Lesch-Nyhan综合征1例报告。

IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Journal of the Korean Association of Oral and Maxillofacial Surgeons Pub Date : 2023-08-31 DOI:10.5125/jkaoms.2023.49.4.228

Han Ick Park, Gu-Hwan Kim, Kang-Min Ahn

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引用次数: 0

摘要

Lesch-Nyhan综合征(LNS)是一种罕见的x连锁隐性疾病，由次黄嘌呤磷酸核糖基转移酶1 (HPRT1)基因突变引起。该综合征的特点是尿酸过量产生、智力迟钝、自残、舞蹈症和痉挛。最明显的症状是强迫性自残。对于LNS患者，已经尝试了不同的方法来减少自咬行为，包括约束、行为治疗、药物治疗、深部脑刺激、拔牙和注射A型肉毒杆菌毒素。在这个报告中，我们提出一例因自残和左乳牙拔牙而进行唇部整形的LNS病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Lesch-Nyhan syndrome: a case report.

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Lesch-Nyhan syndrome: a case report.

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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来源期刊

Journal of the Korean Association of Oral and Maxillofacial Surgeons DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

2.00

自引率

10.00%

发文量

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.