Muhammad Saeed, Waffa Ibrahim Kadry, Abdullah Al Garni.
Lesch-nyhan syndrome.
Pak Paed J Jan ;35(2):103-5.

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder, is characterized by mental retardation, spasticity, extrapyramidal signs, hyperuricaemia and self-destructive behavior resulting in self-mutilation through biting and scratching. It is also known as Nyhan’s syndrome, Kelley-Seegmiller syndrome and Juvenile gout, caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), produced by mutations in the HPRT gene. We report a six year old boy with developmental retardation, involuntary movements, and self-injurious behavior.

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