The Curious Case Of “Lesch-Nyhan” Syndrome
Assistant Professor in
Laxmi Bai Batra College of Nursing (Indraprastha University, New Delhi), India
Author: Amrita Akhilesh Sivasanker, Assistant Professor in Laxmi
Bai Batra College of Nursing (Indraprastha University, New Delhi), India,
E-mail Id: [email protected]
Amrita Akhilesh Sivasanker (2020) The Curious Case Of “Lesch-Nyhan” Syndrome.
Current Trends Med Clin Case Rep, 1(1); 1-3
© 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.
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.
syndrome, Hyperuricemia, Self mutilation, Hypoxanthine