Gaucher’s disease is an autosomal recessive lipid storage disease characterised by deposition of glucocerebroside in cells of macrophage – monocyte system. The metabolic defect is due to the deficiency of the lysosomal hydrolases β-glucosidases. Incidence is approximately 1 in 40,000. An one year female child presented with history of prolonged fever, pallor and huge hepatosplenomegaly for 25 days. Clinical diagnosis of leukaemia was made. Routine haemogram reveals microcytic hypochromic anaemia. Ultrasound of abdomen and pelvis reveals hepatomegaly with fatty change and splenomegaly. Endoscopy reveals dilated veins at lower end of esophagus (? Early varix). Bone marrow aspiration study reveals normal haematopoesis admixed with distended macrophages in good number with wrinkled tissue paper like cytoplasm (? Gaucher’s cell). β glucocerebrosidase level found to be 0.9 unit (low) confirming the diagnosis of Gaucher disease.
