Question

A child presents to you with anemia, thrombocytopenia, and bony pain. On examination, hepatosplenomegaly was noticed. If light microscopy of bone marrow aspirate reveals “crumpled tissue paper” appearance, what is the enzyme defect?

• A. Glucocerebrosidase
• B. Sphingomyelinase
• C. Hexosaminidase
• D. Glucose6-phosphatase

Answer 1

The Correct Option is A

The clinical presentation described includes anemia, thrombocytopenia, bony pain, and hepatosplenomegaly, combined with the unique histological finding of a "crumpled tissue paper" appearance in the bone marrow aspirate. These findings are characteristic of Gaucher disease, which is a lysosomal storage disorder. It is caused by a deficiency in the enzyme glucocerebrosidase. Patients with this enzyme deficiency accumulate glucocerebroside in macrophages, leading to the formation of Gaucher cells, which are the cells that exhibit the mentioned "crumpled tissue paper" appearance.