Case report: the Lesch-Nyhan syndrome.
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).


METHODS
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.


RESULTS
One year after the dental extractions the patient presented with no bite injuries but was now using his fingers to injure himself.
Benz
C M
CM
Paediatric dentist, Landshut, Germany.
Reeka-Bartschmid
A M
AM
Agostini
F G
FG
D001734:Bites, Human / Q000517:prevention & control; D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000235:genetics / Q000523:psychology; D008297:Male; D016728:Self-Injurious Behavior / Q000517:prevention & control*; D014081:Tooth Extraction
D007041:Hypoxanthine Phosphoribosyltransferase