Gaucher's disease in a child with Isolated Splenomegaly - An unusual clinical presentation

Authors

  • Ishita Gupta Mahatma Gandhi University Of Medical Sciences And Technology
  • Garima Sharma Mahatma Gandhi University of Medical Sciences and Technology, Sitapura, Jaipur, Rajasthan 303905
  • Natwar Parwal Mahatma Gandhi University of Medical Sciences and Technology, Sitapura, Jaipur, Rajasthan 303905
  • R. M. Jaiswal Mahatma Gandhi University of Medical Sciences and Technology, Sitapura, Jaipur, Rajasthan 303905
  • Anjana Mittal Mahatma Gandhi University of Medical Sciences and Technology, Sitapura, Jaipur, Rajasthan 303905

DOI:

https://doi.org/10.7439/ijbar.v8i1.3906

Keywords:

Polyhydroxyalkonates, bioplastic, biodegradation, environment

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).

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References

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Published

2017-02-01

Issue

Vol. 8 No. 1 (2017): Jan

Section

Case Report

License

Copyright (c) 2017 International Journal of Biomedical and Advance Research

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How to Cite

Gaucher’s disease in a child with Isolated Splenomegaly - An unusual clinical presentation. (2017). International Journal of Biomedical and Advance Research, 8(1), 31-33. https://doi.org/10.7439/ijbar.v8i1.3906
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