Question

A child presents with bone pain and hepatosplenomegaly. A trephine biopsy and aspirate show the following finding. Which of the following is the most likely enzyme deficient in this condition?

• A. Hexosaminidase
• B. Glucocerebrosidase
• C. Sphingomyelinase
• D. Alpha 1,4-glucosidase

Answer 1

The Correct Option is B

A child presents with bone pain and hepatosplenomegaly, which are key symptoms suggestive of a lysosomal storage disorder. The trephine biopsy and aspirate findings further point towards a specific enzyme deficiency. Given the options, we need to identify which enzyme deficiency correlates with these clinical features. Let's evaluate each option:

• Hexosaminidase: Deficiency causes Tay-Sachs disease, typically characterized by neurological symptoms, not bone pain or hepatosplenomegaly.
• Glucocerebrosidase: Deficiency results in Gaucher's disease, known for symptoms such as bone pain, hepatosplenomegaly, and the presence of Gaucher cells in bone marrow.
• Sphingomyelinase: Deficiency leads to Niemann-Pick disease, which includes neurological symptoms and hepatosplenomegaly, but bone pain is less common.
• Alpha 1,4-glucosidase: Deficiency results in Pompe disease, causing cardiomyopathy and muscle weakness, not typically bone pain or significant hepatosplenomegaly.

Based on the clinical presentation of bone pain and hepatosplenomegaly, the most likely enzyme deficiency is glucocerebrosidase, associated with Gaucher's disease. Thus, the correct answer is:

Glucocerebrosidase