Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
권호 표지

TONGUE INJURIES BY SELF MUTILATION IN LESCH-NYHAN SYNDROME PATIENT: A CASE REPORT

Lesch-Nyhan 증후군 환아의 자해에 의한 혀의 외상

  • Kim, Ji-Hee (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University) ;
  • Choi, Byung-Jai (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University) ;
  • Kim, Seong-Oh (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University) ;
  • Choi, Hyung-Jun (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University) ;
  • Son, Heung-Kyu (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University) ;
  • Lee, Jae-Ho (Department of Pediatric Dentistry, College of Dentistry and Oral Science Research Center, Yonsei University)
  • 김지희 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소) ;
  • 최병재 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소) ;
  • 김성오 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소) ;
  • 최형준 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소) ;
  • 손흥규 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소) ;
  • 이제호 (연세대학교 치과대학 소아치과학교실 및 구강과학연구소)
  • Published : 2008.08.29
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Abstract

Lesch-Nyhan syndrome is a rare X-linked recessively inherited disorder, caused by complete absence or decrease in activity of hypoxanthine guanine phosphoribosyl transferase(HPRT), an enzyme involved in purine metabolism. This enzyme deficiency gives rise to nephropathy symptoms, such as hyperuricosuria and hyperuricemia by excessive uric acid production and neuropathy symptoms, such as mental retardation, choreoathetosis and self mutilation behavior. Patients with Lesch-Nyhan syndrome have tendency to bite their lip, tongue and finger. In severe cases, partial or even total amputation of tongue or finger occur. Self-inflicted bites are often complicated by secondary infection to the injured site as well as pain. Furthermore tissue loss by biting results in esthetic problems. The dental management of self mutilation includes treatment with appliances such as soft mouth guard or lip bumper, extraction of all the teeth, and orthognathic surgery. We report a case of a 13 year-old boy with Lesch-Nyhan syndrome, who severely injured himself on his tongue. At first, conservative treatment using soft mouth guard was considered, but it could not prevent trauma on his tongue. Therefore, extraction of the lower anterior and posterior teeth was carried out.

Lesch-Nyhan 증후군은 드물게 나타나는 X 염색체 열성 유전 질환으로 purine의 대사 장애를 보이는 질환이다. Purine의 대사 장애는 대사에 관여하는 효소인 hypoxanthine guanine phosphoribosyl transferase의 결손 또는 활성 감소로 인하여 나타나며, 요산의 과다 생산에 의한 요산과다혈증, 요산과다뇨증 등의 신장계 증상과 정신지체, 무도증 등의 신경학적 장애를 보이고, 구강이나 손가락에 대한 자해를 나타낸다. 이 중 자해 행위는 입술과 혀, 손가락을 깨무는 경우가 흔하고, 심하면 혀와 손가락이 완전히 절단될 수도 있다. 이 경우 자해로 인한 통증뿐 아니라, 연조직 결손으로 인한 심미적인 문제와 상처 부위로의 2차 감염이 발생할 수 있다. 이러한 Lesch-Nyhan 증후군 환자에서 자해를 막기 위해 여러 방법이 사용되고 있는데, 이 중 치과적으로 접근하는 방법으로는 마우스 가드나 lip bumper 등의 장치를 이용하는 방법과 해당 치아들을 모두 발거하는 방법, 악교정 수술을 통해 개방 교합을 형성해 주는 방법 등이 있다. 본 증례는 13세 9개월의 Lesch-Nyhan 증후군 환아로서 자해에 의해 혀에 심각한 외상을 가한 경우로 마우스 가드를 이용한 보존적인 방법을 사용하였으나 계속적으로 혀에 외상을 가해 하악 전치 뿐 아니라 구치까지 발거하여 치료하였다.

Keywords

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