderma
Morphea
Linear Scleroderma
Systemic Sclerosis
Rheumatic Fever
IgA Vasculitis/Henoch-Schönlein Purpura
Myalgia
Complex Regional Pain Syndrome
Bibliography
Chapter 45: Gait Disturbances
Gait Cycle
Development of Gait
Clinical Evaluation of Gait Disturbances
History
Physical Examination
General Musculoskeletal Examination
Lower extremity length measurements
Joint assessment
Spinal evaluation
Neurologic Evaluation
Radiographic Assessment
Laboratory Tests
Gait Disturbances
Torsional Variations
Normal Developmental Alignment
Torsional Profile
Foot progression angle
Hip rotation
Thigh-foot angle
Foot shape
In-Toed Gait
Internal femoral torsion
Physical examination
Radiographic evaluation
Internal tibial torsion
Physical examination
Radiographic evaluation
Metatarsus adductus
Physical examination
Radiographic evaluation
Talipes equinovarus (clubfoot)
Out-Toed Gait
External femoral torsion
Physical examination
Radiographic evaluation
External tibial torsion
Physical examination
Radiographic evaluation
Calcaneovalgus foot
Physical examination
Radiographic evaluation
Hypermobile pes planus
Physical examination
Radiographic evaluation
Equinus Gait (Toe-Walking)
Neuromuscular Disorders
Physical examination
Radiographic evaluation
Other testing
Lower Extremity Length Discrepancy
Physical examination
Radiographic evaluation
Habitual Toe-Walking
Physical examination
Radiographic evaluation
Idiopathic Toe-Walking
Physical examination
Radiographic evaluation
Limping
Antalgic Gait
Congenital origin: Tarsal coalition
Physical examination
Radiographic evaluation
Developmental origin
Legg-Calvé-Perthes disease
Physical examination
Radiographic evaluation
Slipped capital femoral epiphysis
Physical examination
Radiographic evaluation
Trauma
Sprains, strains, and contusions
Physical examination
Radiographic evaluation
Occult fractures
Physical examination
Radiographic evaluation
Neoplasia
Benign neoplasms
Radiographic evaluation
Malignant neoplasms
Physical examination
Radiographic evaluation
Infection and inflammation
Septic arthritis and osteomyelitis
Physical examination
Radiographic evaluation
Spondylodiskitis
Rheumatic causes
Transient synovitis
Physical examination
Radiographic evaluation
Trendelenburg Gait
Developmental anomalies
Developmental dysplasia of the hip
Physical examination
Radiographic evaluation
Lower extremity length discrepancy
Neuromuscular Origin
Cerebral palsy
Nerve entrapment syndromes (mononeuropathies)
Bibliography
Chapter 46: Back Pain
Normal Anatomy, Growth, and Development of the Spine
Normal Spinal Alignment
Evaluation of the Pediatric Spine
Back Pain of Brief Duration
Persistent Back Pain
Differential Diagnosis
Specific Diagnoses
Spondylodiskitis
Clinical Findings
Treatment
Spondylolysis and Spondylolisthesis
Clinical Findings
Treatment
Intervertebral Disk Herniation
Clinical Findings
Treatment
Idiopathic Kyphosis
Scoliosis
Etiology
Classification
Infantile idiopathic scoliosis
Juvenile idiopathic scoliosis
Adolescent idiopathic scoliosis
School Screening Programs
Natural History
Treatment
Syringomyelia
Tumors of the Spinal Column
Primary Lesions of Bone
Tumors of Neural Elements
Leukemia and Lymphoma
Mechanical Back Pain
Bibliography
