A 6-month-old infant presents with irritability, feeding difficulties, progressive spasticity, and optic nerve atrophy. Brain biopsy shows multinucleated globoid cells around blood vessels. Which substrate accumulates in this condition?

• A Glucocerebroside
• B Sulfatide
• C Sphingomyelin
• D Galactocerebroside ✓

Explanation

Krabbe disease (globoid cell leukodystrophy) results from galactocerebrosidase deficiency, causing galactocerebroside accumulation. The pathognomonic globoid cells are multinucleated macrophages in perivascular regions. Glucocerebroside accumulates in Gaucher disease. Sphingomyelin accumulates in Niemann-Pick. Sulfatide accumulates in metachromatic leukodystrophy.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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