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A Curious Case of Lesch-Nyhan Syndrome

Amrita A. Sivasanker*

Lakshmi Bai Batra College of Nursing, I.P University, New Delhi, India.

Periodicity:February - April'2021
DOI : https://doi.org/10.26634/jnur.11.1.17578

Abstract

Lesch–Nyhan is a rare disorder related to X-linked recessive genes that occurs exclusively in males. This happens due to the mutation of Xq26 chromosome and deficiency of Hypoxanthine Guanine Phospho Ribosyl Transferase (HGPRT) enzyme. LNS is characterized by classical triad of symptoms like Hyperuricemia, Spectrum of neurological dysfunctions, cognitive and behavioural disturbances including self mutilation. The symptoms occur due to the increased accumulation of uric acid in the body fluids to dangerous levels. The treatment should focus on decreasing serum uric acid level and maintenance of neurologic symptoms. Here we present a case of a 2-year old child admitted in the Department of Pediatrics with self mutilation, increased uric acid levels, delayed milestones and renal failure. After investigations, the diagnosis of LNS was established through various examinations.

Keywords

Lesch-Nyhan Syndrome (LNS), Hyperuricemia, Self Mutilation, Hypoxanthine Guanine Phospho Ribosyl Transferase (HGPRT).

How to Cite this Article?

Sivasanker, A. A. (2021). A Curious Case of Lesch-Nyhan Syndrome. i-manager's Journal on Nursing, 11(1), 34-38. https://doi.org/10.26634/jnur.11.1.17578

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