Source / episode info
- **Episode:**423
- **Title:**Divine Intervention Episode 423: USMLE Step 2/3 Rapid Review Series 86
- **Published:**2022-11-01
- Source:Episode page
One-liner
This episode provides a rapid review covering high-yield genetic disorders defined by repeat expansion (Fragile X, Huntington's), age-specific hip pathologies (DDH, LCPD, SCFE), the clinical presentation of conversion disorder, and critical pediatric abdominal masses like Wilms Tumor, along with associated syndromes.
High-yield summary
- Genetic Disorders: Know the specific gene, repeat expansion type, and chromosome location for Fragile X (FMR1, CGG on X); Huntington's (HTT, CAG on Chr 4); Myotonic Dystrophy (DMPK, CTG on Chr 19).
- Hip Pathology Progression: The typical age progression of hip issues is Developmental Dysplasia of the Hip (newborn) -> Legg-Calvé-Perthes Disease (young males <10 years) -> Slipped Capital Femoral Epiphysis (obese adolescents >10 years).
- Wilms Tumor: Classically presents as a flank mass that does not contain calcifications. True hematuria is confirmed by seeing actual red blood cells on microscopy, distinguishing it from myoglobinuria.
- WAGR Complex: A constellation of findings: Wilms Tumor + Aniridia + Genitourinary anomalies + Intellectual Disability.
- Conversion Disorder: Defined by neuro deficits that are bizarre and lack a rational neurological localization; the patient often exhibits a "don't care" attitude toward symptoms.
Learning objectives
- Identify the genetic basis, repeat expansion type, and chromosomal location for major X-linked dominant disorders (Fragile X).
- Differentiate between age-specific hip pathologies: DDH, LCPD, and SCFE.
- Recognize the classic presentation of Wilms Tumor and its associated syndromes (WAGR, BWS, DDS).
- Apply clinical reasoning to diagnose conversion disorder based on inconsistent neurological findings and patient demeanor.
- Understand the pathophysiology of avascular necrosis in pediatric hip joints.
Board exam buzzwords