A 7-year-old girl has painless hepatosplenomegaly, easy bruising, and recurrent epistaxes. Platelet count is 70,000/mm3. Bone marrow aspiration shows large cells with fibrillary cytoplasm resembling crumpled tissue paper. Deficiency of which enzyme is responsible?
- A Glucocerebrosidase (acid beta-glucosidase) ✓
- B Hexosaminidase A
- C Sphingomyelinase
- D Arylsulfatase A
Correct answer: A. Glucocerebrosidase (acid beta-glucosidase)
Explanation
Gaucher disease type 1 results from glucocerebrosidase deficiency, causing glucocerebroside accumulation in macrophages that appear as lipid-laden 'crumpled tissue paper' cells on bone marrow smear. Hepatosplenomegaly with hypersplenism-induced thrombocytopenia is typical, and there is no central nervous system involvement in type 1. Sphingomyelinase deficiency defines Niemann-Pick disease, which shows foamy rather than wrinkled-tissue macrophages.
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.