The Journal of Korea Assosiation for Disability and Oral Health (대한장애인치과학회지)

Korean Association for Disability and Oral Health (대한장애인치과학회)
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A PRESERVATIVE APPROACH TO PREVENTION OF SELF-MUTILATION IN PATIENT WITH LESCH-NYHAN SYNDROME ; A CASE REPORT

Lesch-Nyhan 증후군 환아의 자해 예방을 위한 보존적 접근 : 증례보고

  • Kang, Dong-Gyun (Department of Pediatric Dentistry, School of Dentstry, Kyungpook National University) ;
  • Kim, Tae-Wan (Department of Pediatric Dentistry, School of Dentstry, Kyungpook National University) ;
  • Kim, Young-Jin (Department of Pediatric Dentistry, School of Dentstry, Kyungpook National University)
  • 강동균 (경북대학교 치과대학 소아치과학교실) ;
  • 김태완 (경북대학교 치과대학 소아치과학교실) ;
  • 김영진 (경북대학교 치과대학 소아치과학교실)
  • Published : 2006.11.30
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Abstract

Lesch-Nyhan syndrome is rare X-linked genetic disorder involving absence of the enzyme hypoxanthine guanine phosphoribosyl transferase (HGPRT) related to purine metabolism. The deficiency of HGPRT activity leads to an excesscive uric acid production and consequent hyperuricemia. It occurs almost exclusively in males, and the incidence is estimate to be 1/100,000~380,000. Clinical presentation is characterized by developmental delay, mental retardation, choreoathetosis, spastic cerebral palsy, nephrolithiasis, obstructive nephropathy and acute gouty arthritis. A characteristic feature of Lesch-Nyhan syndrome is the appearance of intractable self-mutilation behavior. Self-mutilation behavior is complicated by secondary infection and tissue loss as well as pain. The dental management of self-mutilation includes presertive methods of using appliances such as lip bumper or soft mouthguard and radical methods such as extraction of all teeth or orthognathic surgery. A case of Lesch-Nyhan syndrome patient with self-mutilation and severe lower lip injury is presented. He was treated successfully with soft mouthguard.

자해 행동으로 인하여 하순이 심하게 손상된 Lesch-Nyhan 증후군 환아를 대상으로 소아 정신과와의 협진을 통한 약물 요법과 soft mouthguard를 이용한 보존적 치료로 단기간에 만족할 만한 결과를 보였다. 결론적으로 Lesch-Nyhan 증후군 환아의 자해를 예방하는 표준화된 방법이 있는 것은 아니지만 발치나 교정적 수술 등의 침습적인 방법 이전에 약물치료와 장치물 치료 등의 보존적 치료를 통한 접근이 먼저 있어야 한다. 그리고, 보존적 치료의 성공을 위해서는 정신과 전문의와의 협진이 요구되며 환자에 대한 보호자의 적극적인 관심과 구강 위생 관리가 반드시 필요하다.

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