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Current Trends In Medical And Clinical Case Reports

The Curious Case Of “Lesch-Nyhan” Syndrome

Amrita Akhilesh Sivasanker

 

Assistant Professor in Laxmi Bai Batra College of Nursing (Indraprastha University, New Delhi), India

 

*Corresponding Author: Amrita Akhilesh Sivasanker, Assistant Professor in Laxmi Bai Batra College of Nursing (Indraprastha University, New Delhi), India, E-mail Id: [email protected]

 

Citation: Amrita Akhilesh Sivasanker (2020) The Curious Case Of “Lesch-Nyhan” Syndrome. Current Trends Med Clin Case Rep, 1(1); 1-3

 

Copyright: © 2020, Sivasanker AA, This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

 

ABSTRACT

 

Lesch-Nyhan is a rare disorder related to X-linked recessive genes, which occurs exclusively in males. This happens due to mutation of Xq26 chromosome and deficiency of hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme. LNS is characterised by classical triad of symptoms Hyperuricemia, Spectrum of neurological dysfunctions, cognitive and behavioural disturbances including self mutilation. The symptoms occurs due to increase accumulation of uric acid in the body fluids to dangerous levels. Here we present a case of 2-year old child admitted in department of paediatrics with self mutilation, increased uric acid levels, delayed milestones, renal failure. After investigations diagnosis of LNS was established through various examinations.

 

KEYWORDS: Lesch-Nyhan syndrome, Hyperuricemia, Self mutilation, Hypoxanthine

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