Lesch-Nyhan syndrome: a case report.

J Korean Assoc Oral Maxillofac Surg

Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Korea.

Published: August 2023

Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the (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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466019PMC
http://dx.doi.org/10.5125/jkaoms.2023.49.4.228DOI Listing

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