Abstract
Lesch–Nyhan syndrome (LNS) is a rare genetic condition resulting from an inherited disorder of purine metabolism. It is characterized by the lack of one enzyme, hypoxanthine-guanine phos-phoribosyltransferase (HGPRT), which is responsible for purine salvage. The main manifestations of this syndrome are hyperuricaemia, reduction in cognitive abilities, self-aggressive behavior, choreoathetosis, spasticity, and retarded development. The aim of the study was to investigate the means of treatment and efficacy of prevention of oral self-injury behavior (SIB) in patients with LNS. Information regarding the type and treatment of oral SIB in 19 LSN Italian patients (mean age 23.3 years) was gathered via a structured telephone interview of their parents. A total of 84% of the patients showed some form of self-injury behavior; the first form to manifest itself was finger biting (37%), followed by lip biting (25%), and then tongue biting (18%). Furthermore, 74% of cases featured oral SIB, and tooth extraction was found to be the most frequent form of treatment practiced (71%). This study has revealed the great difficulty parents and carers face in managing forms of oral SIB; dental extraction was the most common choice, despite its invasive nature and far-reaching consequences in regard to the psychosocial status of the patients.
Reference30 articles.
1. A familial disorder of uric acid metabolism and central nervous system function
2. Lesch–Nyhan Syndrome: Report of three cases in one family;Shoptaw;ASDC J. Dent. Child.,1978
3. ‘Lesch–Nyhan Syndrome’, Pediatric Database (PED-BASE) 23/12/1994
http:www.icondata.com/health/pedbase/files/LESCH-NY.HTM
4. Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
5. Prevention of self-mutilation in patients with Lesch–Nyhan syndrome: Review of literature;Cusumano;J. Dent. Child.,2001
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