Lesch?Nyhan syndrome: a case report
박한익, 김구환, 안강민,
소속 상세정보
박한익 ( Park Han-Ick ) -
김구환 ( Kim Gu-Hwan ) -
안강민 ( Ahn Kang-Min ) -
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.
키워드
Lesch-Nyhan syndrome; HPRT1 gene; Self-mutilation; Lip biting; Tooth extraction
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