Literature DB >> 3588889

[Cranial computerized tomography in incomplete Lesch-Nyhan syndrome].

M Holdeigel.   

Abstract

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.

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Year:  1987        PMID: 3588889

Source DB:  PubMed          Journal:  Radiologe        ISSN: 0033-832X            Impact factor:   0.635


  1 in total

1.  Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

Authors:  David J Schretlen; Mark Varvaris; Tiffany E Ho; Tracy D Vannorsdall; Barry Gordon; James C Harris; H A Jinnah
Journal:  Lancet Neurol       Date:  2013-12       Impact factor: 44.182

  1 in total

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