Chapter 47: Hypermobility
Evaluating Hypermobility
Connective Tissue and Its Role in These Disorders
Hypermobility Spectrum Disorders
Diagnostic Characterization of Hypermobility
Closing Considerations
Bibliography
Section 9: Hematologic Disorders
Chapter 48: Lymphadenopathy and Neck Masses
Mechanism of Lymphadenopathy
History
Physical Examination
Size
Quality
Distribution
Evaluation and Management Strategies
Regional Lymphadenopathy: General Evaluation Principles
Generalized Lymphadenopathy: General Evaluation Principles
Lymphadenopathy Patterns
Infections of the oropharynx
Infections of the extremities
Epstein-Barr virus infection
Cytomegalovirus infection
Cat-scratch disease
Chronic granulomatous disease
Human immunodeficiency virus
Mycobacterial infections
Toxoplasmosis
Syphilis
Acute leukemia, lymphoma, and other malignancies
Ulceroglandular disorders
Kimura disease
Kikuchi-Fujimoto disease (histiocytic necrotizing lymphadenitis)
Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman Disease)
Castleman disease (angiofollicular lymph node hyperplasia)
Kawasaki disease
Mimics of Head and Neck Lymphadenopathy: Head and Neck Masses
Salivary Gland Lesions
Thyroid Lesions
Developmental Anomalies and Soft Tissue Tumors
Bibliography
Chapter 49: Pallor and Anemia
History
Physical Examination
Laboratory Evaluation
Classification of Anemia
Reticulocyte Count
Red Blood Cell Size
Red Blood Cell Morphology
Other Laboratory Abnormalities Associated with Anemia
Diagnostic Work-Up
Differential Diagnosis of Anemia
Anemia Secondary to Acute Blood Loss
Anemia Secondary to Underproduction
Microcytic Anemias
Iron-Deficiency Anemia
Iron-refractory iron-deficiency anemia
Lead poisoning
Anemia of inflammation
Rare causes of microcytic anemia
Normocytic Anemia Secondary to Underproduction
Macrocytic Anemia
Anemia due to bone marrow failure syndromes
Megaloblastic anemia (vitamin B12 deficiency or folate deficiency)
Anemia Caused by Increased Red Blood Cell Destruction
Membrane Defects
Enzyme Defects
Hemoglobinopathies
Acquired Autoimmune Hemolytic Anemia
Anemia in the Neonate
Neonatal Anemia Caused by Blood Loss
Neonatal Anemia Caused by Decreased Red Blood Cell Production
Neonatal Anemia Caused by Increased Red Blood Cell Destruction
Bibliography
Chapter 50: Pancytopenia-Aplastic Anemia-Bone Marrow Failure
History
Physical Findings
Laboratory Evaluation
Hypocellular Marrow
Inherited
Fanconi Anemia
Dyskeratosis Congenita
Shwachman-Diamond Syndrome
Congenital Amegakaryocytic Thrombocytopenia
Other Genetic Syndromes
Acquired
Infections
Immune Diseases
Pregnancy
Paroxysmal Nocturnal Hemoglobinuria
Marrow Replacement
Malignant Infiltration
Myelodysplasia
Nonmalignant Causes of Infiltration That Lead to Pancytopenia
Megaloblastic Anemia
Vitamin B12
Folate Deficiency
Increased Reticulocytes/Evidence of Hemolysis
Coombs Positive
Autoimmune
Coombs Negative
Sepsis/Shock
Splenic Sequestration and Hypersplenism
Bibliography
Chapter 51: Bleeding and Thrombosis
Coagulation Cascade
Coagulation Inhibitors
Antithrombin
Protein C/Protein S System
Fibrinolytic System
Platelet-Endothelial Cells Axis
Developmental Hemostasis
Clues From History and Physical Examination
History
Physical Examination
