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.
How to cite this article:
Dr. Mustafa Ranapurwala, Dr. Keyuri Patel, Dr. Krishna Panchal and Dr. Munira Jhabbuawala. Gaucher disease: A case study. International Journal of Clinical and Diagnostic Pathology. 2021; 4(3): 83-85. DOI: 10.33545/pathol.2021.v4.i3b.392