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Pediatrics Inborn Errors of Metabolism cd4d2102

A 3-year-old child presented with anemia and thrombocytopenia. On examination, there was massive splenomegaly. A bone marrow aspiration revealed the following cells. What is the diagnosis?

A
Mucopolysaccharidosis
B
Gaucher disease
C
Acute Leukemia
D
Thalassemia
High-Yield Explanation
b. Gaucher diseasePancytopenia with massive splenomegaly in a child with bone marrow showing Gaucher cells' with 'crumpled tissue paper' appearance of cytoplasm are seen in Gaucher disease

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