Lesch-Nyhan syndrome: case brief of a rare disease

Sunil Kumar Agarwalla; Jagatshreya Satapathy

doi:10.18203/2320-6012.ijrms20184443

Authors

Sunil Kumar Agarwalla Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India
Jagatshreya Satapathy Department of Pediatrics, MKCG Medical College, Berhampur, Odisha, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20184443

Keywords:

HPRT deficiency, Hyperuricemia, Lesch-Nyhan Syndrome, Transverse sinus

Abstract

Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia, measures to prevent self-mutilation and behavioural therapy. This case is that of an eight months old child coming for respiratory symptoms and self-mutilation, who was ultimately diagnosed with Lesch- Nyhan syndrome.

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