| Autor: |
Park HI; Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Korea., Kim GH; Department of Medical Genetic Center, Asan Medical Center, Seoul, Korea., Ahn KM; Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan, Korea. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the Korean Association of Oral and Maxillofacial Surgeons [J Korean Assoc Oral Maxillofac Surg] 2023 Aug 31; Vol. 49 (4), pp. 228-232. |
| DOI: |
10.5125/jkaoms.2023.49.4.228 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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