대한소아치과학회지 (Journal of the korean academy of Pediatric Dentistry)

  • 제35권3호
  • /
  • Pages.532-538
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  • 2008
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  • 1226-8496(pISSN)
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  • 2288-3819(eISSN)
대한소아치과학회 (Korean Academy of Pediatric Dentistry)
권호 표지

Lesch-Nyhan 증후군 환아의 자해에 의한 혀의 외상

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

  • 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)
  • 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)
  • 발행 : 2008.08.29
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초록

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.

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.

키워드

참고문헌

  1. Seegmiller JE, Rosenloom FM, Kelly WN : Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science, 155:1682-1684, 1967. https://doi.org/10.1126/science.155.3770.1682
  2. Bailys ME, Krakoff IH, Berman PH : Urinary metabolites in congenital hyperuricosuria. Science, 156:1122-1123, 1967. https://doi.org/10.1126/science.156.3778.1122
  3. Nyhan WL, Wong DF : New approaches to understanding Lesch-Nyhan disease. N Engl J Med, 334:1602-1604, 1996. https://doi.org/10.1056/NEJM199606133342411
  4. Schepis C, Greco D, Siragusa M, et al. : What syndrome is this? Lesch-Nyhan syndrome. Pediatric Dermatology, 13:169-70, 1996.
  5. Jolly DJ, Okayama H, Berg P, et al. : Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. Proc Natl Acad Sci USA, 80:477, 1983. https://doi.org/10.1073/pnas.80.2.477
  6. Edwards A, Voss H, Rice P, et al. : Automated DNA sequencing of the human HPRT locus. Genomics, 6:593, 1990. https://doi.org/10.1016/0888-7543(90)90493-E
  7. Lesch M, Nyhan WL : A familial disorder of uric acid metabolism and central nervous system function. Am J Med, 36:561-570, 1964. https://doi.org/10.1016/0002-9343(64)90104-4
  8. Bundick J : Lesch-Nyhan syndrome. Journal of Dentistry for Children, 36:277-280, 1969.
  9. Steadman RH, McIntosh G, Gross BD : Lesch-Nyhan syndrome. J Oral Maxillofac Surg, 40:750-2, 1982. https://doi.org/10.1016/0278-2391(82)90153-7
  10. Scully C : The orofacial manifestation of the Lesch-Nyhan syndrome. Int J Oral Surg, 10:380-3, 1981. https://doi.org/10.1016/S0300-9785(81)80040-3
  11. 홍창의 : 소아과학. 대한교과서(7판), 서울, 212-213, 2001.
  12. Lloyd KG, Hornykiewicz O, Davidson L, et al. : Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med, 305:1106-11, 1981. https://doi.org/10.1056/NEJM198111053051902
  13. Breese GR, McCown TJ, Baumeister AA, et al. : LDOPA induced self-biting in rats treated with 6-hydroxydopamine( 6-OHDA) as neonate : Models of self-mutilation observed in Lesch-Nyhan syndrome. Fed Proc, 43:928, 1984.
  14. King BH, Cromwell HC, Hoa TL, et al. : Dopaminergic and Glutamaterigic interaction in the expression of self-injurious behavior. Dev Neurosci, 20:180-187, 1998. https://doi.org/10.1159/000017312
  15. Lewis MH, Gluck JP, Beauchamp AJ, et al. : Longterm effects of early social isolation in rhesus monkeys(Macaca mulatta) : in vivo evidence for alterations in dopamine receptor sensitivity. Brain Res, 513:67-73, 1990. https://doi.org/10.1016/0006-8993(90)91089-Y
