A Case of Lesch Nyhan Syndrome
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A six-year-old boy with Lesch Nyhan syndrome was reported. The patient, who had been previously diagnosed of cerebral palsy, showed hyperuricemia (11.6mg/dl), self mutilation, mental retardation, dystonic movement and hypoxanthine-guanine phosphoribosyltran-ceferase (HGPRT) deficiency.Other two cases with hyperuricemia, asymptomatic father and a brother with signs of Lesch Nyhan syndrme, were found in the same family and consanguinity was proved.
- 西日本整形・災害外科学会の論文
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