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What is A 48-year old lady presented with bony pain and hepatosplenomegaly. On examination of biopsy speci!men from spleen, crumpled tissue paper appearance is seen. Which of the following product is likely to have accumulated? and explain in detail?
Ans: D. GlucocerebrosideGaucher's disease:* MC lysosomal storage disorder, autosomal recessive in inheritance.* Caused by deficiency of tissue enzyme glucocerebrocidase.Glucocerebrocidase:* Splits glucose from glucosyl ceramide. Hence, accumulates glucocerebroside.* Glucosyl ceramide - Cerebrocide accumulates in cell of reticuloendothelial system.Clinical history:* Hepatosplenomegaly with crumpled tissue paper appearance on biopsy - Highly suggestive of Gaucher's disease.* Pancytopenia & thrombocytopenia secondary to hypersplenism.* Widened marrow cavity - Due to Gaucher's cells deposition. - Expansion of bone is prominent - Especially at lower end of femur & humerus. - Causes pathologic fracture & bone pain.Treatment:* Enzyme replacement therapy done with natural or recombinant glucocerebrocidase.(Ref Harrison 19/e p432-e5; Robbins 9/e p151-154, 8/e p153; Nelson 20/e p708, 19/e p487, 488, 500)