Lesch–Nyhan syndrome: a case report
10.5125/jkaoms.2023.49.4.228
- Author:
Han Ick PARK
1
;
Gu-Hwan KIM
;
Kang-Min AHN
Author Information
1. Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Seoul, Korea
- Publication Type:CASE REPORT
- From:Journal of the Korean Association of Oral and Maxillofacial Surgeons
2023;49(4):228-232
- CountryRepublic of Korea
- Language:English
-
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.
