Bone marrow examination of a 2 year old child with massive splenomegaly and pancytopenia showed cells with wrinkled paper appearance of cytoplasm. What could be the possible diagnosis?: (A) Niemann Pick disease, (B) Gaucher disease, (C) Acute Leukemia, (D) Hereditary spherocytosis
Answer is B. Given scenario suggests Gaucher disease Gaucher disease is the most common lysosomal storage disorder with a defect of lysosomal enzyme acid b glucosidase. Gaucher cells are lipid laden macrophages that show a characteristic histologic appearance of "wrinkled tissue paper" of cytoplasm.