Lesch–Nyhan syndrome: a case report

• 영문명: Lesch–Nyhan syndrome: a case report
• 발행기관: 대한구강악안면외과학회
• 저자명: Han Ick Park Gu-Hwan Kim Kang-Min Ahn
• 간행물 정보: 『대한구강악안면외과학회지』제49권 제4호, 228~232쪽, 전체 5쪽
• 주제분류: 의약학 > 내과학
• 파일형태: PDF
• 발행일자: 2023.08.31

영문 초록

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.

목차

I. Introduction

II. Case Report

III. Discussion

ORCID

Authors’ Contributions

Funding

Consent for Publishing Photographs

Conflict of Interest

References

키워드

Lesch-Nyhan syndrome HPRT1 gene Self-mutilation Lip biting Tooth extraction