A 2-month-old infant presents with failure to thrive, vomiting, hepatosplenomegaly, and bilateral calcification of the adrenal glands on CT scan. Foam cells are found in the bone marrow. The defect is in which enzyme?
- A Acid sphingomyelinase
- B Lysosomal acid lipase ✓
- C Galactocerebrosidase
- D Glucocerebrosidase
Correct answer: B. Lysosomal acid lipase
Explanation
Wolman disease results from a deficiency of lysosomal acid lipase, leading to massive accumulation of cholesteryl esters and triglycerides in lysosomes. The hallmark clinical feature is bilateral adrenal calcification visible on imaging. Glucocerebrosidase deficiency causes Gaucher disease, characterized by crumpled tissue paper cells. Acid sphingomyelinase deficiency causes Niemann-Pick disease, which presents with cherry-red spots and foam cells.
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.