[Cranial computerized tomography in incomplete Lesch-Nyhan syndrome].
The CT brain scan of a 17-year-old patient with primary hyperuricaemia and mental retardation is presented. The examination demonstrates subcortical and cortical atrophy of the brain. The HGPRTase level was below normal. Clinical evidence of self-mutilation or tophi was not found. This patient's condition was interpreted as an incomplete Lesch-Nyhan syndrome.
D000293:Adolescent; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007926:Lesch-Nyhan Syndrome / Q000473:pathology*; D008297:Male; D014057:Tomography, X-Ray Computed
D007041:Hypoxanthine Phosphoribosyltransferase
Craniales Computertomogramm bei inkomplettem Lesch-Nyhan-Syndrom.