Journal of the Korean Association of Oral and Maxillofacial Surgeons
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- P-ISSN2234-7550
- E-ISSN2234-5930
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ISSN : 2234-7550
Lesch–Nyhan syndrome: a case report
Kim Gu-Hwan (Department of Medical Genetic Center, Asan Medical Center, Seoul, Korea)
Ahn Kang-Min (Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Korea)
Abstract
Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retardation, self-mutilation, choreoathetosis, and spasticity. The most distinctive symptom is compulsive self-mutilation. For patients with LNS, different methods have been tried to reduce self-biting behaviors including restraints, behavioral treatment, medications, deep brain stimulation, tooth extraction and botulinum toxin A injection. In this report, we present a case of LNS undergoing cheiloplasty due to self-mutilation and tooth extraction of the left deciduous maxillary canine.
- keywords
- Lesch-Nyhan syndrome, HPRT1 gene, Self-mutilation, Lip biting, Tooth extraction
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