Coagulation Screening Tests
Prothrombin Time and Partial Thromboplastin Time
Bleeding Time
Platelet Function Analysis
Thrombin Time and Reptilase Time
Mucocutaneous Bleeding
Neonatal Thrombocytopenia
Child Abuse
Chronic/Insidious Onset of Mucocutaneous Bleeding
Platelet Function Defects
Chronic Thrombocytopenic Syndromes
Deep Bleeding
Surgical Bleeding
Generalized Bleeding
Neonatal Purpura Fulminans
Other Causes of Generalized Bleeding
Thrombosis
Venous Thromboembolic Disease
Diagnostic Approach
Specific Diagnostic Studies
Thrombophilia Testing
Arterial Thrombosis
Anticoagulant Therapy
Parenteral Therapy
Unfractionated Heparin
Fibrinolytic Therapy
Warfarin
Direct Oral Anticoagulant Therapy
Bibliography
Section 10: Infectious Diseases/Immune/Inflammation
Chapter 52: Fever
Definitions
Pathophysiology of Fever
Fever Without Source
History
Temperature Measurement
Physical Examination
Observational Scales
Differential Diagnosis
Urinary Tract Infections
Bacteremia
Meningitis
Role of Diagnostic Testing in Patients with Fever Without Source
Complete Blood Count and Other Markers of Inflammation
Molecular Testing
Blood Cultures
Urinalysis and Urine Culture
Lumbar Puncture
Chest Radiographs
Stool Cultures
Evaluation and Management
Children Younger Than 3 Months
Children Aged 3–36 Months
Children Older Than 36 Months
Fever with Localizing Signs: Focus on Central Nervous System Infections
Bacterial Meningitis
Diagnostic studies
Lumbar puncture and cerebrospinal fluid analysis
Computed tomography
Other laboratory tests
Aseptic Meningitis
Viral meningitis
Tuberculous meningitis
Encephalitis and Meningoencephalitis
Fever of Unknown Origin
History
Physical Examination
Eyes
Ears, Nose, and Throat
Neck
Heart, Lungs, and Abdomen
Musculoskeletal Evaluation
Skin
Diagnostic Studies
Cause
Infectious Syndromes Causing Fever of Unknown Origin
Bacterial endocarditis
Urinary tract infection
Sinusitis
Abscesses
Osteomyelitis
Rheumatic fever
Bacterial Pathogen Causes of Fever of Unknown Origin
Lyme disease
Cat-scratch disease
Q fever
Rat-bite fever
Tularemia
Brucellosis
Leptospirosis
Chlamydial infection
Rickettsial infections
Fungal Pathogen Causes of Fever of Unknown Origin
Viral Pathogen Causes of Fever of Unknown Origin
Cytomegalovirus
Epstein-Barr virus
Human immunodeficiency virus
Parasitic Pathogen Causes of Fever of Unknown Origin
Infections in Children with Fever of Unknown Origin Who Live in or Have Traveled to Countries with Certain Endemic Infections or Lower Baseline Socioeconomic Status
Malaria
Viral Hepatitis
Typhoid Fever (Enteric Fever)
Tuberculosis
Amebiasis
Rheumatic Causes of Fever of Unknown Origin
Juvenile Idiopathic Arthritis
Polyarteritis
Systemic Lupus Erythematosus
Behçet Syndrome
Neoplasms
Hodgkin Lymphoma
Lymphoma
Neuroblastoma
Leukemia
Pheochromocytoma
Miscellaneous Causes of Fever of Unknown Origin
Genetic Diseases
Drug Fever
Kawasaki Disease
Inflammatory Bowel Disease
Thyrotoxicosis
Factitious Disorders
Patients with Fever of Unknown Origin in Whom No Diagnosis Is Made
Bibliography
Chapter 53: Fever and Rash
Fever and Rash
History
Examination
Specific Skin Lesions
Maculopapular Eruptions
Petechiae and Purpura
Vesiculobullous Eruptions
Nodules
Ulcers
Erythema
