Peds 21

Case Discussions

Case 1: Sleep Terror Disorder

• Patient: 4.5-year-old male with night agitations, no memory of events
• Diagnosis: Sleep terror disorder
• Management: Reassurance, no intervention needed
• Differentiation: Contrast from nightmare disorder (recalls bad dreams, occurs during REM sleep)

Case 2: Bruton's Agammaglobulinemia

• Patient: 18-month-old male, recurrent bacterial infections, family history of severe strep pneumo infection
• Diagnosis: Bruton's agammaglobulinemia (X-linked, affects boys)
• Pathophysiology: BTK gene mutation, lack of B-cell proliferation
• Diagnostic: Reduced levels of all immunoglobulins, CD19 and CD20 positive
• Treatment: IVIG injections
• Presentation: Typically after 6 months of age (maternal IgG wanes)

Immunodeficiency Syndromes Overview

• Bruton's Agammaglobulinemia: X-linked, boys, recurrent respiratory & GI infections
• IgA Deficiency: Older kids, anaphylaxis with blood transfusions
• Wiskott-Aldrich Syndrome: Thrombocytopenia, eczema, X-linked
• Ataxia Telangiectasia: Ataxia (first), telangiectasia, lymphoma risk
• SCID (Severe Combined Immunodeficiency): ADA deficiency, IL-2 receptor defect, early onset, recurrent bacterial/viral/fungal infections
• Leukocyte Adhesion Deficiency: No pus, delayed umbilical cord separation
• CVID (Common Variable Immunodeficiency): Older kids, reduced immunoglobulins
• DiGeorge Syndrome: T-cell deficiency, hypocalcemia, absent thymic shadow
• CGD (Chronic Granulomatous Disease): Recurrent catalase-positive infections, NBT or DHR test
• Chediak-Higashi Syndrome: Albinism, recurrent infections

Case 3: Wilms Tumor

• Patient: 18-month-old male, left infraumbilical mass, hypertension
• Diagnosis: Wilms tumor
• Differentiation: Unilateral, non-calcified, doesn’t cross midline (vs. neuroblastoma)
• Associations: WAGR complex, Beckwith-Wiedemann syndrome
• Diagnosis: Ultrasound followed by CT
• Treatment: Surgical resection

Case 4: Fetal Alcohol Syndrome

• Patient: Child with microcephaly, thin upper lip, smooth philtrum, behavioral problems
• Associations: ADHD, VSD, symmetric IUGR

Case 5: Kawasaki Disease

• Patient: 2-year-old female, bilateral conjunctival injection, cracked lips, erythema, lymphadenopathy, high fever
• Diagnosis: Kawasaki Disease
• Management: IVIG and aspirin to prevent coronary artery aneurysms
• Complications: Gallbladder hydrops

Lyme Disease in Pediatrics

• Patient: 7-year-old male with fever, joint pain, class trip to Connecticut
• Diagnosis: Lyme disease
• Treatment: Amoxicillin for children <8 years old
• Complications: Cardiac or neurological issues treated with ceftriaxone

Various Pediatric Disorders

• Nursemaid Elbow: Radial head subluxation, treated with hypersupination or hyperpronation
• Osteomyelitis: Commonly caused by Staph aureus, specific pathogens based on age and context
• Still’s Disease (Systemic Juvenile Idiopathic Arthritis): Recurring fever, salmon-colored rash, hepatosplenomegaly, treated with NSAIDs or methotrexate
• SCFE (Slipped Capital Femoral Epiphysis): Obese male teens, treated with surgical pinning
• Developmental Dysplasia of the Hip (DDH): Clicky hip, treated with Pavlik harness
• Legg-Calvé-Perthes Disease: Insidious hip pain, antalgic gait, avascular necrosis
• Osgood-Schlatter Disease: Pain over anterior tibial tubercle, treated with NSAIDs and rest

Cystic Fibrosis

• Pathophysiology: CFTR gene mutation, Delta F508, AR inheritance
• Symptoms: Pancreatic insufficiency, recurrent respiratory infections (Staph aureus <20, Pseudomonas >20)
• Diagnosis: Sweat chloride test
• Management: Pancreatic enzymes, vitamins, pulmonary toilet, tobramycin

Pediatric Infections and Syndromes

• RSV (Respiratory Syncytial Virus): Bronchiolitis in children <2 years, treated with supportive care, ribavirin for high-risk groups
• Croup (Laryngotracheobronchitis): Barky cough, treated with racemic epinephrine
• Epiglottitis: Caused by Haemophilus influenzae B, thumbprint sign on x-ray, prepare for emergent intubation
• Coanal Atresia: Cyanosis at rest, pink when crying, part of CHARGE association
• Tuberous Sclerosis: Infantile spasms, hypopigmented macules, cardiac rhabdomyoma, renal angiomyolipoma, treated with ACTH or vigabatrin

Genetic and Metabolic Disorders

• Prader-Willi Syndrome: Obesity, hypotonia, chromosome 15 deletion
• Angelman Syndrome: Happy demeanor, ataxia, chromosome 15 deletion
• Fragile X Syndrome: Long face, large ears, large testicles, CGG repeat
• Cri-du-chat Syndrome: Intellectual disability, cat-like cry
• Turner Syndrome: Short stature, webbed neck, coarctation of the aorta
• Klinefelter Syndrome: Tall male, gynecomastia, XXY karyotype

Pediatric Cardiology

• Tetralogy of Fallot: Cyanotic heart defect, Tet spells, decreased pulmonary vascular markings
• Transposition of the Great Arteries: Egg on a string heart appearance, requires PGE1 analog
• Atrial Septal Defect (ASD): Wide fixed split S2, right heart enlargement
• Ventricular Septal Defect (VSD): Holosystolic murmur, increased pulmonary vascular markings
• Tricuspid Atresia: Single S2, left axis deviation on EKG
• Coarctation of the Aorta: Rib notching, Turner syndrome association

Miscellaneous Pediatric Conditions

• Necrotizing Enterocolitis (NEC): Pneumatosis intestinalis, preemie, treated with surgery if perforation
• Pyloric Stenosis: Non-bilious vomiting, hypochloremic metabolic alkalosis, treated with electrolyte correction and surgery
• Hirschsprung’s Disease: Failure to pass meconium, Down syndrome association, requires surgery
• Physiologic Jaundice: Unconjugated hyperbilirubinemia, resolves with time or phototherapy
• Meckel's Diverticulum: Painless rectal bleeding, technetium scan diagnosis
• Infantile Spasms (West Syndrome): Treated with ACTH or vigabatrin, associated with tuberous sclerosis
• Congenital Infections (TORCH): Rubella, Toxoplasmosis, CMV, Syphilis
• Pertussis (Whooping Cough): Severe cough, treated with macrolides
• Mumps: Parotitis, orchitis, risk of infertility