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KMID : 0355620230490040228
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Journal of Korean Association of Oral and Maxillofacial Surgeons
2023 Volume.49 No. 4 p.228 ~ p.232
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Lesch?Nyhan syndrome: a case report
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Park Han-Ick
Kim Gu-Hwan
Ahn Kang-Min
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Abstract
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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.
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KEYWORD
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Lesch-Nyhan syndrome, HPRT1 gene, Self-mutilation, Lip biting, Tooth extraction
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