Other Physical Examination Findings
Joint Manifestations
Cardiac Manifestations
Ocular Manifestations
Neurologic Manifestations
Pulmonary Manifestations
Clusters of Findings
Diagnostic Studies
Laboratory Tests
Histopathology
Other Diagnostic Studies
Diagnosis and Decision Making
Clinical Syndromes
Kawasaki Disease
Toxic Shock Syndrome
Staphylococcal Toxic Shock Syndrome
Streptococcal Toxic Shock Syndrome
Erythema Multiforme
Stevens-Johnson Syndrome, Toxic Epidermal Necrolysis, and Staphylococcal Scalded Skin Syndrome
Serum Sickness and Serum Sickness–Like Reaction
Henoch-Schönlein Purpura (IgA Vasculitis)
Other Disorders
Management of Fever and Rash
Chapter 54: Recurrent Fever, Immune Deficiency, and Autoinflammatory Disorders
History and Physical Examination
History
Perinatal History
Anatomic Abnormalities
Asplenia
Family History
Environmental History
Physical Examination
Diagnostic Categories
The Patient Who Is Probably Healthy
The Patient with Hereditary Inflammatory Disorders
Familial Mediterranean Fever
Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
Cryopyrin-Associated Periodic Syndromes
Hyperimmunoglobulin D Syndrome
Deficiency of the Interleukin-1 Receptor Antagonist
TNF Receptor–Associated Periodic Syndrome
Deficiency of Adenosine Deaminase 2
Interferonopathies
STING-Associated Vasculopathy
NF-κB Related Disorders
The Immunodeficient Patient
Diagnostic Approach to the Patient with Recurrent Infections
Humoral Immune Disorders
X-Linked Agammaglobulinemia
Common Variable Immunodeficiency
Transient Hypogammaglobulinemia of Infancy
Immunoglobulin A Deficiency
Specific Antibody Deficiency
Hyperimmunoglobulin M Syndrome
Combined Immunodeficiency Disorders
Severe Combined Immunodeficiency
Combined Immune Deficiencies
Purine Nucleoside Phosphorylase Deficiency
Hyperimmunoglobulin E Syndrome
Immunodeficiencies With Syndromic Features
Wiskott-Aldrich Syndrome
Ataxia-Telangiectasia
DiGeorge Syndrome (22q Deletion Syndrome) and Other Thymic Defects
Cartilage-Hair Hypoplasia
Complement System Deficiencies
Diagnosis of Complement Deficiencies
Phagocytic Disorders
Disorders of Neutrophil Numbers
Inherited Forms of Neutropenia
Acquired Neutropenia
Disorders of Neutrophil Adhesion and Chemotaxis
Disorders of Neutrophil Function
Disorders of Macrophage Function
Immune Disregulation Syndromes
Hemophagocytic Lymphohistiocytosis
X-Linked Lymphoproliferative Disease Type 1 and Type 2
Immune Disregulation, Polyendocrinopathy, Enteropathy, X-Linked and Related Disorders
CD25 Deficiency
Signal Transducer and Activator of Transcription Protein 5B Deficiency
Cytotoxic T-Lymphocyte Antigen 4 Deficiency
Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy
Autoimmune Lymphoproliferation Syndrome
Bibliography
Section 11: Endocrine and Metabolic Disorders
Chapter 55: Disorders of Puberty
Normal Pubertal Development
Terminology
Anatomy
Physiology
Perinatal Period and Infancy
Childhood
Adolescence
Sex Steroid Effects
Chronology of Puberty
Females
Males
Clinical Staging of Puberty
Females
Males
Females and Males
Family Patterns
Precocious Puberty
Definition
Normal Variants
Idiopathic Isolated Premature Thelarche
Idiopathic Isolated Precocious Adrenarche
Isosexual Central Precocious Puberty
