MedicalRoundsabout 7 years ago
4 YO boy with severe repeated lip chewing
A 4 year old boy presents with severe and repeated lip chewing and aggressive tongue bitting. At 4 months diagnosis of hypotonia was made. Laboratory investigations revealed hyperuricemia. What is the most likely diagnosis? What is the deficient enzyme?
Top rated comment
about 7 years ago
Lesch-nyhan-syndrome.The Enzyme IS hypoxanthin-guanin-ribosyltransferase.
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about 7 years ago
1st when i saw the pictures without reading the diagnosis ,i was thought that he has cerebral palsy...
about 7 years ago
lesch nyhan syndrome deficiency of hypoxanthine guanine phosphoribosyltransferase
