Lesch-Nyhan Syndrome-Dental Approach in a Case of Self-mutilation
نویسندگان
چکیده
منابع مشابه
A preventive approach to oral self-mutilation in Lesch-Nyhan syndrome: a case report.
Lesch-Nyhan syndrome is a rare X-linked recessive disorder of purine metabolism, caused by complete absence of the enzyme hypoxanthine-guanine phosphoribosyl transferase. Persons affected with this incurable disease are developmentally and physically delayed, and suffer from self-injurious behavior. The most typical feature results in partial or total destruction of perioral tissues. The purpos...
متن کامل[A case of Lesch-Nyhan syndrome].
Lesch-Nyhan 증후군은 성염색체 열성 유전질환으로, 퓨린 (purine) 대사 과정중 구제 및 재순환에 관여하는 효소인 hypoxanthine-guanine phosphoribosyl transferase(HPRT)의 완 전 결핍으로 인한 고요산혈증, 무도성 무정위운동(choreoathetosis), 연축성(spasticity), 정신지체, 강박적인 자해 행위 등의 임 상 증상들을 특징으로 하는 대사 이상 질환이다 1) . 1964년 Lesch와 Nyhan 1) 에 의해 특징적인 상기 증상을 보인 형제의 증례가 처음 보고되었고, 1967년 Seegmiller 등 2) 에 의하 여 이 병의 원인이 효소 HPRT의 완전 결핍으로 인한 것임이 밝혀졌다. 이후 분자유전학 기술의 발달로 HPRT 유전자가...
متن کاملBotulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder resulting from a deficiency of the metabolic enzyme hypozanthine-guanine phosphoribosyltransferase (HPRT). This syndrome presents with abnormal metabolic and neurological manifestations including hyperuricemia, mental retardation*, spastic cerebral palsy (CP), dystonia, and self-mutilation. The mechanism behind the severe self-mutilat...
متن کاملLesch-Nyhan Syndrome
Alternative names: Historically, Lesch-Nyhan syndrome is the designated term for this disease. Lesch-Nyhan Disease (LND) and hypoxanthine-guanine phosphoribosyl transferase (HPRT, HGprt) deficiency are also used to describe this disease. In addition to the classic form of LND, Jinnah and others have characterized two variant forms of the disorder -these individuals have higher levels of enzyme ...
متن کاملCase report: the Lesch-Nyhan syndrome.
BACKGROUND The Lesch-Nyhan syndrome (LNS) is a rare x-linked excessive disorder of purine metabolism, caused by the congenital absence of hypoxanthine guanine phosphoribosyl transferase (HGPRT). CASE REPORT In January 2000 a 2 year old boy was referred to a paediatric dental office in Landshut, Germany, because of severe and repeated lip chewing and aggressive tongue biting. A medical history...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Japanese Society for Oral Mucous Membrane
سال: 1996
ISSN: 1341-7983,1884-1473
DOI: 10.6014/jjomm1995.2.105