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Journals / Gülhane Tıp Dergisi / 2014 / Cilt: 56 - Sayı: 4

Lesch-Nyhan Syndrome and self-injuries behaviour oral tissue: a case report

Lesch-Nyhan sendromu ve kendi̇ oral dokularına zarar verme davranışı: Bi̇r olgu sunumu

Ceren YILDIRIM
ÖZLEM MARTI AKGÜN
SERKAN GÖRGÜLÜ
Feridun BAŞAK
Pages
251–254
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The patient was request to attend the clinic for follow-up every months

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Lesch–Nyhan Syndrome (LNS) is a rare X-linked genetic disorder involving lack of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT).
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Key Findings & Data:The deficiency of HGPRT activity leads to excessive uric acid acumulation resulting in neurological, renal and musculoskeletal manifestations.
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Conclusion & Impact:The patient was request to attend the clinic for follow-up every months
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Lesch–Nyhan Syndrome (LNS) is a rare X-linked genetic disorder involving lack of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT). The deficiency of HGPRT activity leads to excessive uric acid acumulation resulting in neurological, renal and musculoskeletal manifestations. It is characterized by selfinjurious behaviour which results in destruction of oral and perioral tissues. Several treatment approaches have been administered to manage the severe oral and perioral self- injury behaviour such as drug trials, extraction of teeth, orthognathic surgery and intra-oral appliance. A seven-years-old boy with LNS Syndrome was referred to the Peadiatric Dentistry Clinic at GATA. His parents requested interception of self mutilation of severe buccal mucosa injuries by the child’s own teeth. An acrylic mandibular appliance was designed and producted an occlusal plate raising the bite plane. After two weeks healing of oral lesions is observed. The patient was request to attend the clinic for follow-up every months

Özet

Lesh-Nyhan Sendromu (LNS), nadir olarak gözlenen hipoksantin guanin fosforibozil transferaz enziminin eksikliğini içeren X'e bağlı genetik bir hastalıktır. HGPRT aktivitesindeki yetersizlik ürik asit birikimine yol açmakta; nörolojik, renal ve iskeletsel-kassal problemler gözlenmektedir. Bu sendrom, oral ve perioral dokularda yıkıma neden olan kendine zarar verme davranışı ile karakterizedir. Oral ve perioral dokularda yaralanmaya neden olan kendine zarar verme davranışını engellemek için ilaç kullanımı, diş çekimi, ortognatik cerrahi ve intraoral aparey kullanımı gibi çeşitli tedavi yaklaşımları uygulanmaktadır. LNS sendromlu 7 yaşındaki erkek hasta, GATA Çocuk Diş Hekimliği Kliniği'ne başvurmuştur. Ailesi çocuğun kendi dişleri ile meydana getirdiği bukkal mukaza yaralanmasının engellenmesini talep etmiştir. Akrilikten mandibular bir aparey yapılmış ve oklüzal plak ile ısırma düzlemi yükseltilmiştir. 2 hafta sonra oral lezyonların iyileştiği gözlenmiştir. Hasta aylık kontroller ile takip edilmektedir

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Cite This Article

YILDIRIM, C., AKGÜN, Ö. M., GÖRGÜLÜ, S., BAŞAK, F. (2014). Lesch-Nyhan Syndrome and self-injuries behaviour oral tissue: a case report. Gülhane Tıp Dergisi, Cilt: 56 - Sayı: 4, 251–254. https://ajindex.com/articles/210909

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