ISSN (Online): 2035-648X
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Case report: the Lesch-Nyhan syndrome

Type:  Articles

Pubblication date:  /2/2004

Authors:  C.M.K. Benz, A.M.T. Reeka-Bartschmid, F.G. Agostini

Language:  English

Institution:  Paediatric dentist, Landshut, Germany

Publication:  European Journal of Paediatric Dentistry

Publisher:  Ariesdue Srl

Keywords:  Lesch-Nyhan syndrome (LNS), Autocannibalism, Self-mutilation, Hypoxanthine guanine phosphoribosyl transferase (HGPRT).

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Title:  Case report: the Lesch-Nyhan syndrome

Abstract:  Background The Lesch-Nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). Case report In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, Germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history revealed a normal pregnancy with no complications but a diagnosis of muscular hypotonia was made at four months of age. At 18 months a diagnosis of LNS was established through biochemical analysis and molecular examinations. The child displayed self-destructive behaviour, typical in children with LNS. Shortly thereafter the patient was supplied with arm cuffs for self-protection which were not tolerated and the self-mutilation continued. Eventually the extraction of all primary teeth was deemed necessary to prevent additional medical problems for this child. Follow-up One year after the dental extractions the patient presented with no bite injuries but was now using his fingers to injure himself.

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