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?
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.
Niemann Pick disease
Gaucher disease
Acute Leukemia
Hereditary spherocytosis
Lysosomal Storage Diseases