Incomplete Isosexual Precocity (Precocious Pseudopuberty)
Androgen Exposure or Overproduction
Females
Males
Estrogen Overproduction
McCune-Albright syndrome
Neurofibromatosis type 1
Vaginal Bleeding
Gynecomastia
Diagnostic Approach to Precocious Puberty
Treatment of Precocious Puberty
General Issues
Central Precocious Puberty
Precocious Pseudopuberty (Incomplete Isosexual Precocity)
Delayed or Absent Puberty
Differential Diagnosis
Constitutional (Self-Limited) Delay of Growth and Puberty
Hypogonadotropic Hypogonadism
Kallmann syndrome
Hypergonadotropic Hypogonadism: Males
Klinefelter syndrome
Hypergonadotropic Hypogonadism: Females
Turner syndrome
Females with Delayed or Absent Adrenarche
Diagnostic Approach to Delayed Puberty
Treatment of Delayed Puberty
Bibliography
Chapter 56: Short Stature
Definition
Normal Growth
Fetal Growth and Birth Size
Postnatal Growth Patterns
Measuring a Child
Body Proportions
Familial and Genetic Factors
Ethnic Factors and Secular Trend
General Well-Being
Psychological Factors
Endocrine Regulation of Growth
Bone Age
Causes of Short Stature
Normal Variants
Familial Short Stature
Constitutional Delay of Growth and Puberty
Idiopathic Short Stature
Small for Gestational Age
Endocrine Disorders
Growth Hormone Deficiency
Growth Hormone Deficiency Presenting in the Neonatal Period
Growth Hormone Deficiency in Childhood
Acquired Growth Hormone Deficiency
Growth Hormone Insensitivity
Hypothyroidism
Glucocorticoid Excess (Cushing Syndrome)
Genetic Causes of Short Stature
Turner Syndrome
Down Syndrome
Prader-Willi Syndrome
Russell-Silver Syndrome/Silver-Russell Syndrome
Short Stature HomeoboX (SHOX) Gene Variants
Noonan Syndrome
Malnutrition
Chronic Illness
Emotional Deprivation
Iatrogenic Causes
Bone Dysplasias
Achondroplasia
Hypochondroplasia
Osteogenesis Imperfecta
Evaluating the Child with Short Stature
Important Considerations in the History
Pregnancy and Birth History
Infancy and Childhood
Review of Systems
Family History
Physical Examination
Therapeutic Options
Specific Treatment of the Primary Disorder
Sex Steroids
Estrogen
Counseling
Growth Hormone Therapy
Other Treatments
Bibliography
Chapter 57: Hypoglycemia
Definition of Hypoglycemia
Regulations of Blood Glucose Concentration
Clinical Manifestations
Causes of Transient Neonatal Hypoglycemia
Normal Newborns
Newborns Small for Gestational Age and Premature Infants
Infants of Diabetic Mothers
Perinatal Stress-Induced Hyperinsulinism
Erythroblastosis Fetalis
Intrapartum Maternal Glucose Administration
Maternal Drug Therapy
Beckwith-Wiedemann Syndrome
Causes of Persistent Hypoglycemia in Infants and Children
Hyperinsulinism
Recessive KATP Channel Hyperinsulinism
Focal KATP Channel Hyperinsulinism
Dominant KATP Channel Hyperinsulinism
Dominant Glutamate Dehydrogenase Hyperinsulinism
Dominant Glucokinase Hyperinsulinism
Insulinoma
Insulin Reaction, Oral Hypoglycemic Agents, and Surreptitious Insulin Administration
Counter-Regulatory Hormone Deficiencies
Hypopituitarism
Isolated Cortisol Deficiency
Epinephrine Deficiency
Metabolic Enzyme Defects
Hepatic Gluconeogenesis
Glucose-6-phosphatase deficiency (glycogen storage disease type 1a and type 1b)
