DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20184443

Lesch-Nyhan syndrome: case brief of a rare disease

Sunil Kumar Agarwalla, Jagatshreya Satapathy

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.

 


Keywords


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

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References


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