A 16-year-old boy with angiokeratomas, episodes of acroparesthesia, and corneal verticillata develops proteinuria. Electron microscopy of his renal biopsy shows lamellated myelin-like inclusion bodies within enlarged podocytes. The stored substrate accumulating in these cells is:
- A Ceramide trihexoside (globotriaosylceramide) ✓
- B Glucocerebroside
- C Sulfatide
- D Sphingomyelin
Correct answer: A. Ceramide trihexoside (globotriaosylceramide)
Explanation
Fabry disease is an X-linked deficiency of alpha-galactosidase B causing accumulation of ceramide trihexoside (globotriaosylceramide) in podocytes, endothelium and other cells. Electron microscopy shows concentric lamellated myelin figures or zebra bodies within lysosomes. Glucocerebroside accumulates in Gaucher disease, sphingomyelin in Niemann-Pick disease and sulfatide in metachromatic leukodystrophy, none of which produce this combination of angiokeratoma and podocyte zebra bodies.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.