title: Lesch-Nyhan syndrome: surgical treatment in a case with lip chewing. A case report.
abstract: Lesch-Nyhan Syndrome (LNS) is a biochemical disorder characterized by a virtually complete deficiency of an enzyme of purine metabolism, hypoxanthineguanine phosphoribosyltransferase. This sex-linked recessive inborn error of metabolism is characterized clinically by: hyperuricaemia, excessive production of uric acid, certain characteristic neurological features including self-mutilation, choreoathetosis, spasticity and mental retardation. This paper will review the clinical, biochemical and genetic features of Lesch-Nyhan Syndrome and report a case in which repeated lip chewing resulted in destruction of the lower lip and the need for surgical intervention.
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000503:physiopathology; D008046:Lip / Q000293:injuries* / Q000601:surgery; D008297:Male; D012652:Self Mutilation / Q000601:surgery*; D014081:Tooth Extraction