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What is A 3- year old child has hepatosplenomegaly. On examination of the bone marrow, large cells are seen with crumpled paper appearance. Which of the following must have accumulated in these cells? and explain in detail?
Ans. b. Glucocerebroside (Ref. Robbins 9/ p153, 8/e p153)A child who presents with hepatosplenomegaly and pancytopenia, on bone marrow biopsy, large cells with crumpled tissue paper appearance is seen. The clinical picture is suggestive of Gaucher's disease, caused by deposition of Glucocerebroside.