{"title":"Lesch-Nyhan syndrome: a case report.","authors":"Han Ick Park, Gu-Hwan Kim, Kang-Min Ahn","doi":"10.5125/jkaoms.2023.49.4.228","DOIUrl":null,"url":null,"abstract":"<p><p>Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the <i>hypoxanthine phosphoribosyltransferase 1</i> (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.</p>","PeriodicalId":51711,"journal":{"name":"Journal of the Korean Association of Oral and Maxillofacial Surgeons","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8e/57/jkaoms-49-4-228.PMC10466019.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the Korean Association of Oral and Maxillofacial Surgeons","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5125/jkaoms.2023.49.4.228","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
Journal of the Korean Association of Oral and Maxillofacial Surgeons (J Korean Assoc Oral Maxillofac Surg) is the official journal of the Korean Association of Oral and Maxillofacial Surgeons. This bimonthly journal offers high-quality original articles, case series study, case reports, collective or current reviews, technical notes, brief communications or correspondences, and others related to regenerative medicine, dentoalveolar surgery, dental implant surgery, head and neck cancer, aesthetic facial surgery/orthognathic surgery, facial injuries, temporomandibular joint disorders, orofacial disease, and oral pathology. J Korean Assoc Oral Maxillofac Surg is of interest to oral and maxillofacial surgeons and dental practitioners as well as others who are interested in these fields.
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