  16. Luthman J, Bolioli B, Tsutsumi T, et al. : Sprouting of striatal serotonin nerve terminals following selective lesions of nigro striatal dopamine neurons in neonatal rats. Brain Res Bull, 19:269-274, 1987. https://doi.org/10.1016/0361-9230(87)90092-X
  17. Towle AC, Criswell HE, Maynard EH, et al. : Serotonergic innervation of the rat caudate following a neonatal 6-hydroxydopamine lesion : An anatomical, biochemical and pharmacological study. Pharmacol Biochem Behav, 34:367-374, 1989. https://doi.org/10.1016/0091-3057(89)90328-6
  18. Rashid N, Yusuf H : Oral self-mutilation by a 17-month-old child with Lesch-Nyhan syndrome. Int J Paediatr Dent, 7:115-7, 1997.
  19. Gilbert S, Spellacy E, Watts RW : Problems in the behavioral treatment of self-injury in the Lesch-Nyhan syndrome. Dev Med Child Neurol, 21:795-800, 1979.
  20. Saemundsson SR, Roberts MW : Oral self-injurious behavior in the developmentally disabled: review and a case. ASDC J Dent Child, 64:205-228, 1997.
  21. Eguchi S, Tokioka T, Motoyoshi A, et al. : A selfcontrollable mask with helmet to prevent self fingermutilation in Lesch-Nyhan syndrome. Arch Phys Med Rehabil, 75:709-10, 1994. https://doi.org/10.1016/0003-9993(94)90200-3
  22. Konicki PE, Schultz SC : Rationale for clinical trials of opiate antagonists in treating patients with personality disorders and self-injurious behavior. Psychopharmacol Bull, 25:556-563, 1989.
  23. Pies RW, Popli AP : Self-injurious behavior: pathophysiology and implications for treatment. J Clin Psychiatry, 56:580-8, 1995.
  24. 이지현, 김지훈, 김재문 등 : Lesch-Nyhan 증후군 환아의 자해 예방. 대한소아치과학회지, 32:306-311, 2005.
  25. Schroeder SR, Rojahn J, Reese RM : Brief report:reliability and validity of instruments for assessing psychotropic medication effects on self-injurious behavior in mental retardation. J Autism Dev Disord, 27:89-102, 1997. https://doi.org/10.1023/A:1025825322955
  26. Chen LR, Liu JF : Successful treatment of self-inflicted oral mutilation using an acrylic splint retained by a head gear. Pediatr Dent, 18:408-10, 1996.
  27. Sugahara T, Mishima K, Mori Y : Lesch-Nyhan syndrome: successful prevention of lower lip ulceration caused by self-mutilation by use of mouth guard. Int J Oral Maxillofac Surg, 23:37-8, 1994. https://doi.org/10.1016/S0901-5027(05)80324-8
  28. Evans J, Sirikumara M, Gregory M : Lesch-Nyhan syndrome and the lower lip guard. Oral Surg Oral Med Oral Pathol, 76:437-40, 1993. https://doi.org/10.1016/0030-4220(93)90009-S
  29. Davila JM, Aslani MB, Wentworth E : Oral appliance attached to a bubble helmet for prevention of self-inflicted injury. ASDC J Dent Child, 63:131-4, 1996.
  30. 이상익, 김영재, 이상훈 등 : 자해로 인한 구강내 손상의 치과적 조절 : 증례보고, 대한소아치과학회지, 32:244-250, 2005.
  31. Macpherson DW, Wolford LK, Kortebein MJ : Orthognathic surgery for the treatment of chronic self-mutilation of the lips. Int J Oral Maxillofac Surg, 21:133-136, 1992. https://doi.org/10.1016/S0901-5027(05)80778-7
  32. Lee JH, Berkowitz RJ, Choi BJ : Oral-self-mutilation in the Lesch-Nyhan syndrome. ASDC J Dent Child, 69:66-9, 2002.
  33. Smith BM, Cutilli BJ, Fedele M : Lesch-Nyhan syndrome: a case report. Oral Surg Oral Med Oral Pathol, 78:317-8, 1994. https://doi.org/10.1016/0030-4220(94)90061-2
  34. Anderson LT, Ernst M : Self-injury in Lesch-Nyhan Disease. J Autism Dev Disord, 24:67-81, 1994. https://doi.org/10.1007/BF02172213