An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; hypoxanthine PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)


with <b>Lesch</b>-<b>Nyhan Syndrome</b>.

with Lesch-Nyhan Syndrome.

22 <b>de</b> mayo <b>de</b> 2011

22 de mayo de 2011

<b>Lesch</b>-<b>Nyhan Syndrome</b>

Lesch-Nyhan Syndrome

pérdida <b>de</b> dedos y labios

pérdida de dedos y labios

<b>Síndrome de Lesch</b>-<b>Nyhan</b>

Síndrome de Lesch-Nyhan

<b>Síndrome de Lesch</b>-<b>Nyhan</b>

Síndrome de Lesch-Nyhan

August 16, 2013: <b>Lesch</b>–<b>Nyhan</b>

August 16, 2013: LeschNyhan

Lesiones <b>de</b> automutilación a

Lesiones de automutilación a

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Dernière mise à jour: Septembre 2014