Gaucher's disease in a child with Isolated Splenomegaly - An unusual clinical presentation
Journal Title: International Journal of Biomedical and Advance Research - Year 2017, Vol 8, Issue 1
Abstract
Gauchers disease is an autosomal recessive, lipid storage (sphingolipid) disorder caused by mutations in the beta-glucocerebrosidase gene leading to deficient activity of enzyme. There are three types of Gauchers disease out of which Type 1 Gaucher's disease is most common and usually presents as Splenohepatomegaly. Here we are reporting a case of type-1 Gaucher's disease presenting with isolated splenomegaly at a younger age (2 year).
Authors and Affiliations
Ishita Gupta, Garima Sharma, Natwar Parwal, R. M. Jaiswal, Anjana Mittal
Keywords
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- EP ID EP383030
- DOI 10.7439/ijbar.v8i1.3906
- Views 120
- Downloads 0
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