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

Korean Association for Disability and Oral Health (대한장애인치과학회)
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MANAGEMENT OF LESCH-NYHAN SYNDROME PATIENTS WITH SELF-MUTILATION BEHAVIOR USING THEIR TEETH : CASE REPORTS

레쉬니한 증후군(Lesch-Nyhan syndrome) 환자의 치아와 연관된 자해행동의 관리: 증례보고

  • Lee, Ji-Mi (Department of Pediatric Dentistry, School of Dentistry, Chosun University) ;
  • Lee, Sang-Ho (Department of Pediatric Dentistry, School of Dentistry, Chosun University) ;
  • Lee, Nan-Young (Department of Pediatric Dentistry, School of Dentistry, Chosun University) ;
  • Jih, Myeong-Kwan (Department of Pediatric Dentistry, School of Dentistry, Chosun University)
  • 이지미 (조선대학교 치의학전문대학원 소아치과학교실) ;
  • 이상호 (조선대학교 치의학전문대학원 소아치과학교실) ;
  • 이난영 (조선대학교 치의학전문대학원 소아치과학교실) ;
  • 지명관 (조선대학교 치의학전문대학원 소아치과학교실)
  • Received : 2018.08.06
  • Accepted : 2018.09.28
  • Published : 2018.12.31
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Abstract

Lesch-Nyhan syndrome is a rare X-linked recessive genetic disorder. During purine metabolism, the hypoxanthine guanine phosphribosyl transferase (HGPRT) enzyme is deficient causing phosphoribosyl transferase to accumulate and resulting in excessive uric acid. Clinical symptoms include hypercalcemia, choreoathetosis, spasticity, mental retardation, and self-injury to lips, tongue or fingers. This results not only in pain caused by the self-injury but also secondary infection of the wound site and the esthetic damage of the soft tissue defect. Dental treatments include conservative methods using intraoral appliances such as soft mouthguards, fixed lip bumpers, and occlusal guards, and invasive methods such as extraction of all teeth or forming an artificial anterior open bite. We report two cases of Lesch-Nyhan syndrome patients with self-mutilation behavior; one was treated with a preservative method using a soft mouthguard, and the other was treated with extraction of all teeth.

저자는 입술 및 혀에 대해 자해증상을 보이는 2명의 Lesch-Nyhan 증후군 환아에서 구강조직에 대한 자해행동을 예방하기 위해 soft mouth guard를 이용한 보존적 치료법과 전악발거의 침습적 방법을 이용하여 치료한 증례를 보고하는 바이다. Lesch-Nyhan 증후군 환자의 자해행동을 예방하기 위한 치료법은 아직 정립된 기준이 존재하지 않아 각 환자의 자해양상 및 정도에 따라 치료방법은 달라질 수 있다. 가능하다면 치아를 보존할 수 있는 장치 또는 BTX-A 제재 등을 이용한 보존적 방법을 먼저 시도해 보는 것이 좋다. 이 때 치료의 성공률을 높이기 위해서는 치과적 접근 이외에도 소아정신과와의 협진을 통한 정신심리학적 접근, 필요시 약물치료를 고려하는 것 등 여러 방향으로 접근하는 것이 더욱 바람직한 결과를 가져올 것으로 사료된다. 보존적 접근이 실패할 경우 더 이상의 조직상실과 전신적 감염 예방을 위해 극단적 방법이지만 전악발거를 고려해야 할 것이다.

Keywords

KDOHJY_2018_v14n2_97_f0001.png 이미지

Fig. 1. Ulceration on lower lip by biting (arrow).

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Fig. 3. After 3 weeks, the wound healing was observed (arrow).

KDOHJY_2018_v14n2_97_f0003.png 이미지

Fig. 2. Soft mouthguard application for preventing self mutilation behavior by biting.

KDOHJY_2018_v14n2_97_f0004.png 이미지

Fig. 6. Bite wound of Rt. tongue by self mutilation behavior (arrow).

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Fig. 7. Extraction of Rt. lower 2nd primary molar for prevention of tongue biting.

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Fig. 4. Loss of lower lip tissue (arrow).

KDOHJY_2018_v14n2_97_f0007.png 이미지

Fig. 5. After 3 months, additional wound by lip biting was observed (arrow).

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