Glucose transporter 2 deficiency (Fanconi-Bickel syndrome)
Fructose-1,6-diphosphatase deficiency
Pyruvate carboxylase deficiency
Hepatic Glycogenolysis
Debrancher enzyme deficiency (type 3 glycogen storage disease)
Phosphorylase/phosphorylase kinase deficiency
Glycogen synthase deficiency
Fatty Acid Oxidation Disorders
Other Metabolic Causes of Hypoglycemia
Glucose transporter 1 deficiency
Hereditary fructose intolerance
Galactosemia (galactose-1-phosphate uridyl transferase deficiency)
Reactive Hypoglycemia
Glutamate dehydrogenase-hyperinsulinism, hyperinsulinism/hyperammonemia syndrome
Post–Nissen fundoplication hypoglycemia (late dumping syndrome)
Hereditary fructose intolerance
Ketotic Hypoglycemia
Diagnosis of Hypoglycemia
Critical Samples
Fasting Study
Useful “Casual Specimen” Tests
Glucagon Stimulation
Acute Insulin Response Tests for Hyperinsulinism
Plasma Acyl-Carnitine Profile
Urinary Organic Acid Quantitation
Cultured Cells
Genetic Analysis
Treatment of Hypoglycemia
Bibliography
Chapter 58: Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Voiding Physiology
Toilet Training
Urine Volume and Solute Diuresis
History
Polyuria
Voiding History
Primary Nocturnal Enuresis
Behavioral Issues
Physical Examination
Diagnosis
Laboratory Assessment
Imaging and Cystometry
Differential Diagnosis
Primary Nocturnal Enuresis
Daytime Urinary Incontinence
Mild voiding dysfunction
Moderate voiding dysfunction
Severe dysfunctional voiding
Special considerations
Neuropathic Bladder
Anatomic Defects
Posterior urethral valves and urethral obstruction
Renal duplication
Vesicoureteral reflux
Metabolic Disorders
Hypercalcemia
Hypokalemia
Diabetes mellitus
Central Diabetes Insipidus
Renal Concentrating Defects
Renal tubular acidosis
Sickle cell disease
Nephronophthisis
Nephrogenic diabetes insipidus
Treatment
Primary Nocturnal Enuresis
Daytime Urinary Incontinence
Polyuria
Neuropathic Bladder and Anatomic Disorders
Bibliography
Chapter 59: Acid–Base and Electrolyte Disturbances
Acid–Base Balance
Acid–Base Disorders
Symptoms of Acid–Base Disorders
Renal Regulation of Acid–Base Balance
Metabolic Acidosis
Normal Anion Gap (Hyperchloremic) Metabolic Acidosis
Renal Tubular Acidosis
Additional Causes of Renal Loss of Bicarbonate
Gastrointestinal Loss of Bicarbonate
Miscellaneous Causes of Hyperchloremic Acidosis
Recovery from ketoacidosis
Dilutional acidosis
Parenteral alimentation
Increased Anion Gap Acidosis
Increased Acid Production
Diabetic ketoacidosis
Lactic acidosis
Inborn errors of metabolism
Poisonings
Failure of Acid Excretion
Treatment of Metabolic Acidosis
Metabolic Alkalosis
Factors Initiating Metabolic Alkalosis
Factors Responsible for Sustaining Alkalosis
Differential Diagnosis of Metabolic Alkalosis
Urinary Chloride Level Lower Than 15 mEq/L
Chloride-deficient diet
Upper gastrointestinal losses
Chloride-secreting diarrhea
Diuretic therapy
Hypercapnia
Seasonal hypokalemic metabolic alkalosis
Urinary Chloride Level Higher Than 20 mEq/L with Hypertension
Urinary Chloride Level Higher Than 20 mEq/L with Normal Blood Pressure
Bartter syndrome and Gitelman syndrome
Treatment of Metabolic Alkalosis
Respiratory Acidosis
Respiratory Alkalosis
Mixed Acid–Base Disorders
Potassium Disorders
Hypokalemia
