Lesch-Nyhan syndrome: a case report.
J Korean Assoc Oral Maxillofac Surg
; 49(4): 228-232, 2023 Aug 31.
Article
in En
| MEDLINE
| ID: mdl-37641907
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
J Korean Assoc Oral Maxillofac Surg
Year:
2023
Document type:
Article