PMID: 28527173May 21, 2017Paper

Gaucher Disease Presenting in an Adult with Intracerebral Bleed

The Journal of the Association of Physicians of India
Sandeep NemaniBiju George

Abstract

Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme replacement therapy. With splenectomy her platelet counts normalised and neurological status also improved.

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