Journal of the Korean Association of Oral and Maxillofacial Surgeons

The Korean Association of Oral and Maxillofacial Surgeons (대한구강악안면외과학회)
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Lesch-Nyhan syndrome: a case report

  • Han Ick Park (Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan) ;
  • Gu-Hwan Kim (Department of Medical Genetic Center, Asan Medical Center) ;
  • Kang-Min Ahn (Department of Oral and Maxillofacial Surgery, Asan Medical Center, College of Medicine, University of Ulsan)
  • Received : 2022.07.27
  • Accepted : 2022.09.16
  • Published : 2023.08.31
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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.

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References

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