Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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LESCH-NYHAN SYNDROME: A CASE REPORT

Lesch-Nyhan syndrome: 증례보고

  • Kim, Myoung-Gook (Department of Pediatric Dentistry, School of Dentistry, Chonnam National University) ;
  • Yang, Kyu-Ho (Department of Pediatric Dentistry, School of Dentistry, Chonnam National University) ;
  • Choi, Nam-Ki (Department of Pediatric Dentistry, School of Dentistry, Chonnam National University) ;
  • Kim, Seon-Mi (Department of Pediatric Dentistry, School of Dentistry, Chonnam National University)
  • 김명국 (전남대학교 치과대학 소아치과학교실) ;
  • 양규호 (전남대학교 치과대학 소아치과학교실) ;
  • 최남기 (전남대학교 치과대학 소아치과학교실) ;
  • 김선미 (전남대학교 치과대학 소아치과학교실)
  • Received : 2011.04.26
  • Accepted : 2011.07.20
  • Published : 2011.08.31
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Abstract

Lesch-Nyhan syndrome is a disease caused by metabolic disorder of purine. General muscle stiffness and hyposomia are shown from infancy and symptoms can include involuntary or irregular movements of arms and legs, mental retardation, and compulsive self-mutilating behaviors. Self-mutilating behaviors begin at approximately the first year or sometimes at late teens. The patients bite their lips, especially lower lip, tongue, buccal mucosa, hands and fingers. Tongue and lips can be injured or mutilated in severe cases. As the patient gets older, self-mutilating behaviors become more serious and extensive and secondary infection of injured areas is possible. Periodic soft tissue damage due to self-mutilating may evolve to cancer. Medical treatment, appliance treatment, extraction of tooth and surgical operation was attempted to control self-mutilaing behaviors. We hereby report the case of child Lesch-Nyhan syndrome patient who has self-inflicted labial damage as chief complaint. When patient was treated with conservate therapy, such as removable or fixed appliance, the frequency of labial damage could be subdued and yielded favorable results.

Lesch-Nyhan syndrome은 purine 대사장애로 인해 나타나는 질환이다. 유아기부터 전신근육의 강직, 발육 저하가 나타나고 손발의 불수의적 운동이나 불규칙적인 운동이 보이며 정신지체, 강박적 자해행위가 나타난다. 자해행위는 대개 1세 전후에 나타나지만 간혹 10대 후반에 나타나기도 한다. 입술, 특히 아랫입술과 혀, 협점막, 손, 손가락 등을 깨물고 입술, 혀, 협점막 등이 손상되거나 심할 경우 절단되기도 한다. 나이가 들면서 자해 행위가 점점 심해지고 상처 부위를 통한 2차 감염 가능성이 있다. 자해행위로 인한 주기적인 연조직 손상은 심할 경우 구강암으로 이행되기도 한다. 이와 같은 자해행위를 억제하기 위해 약물치료, 장치치료, 발치, 외과적 수술 등 여러 가지 방법이 시도되고 있다. 본 증례는 자해행위로 인한 입술손상을 주소로 내원한 Lesch-Nyhan syndrome 환자들을 대상으로 발치 대신 보존적 치료를 위해 가철성, 고정성 장치를 사용한 결과 입술외상의 빈도를 줄이고 심미적으로 양호한 결과를 얻을 수 있었기에 보고하는 바이다.

Keywords

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