Abstract

Gaucher’s disease is an autosomal recessive and most common lysosomal storage disease characterized by glycocerebrosidase deficiency. The overall incidence is approximately 1:60,000 individuals. It is a multi-system disorder due to accumulation of glucosylceramide in tissues and organs and the main clinical features are Splenomegaly, Hepatomegaly, bone marrow infiltration leading to anemia, thrombocytopenia and leucopenia, and skeletal involvement leading to bone pain and pathological fracture. Serum ß-glucosidase levels confirms diagnosis, Enzyme replacement being the only definitive treatment. We report a 1.5 yr Fch, case of Gaucher’s disease presenting as Congenital Hemolytic Anemia.

Keywords: Gaucher’s disease, anemia, hepatomegaly, splenomegaly.