Source / episode info

• **Episode:**95
• **Title:**Divine Intervention Episode 95 – USMLE Step 2CK Rapid Review Series 2 (Peds)
• **Published:**2019-04-23
• Source:Episode page

One-liner

This rapid review covers high-yield pediatric topics including Cystic Fibrosis management and complications; neuroblastoma location/characteristics; specific seizure disorders (West, Absence, LGS); genetic syndromes like NF1, NF2, Down Syndrome, SMA, PWS/AS, and detailed differential diagnosis of nephritic and nephrotic syndromes.

High-yield summary

• Cystic Fibrosis: Classic presentation is a "salty baby" with malabsorption due to pancreatic insufficiency; associated infections include Pseudomonas (later age) and Bordetella pertussis. Treatment requires pancreatic enzyme replacement, acetylcysteine, and DNAs (Dornase alpha).
• Neuroblastoma: A neuro-based tumor classically found in the posterior mediastinum. Key diagnostic features are that it is often calcified and crosses the midline.
• Tuberous Sclerosis Complex (TSC): Associated with West Syndrome (infantile spasms) and characteristic skin findings like hypopigmented macules (ashleaf spots). Treatment for seizures includes ACTH or Vigabatrin.
• Nephrotic vs. Nephritic: Minimal Change Disease is the most common cause of nephrotic syndrome in children, presenting with foamy urine and minimal changes on EM. Post-infectious GN presents as a classic nephritic picture (hematuria, low C3, high ASO/anti-DNAsB).
• Genetic Syndromes: NF1 involves café-au-lait spots and increased risk of pheochromocytoma; NF2 is associated with bilateral acoustic neuromas. Down Syndrome (Trisomy 21) increases the risk for cardiac defects (AVSD), GI issues (Hirschsprung's), and ALL.
• Spinal Muscular Atrophy (SMA): Type 1 presents in infancy with hypotonia and fasciculations, caused by a defect in the SMN1 gene.

Learning objectives

• Differentiate the clinical presentations and underlying genetics of major pediatric syndromes (e.g., NF1 vs. NF2; PWS vs. AS).
• Recognize the classic triad/associations for common congenital anomalies and tumors (e.g., TSC, Neuroblastoma, Down Syndrome).
• Master the differential diagnosis between nephritic and nephrotic syndromes in children, linking findings to specific etiologies (MCD, PIGN).
• Understand the pathophysiology and management of various seizure disorders encountered in pediatrics (West syndrome, Absence seizures).
• Identify key screening protocols and complications associated with chromosomal abnormalities (e.g., Atlanta Accelerate Instability in Down Syndrome).