Vol. 4, Issue 3, Part B (2021)
Gaucher disease: A case study
Author(s):
Dr. Mustafa Ranapurwala, Dr. Keyuri Patel, Dr. Krishna Panchal and Dr. Munira Jhabbuawala
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.
Pages: 83-85 | 1215 Views 511 Downloads
How to cite this article:
Dr. Mustafa Ranapurwala, Dr. Keyuri Patel, Dr. Krishna Panchal and Dr. Munira Jhabbuawala. Gaucher disease: A case study. Int. J. Clin. Diagn. Pathol. 2021;4(3):83-85. DOI: 10.33545/pathol.2021.v4.i3b.392
