GAUCHER'S DISEASE- A RARE CASE REPORT

Gaucher's disease is a rare autosomal recessive lysosomal storage disease due to deficiency of acid beta glucosidase enzyme. The disease frequency varies from 1 in 1000 in Ashkenazi Jews to 1 in 1,00,000 in other populations (5).All patients with Gaucher's disease have non uniform infiltration of bone marrow by lipid laden macrophages termed Gaucher's cells(5). We present here a case of Gaucher's disease in a 17 year old patient who presented with anaemia, growth retardation, seizures,poor scholastic performance and excessive fatiguability. Bone marrow biopsy showed the characteristic Gaucher's cell and serum enzyme estimation was done to confirm the disease.