Gaucher disease: A case study

Abstract

Background: Gaucher disease (GD) is an uncommon lysosomal storage disorder with an autosomal recessive inheritance pattern. Gaucher disease can affect anyone, occurring in up to 1 in 40,000 live births in the general population. It results from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system because of a deficiency in lysosomal glucocerebrosidase. Here we report a case of Gaucher Disease, rare in the Indian subcontinent. Case Report: We present a case of a young female who presented with a fracture due to a minor road traffic accident with a history of pallor, weakness, and gum bleeds with massive splenomegaly. Final diagnosis of G.D. was reported after examining the bone marrow smears.Conclusion: We report this case of GD to emphasize the clinical presentation that it might present with GD should be considered in the differential diagnosis of young adults with unexplained splenomegaly.