Increased Renal Losses with Hypertension
Mineralocorticoid Excess
Liddle Syndrome
Increased Renal Losses with Normal Blood Pressure
Increased Extrarenal Losses
Redistribution
Consequences of Hypokalemia
Treatment of Hypokalemia
Hyperkalemia
Reduced Urinary Potassium Excretion
Renal Failure
Hypoaldosteronism
Drugs
Primary Tubular Defects
Increased Potassium Intake/Tissue Release
Redistribution
Consequences of Hyperkalemia
Treatment of Hyperkalemia
Sodium Disorders
Hyponatremia
Hypovolemic Hyponatremia
Euvolemic Hyponatremia
Hypervolemic Hyponatremia
Clinical Signs and Symptoms of Hyponatremia
Treatment of Hyponatremia
Hypernatremia
Hypovolemic Hypernatremia
Euvolemic Hypernatremia
Hypervolemic Hypernatremia
Clinical Signs and Symptoms of Hypernatremia
Treatment of Hypernatremia
Calcium Disorders
Hypocalcemia
Hypercalcemia
Rickets
Clinical Manifestations
Bibliography
Section 12: Dermatology
Chapter 60: Congenital Cutaneous Lesions and Infantile Rashes
Rashes
Papules and Pustules—Diffuse or Scattered
Patches and Plaques
Fixed Lesions
Macules, Papules, and Pustules
Plaques and Patches
Pink (Vascular or Other)
Hyperpigmented or Darker Pigmented Lesions
Hypopigmented and Depigmented Lesions
Other
Transient and Physiologic Changes to the Skin
Cutis Marmorata
Harlequin Color Change
Acrocyanosis
Rare and Genetic Disorders
Epidermolysis Bullosa
Ichthyosis
Neutrophilic Dermatosis
Immune Disregulation
Bibliography
Chapter 61: Acquired Rashes in the Older Child
History, Physical Examination, and Diagnostic Procedures
History
Physical Examination
Primary Lesions
Secondary Lesions
Diagnostic Techniques
Potassium Hydroxide Test
Tzanck Smear
Scabies Test
Gram Stain
Wood Lamp Examination
Skin Biopsy
Dermatologic Disorders in Older Infants and Children
Scaling Disorders
Pityriasis Rosea
Psoriasis
Pityriasis Lichenoides
Lichen Planus
Seborrheic Dermatitis
Atopic Dermatitis
Vascular Lesions
Spider Angioma (Nevus Araneus)
Pyogenic Granuloma
Disorders of Pigmentation
Acquired Disorders of Hypopigmentation or Depigmentation
Postinflammatory Hypopigmentation
Pityriasis Alba
Vitiligo
Disorders of Hyperpigmentation
Lentigines
Café-Au-Lait Macules
Postinflammatory Hyperpigmentation
Acquired Melanocytic Nevi
Melanoma
Reactive Erythemas
Morbilliform Drug Eruption
Severe Cutaneous Adverse Reaction to Drugs
Fixed Drug Eruption
Hypersensitivity Reactions
Allergic Contact Dermatitis
Urticaria
Erythema Multiforme
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Complex
Bullous Lesions
Staphylococcal Scalded Skin Syndrome
Epidermolysis Bullosa
Purpura and Petechiae
Immunoglobulin A Vasculitis (Henoch-Schönlein Purpura)
Livedo Reticularis, Livedo Racemosa (Retiform Purpura)
Hair Loss
Alopecia Areata
Tinea Capitis
Traction Alopecia
Trichotillomania
Telogen Effluvium
Infections and Infestations
Impetigo
Nonbullous Impetigo
Bullous Impetigo
Molluscum Contagiosum
Warts
Common Warts
Flat Warts
Plantar Warts
Genital Warts
Herpes Simplex Virus
Varicella
Herpes Zoster
Scabies
Pediculosis
Candidiasis
Dermatophytoses
Tinea Capitis
Tinea Corporis
Tinea Pedis
Tinea Faciei
Tinea Cruris
Tinea Versicolor
Acne Vulgaris
Lumps and Bumps
Granuloma Annulare
Juvenile Xanthogranuloma
Erythema Nodosum
Bibliography