Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients

Abstract

SUMMARY The clinical phenotype in Lesch‐Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had RÉSUMÉ La maladie de Lesch‐Nyhan: revue d'une expérience clinique chez 19 sujets ZUSAMMENFASSUNG Lesch‐Nyhan Syndrom: eine Zusammenfassung der klinischen Erfahrungen mit 19 Patienten An 19 Patienten, die im Krankenhaus behandelt wurden, wurde der klinische Phänotyp des Lesch‐Nyhan Syndroms analysiert. Die Diagnose wurde in jedem Fall durch den Inaktivitätsnachweis des Enzyms Hypoxanthinguaninphosphoribosyltransferase im Erythrocytenlysat gestellt. Alle Patienten hatten eine Hyperuricaemie und bei den meisten Fällen wurde als erster Hinweis der ‘orangefarbene Sand’ in der Windel angegeben. Alle hatten ein selbstzerstörerisches Verhalten, das charakteristischste war das Kauen an Fingernägeln und Lippen. Neurologisch wurde bei allen eine Spastik und unwillkürliche choreoathetoide Bewegungen gefunden. Alle mit einer Ausnahme hatten einen erniedrigten Intelligenzquotienten. RESUMEN Enfermedad de Lesch‐Nyhan: revision y experiencia clinica con 19 pacientes Se analizó el fenotipo clinico en la enfermedad de Lesch‐Nyhan en 19 pacientes hospitalizados. En cada caso el diagnóstico se hizo basándose en la inactividad del enzima hipoxantina guanina fosforibosiltransferasa en eritrocitos lisados. Todos tenian hiperuricemia y la presencia de ‘arena naranja’ en el pañal fue una observación prominente precoz. Todos tenian un comportamiento automutilante, siendo la forma más caracteristica el morderse los dedos o los labios. Todos tenian el sindrome neurológico de espasticidad y movimientos involuntarios coreoatetósicos. Todos, excepto un caso, tenian una inteligencia por debajo de la normal.

Self‐injurious behaviour in young children with Lesch‐Nyhan syndrome

“…Dizmang and Cheatham 1970, Christie et al 1982, Anderson and Ernst 1994. All three of the boys with Lesch-Nyhan syndrome in the present study showed lip and/or finger biting before the age of 3 years.…”

“…This hypothesis has arisen from three main observations. First, all individuals with the syndrome show the behaviour, which appears to start on average in the third year of life and then continues inexorably thereafter (Christie et al 1982). Second, the topographies seem more predictable in Lesch-Nyhan syndrome, in that lip and cheek biting almost always occur in the early years, and other behaviours, such as trapping fingers in door hinges and wheel-spokes of wheelchairs, often appear later.…”

“…The disorder has an X-linked pattern of inheritance, occurring in 1 in 800 000 (Harris 1992). It is often diagnosed late and frequently misdiagnosed as athetoid cerebral palsy (Christie et al 1982). A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable selfinjurious behaviour (SIB), usually in the form of severe lip and finger biting or chewing that often requires extreme management techniques such as the application of restraints and/or extraction of teeth at an early age.…”

“…A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable selfinjurious behaviour (SIB), usually in the form of severe lip and finger biting or chewing that often requires extreme management techniques such as the application of restraints and/or extraction of teeth at an early age. While the syndrome is characterized by high levels of uric acid (Lesch and Nyhan 1964), reduction of these levels does not appear to affect the manifestation of self-injury (Christie et al 1982).…”

Bilateral Vesicoureteric Reflux may be a Rare Association in Lesch-Nyhan Syndrome: A Case Report

“…A consistent presentation in all cases of LNS is the abnormal compulsion toward selfmutilation usually reported after 1 year of age. 4,11 Perioral self-mutilating behavior is thought to begin with the eruption of teeth; patients then begin to bite themselves. The behavior continues and results in partial or total destruction of perioral tissue especially the lower lip.…”