Lesch-Nyhan syndrome: surgical treatment in a case with lip chewing. A case report

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.