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

  • 제13권2호
  • /
  • Pages.80-85
  • /
  • 2017
  • /
  • 1738-8813(pISSN)
  • /
  • 2287-7142(eISSN)
대한장애인치과학회 (Korean Association for Disability and Oral Health)
권호 표지
DOI QR코드

DOI QR Code

엔젤만 증후군(Angelman syndrome) 환자의 치아 우식 치료 : 증례 보고

DENTAL CARIES TREATMENT FOR A PATIENT WITH ANGELMAN SYNDROME : A CASE REPORT

  • 상은정 (서울대학교 치의학대학원 소아치과학교실) ;
  • 송지수 (서울대학교 치의학대학원 소아치과학교실) ;
  • 신터전 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김영재 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김정욱 (서울대학교 치의학대학원 소아치과학교실) ;
  • 장기택 (서울대학교 치의학대학원 소아치과학교실) ;
  • 이상훈 (서울대학교 치의학대학원 소아치과학교실) ;
  • 현홍근 (서울대학교 치의학대학원 소아치과학교실)
  • Sang, Eun Jung (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Song, Ji-Soo (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Shin, Teo Jeon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Young-Jae (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Jung-Wook (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Jang, Ki-Taeg (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Lee, Sang-Hoon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Hyun, Hong-Keun (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
  • 투고 : 2017.06.03
  • 심사 : 2017.08.09
  • 발행 : 2017.12.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

저자는 불량한 구강 위생과 다수 치아에 광범위한 치아 우식증을 보이나 치과 검진과 치료에 협조가 되지 않는 엔젤만 증후군 환자를 전신마취 하에 안전하고 효과적으로 치료한 증례를 보고하는 바이다. 환아는 간질 조절을 위해 항경련제(Clobazam)를 복약 중이었고 운동 장애, 발육 지연, 언어 장애, 불수의적 폐구 운동을 보였다. GABA 수용체 이상이 동반되는 AS의 특성 상 진정 약물의 효과가 떨어질 수 있으며, 발작 가능성이 있기 때문에 전신마취를 행동조절 요법으로 선택하였고, 모든 생징후를 안전하게 감시하며 성공적으로 치과 치과치료를 시행하였다. 전신마취 이후에는 정기검진, 비약물적 행동조절 요법을 통해 간단한 수복 치료를 추가로 시행할 수 있었고, 환자의 구강 건강 증진에 기여할 수 있었다.

Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

키워드

참고문헌

  1. Hart H : 'Puppet'children. A report of three cases (1965). Dev Med Child Neurol, 50:564, 2008. https://doi.org/10.1111/j.1469-8749.2008.03035.x
  2. Clayton-Smith J, Laan L : Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet, 40:87-95, 2003. https://doi.org/10.1136/jmg.40.2.87
  3. Steffenburg S, Gilberg CL, Steffenburg U, Kyllerman M : Autism in Angelman syndrome: a population-based study. Pediatr Neurol, 14:131-136, 1996. https://doi.org/10.1016/0887-8994(96)00011-2
  4. Buckley RH, Dinno N, Weber P : Angelman syndrome: are the estimates too low?. Am J Med Genet, 80:385-390, 1998. https://doi.org/10.1002/(SICI)1096-8628(19981204)80:4<385::AID-AJMG15>3.0.CO;2-9
  5. Wlliams CA, Beaudet AL, Wagstaff J, et al. : Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A, 140: 413-418, 2006.
  6. Margolis SS, Sell GL, Zbinden MA, Bird LM : Angelman syndrome. Neurotherapeutics, 12:641-650, 2015. https://doi.org/10.1007/s13311-015-0361-y
  7. Pembrey M, Fennell SJ, Super M, et al. : The association of Angelman's syndrome with deletions within 15q11-13. J Med Genet, 26:73-77, 1989.
  8. Hou JW, Wang PJ, Wang TR : Angelman syndrome assessed by neurological and molecular cytogenetic investigations. Pediatr Neurol, 16:17-22, 1997. https://doi.org/10.1016/S0887-8994(96)00264-0
  9. Kim BS, Yeo JS, Kim SO : Anesthesia of a dental patient with Angelman syndrome-A case report. Korean J Anesthesiol, 58:207-210, 2010. https://doi.org/10.4097/kjae.2010.58.2.207
  10. Murakami C, Nahas Pires Correa MS, Nahas Pires Correa F, Nahas Pires Correa JP : Dental treatment of children with Angelman syndrome: a case report. Spec Care Dentist, 28:8-11, 2008. https://doi.org/10.1111/j.1754-4505.2008.00003.x
  11. Clayton-Smith J : Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals. Am J Med Genet, 46: 12-15, 1993. https://doi.org/10.1002/ajmg.1320460105
  12. Ebert MH, Schmidt DE, Thompson T, Butler MG: Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. J Neuropsychiatry Clin Neurosci, 9:75-80, 1997. https://doi.org/10.1176/jnp.9.1.75
  13. Jurd R, Arras M, Rudolph U, et al. : General anesthetic actions in vivo strongly attenuated by a point mutation in the GABA(A) receptor beta3 subunit. FASEB J, 17:250-252, 2003. https://doi.org/10.1096/fj.02-0611fje
  14. Homanics GE, DeLorey TM, Olsen RW, et al. : Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci USA, 94:4143-4148, 1997. https://doi.org/10.1073/pnas.94.8.4143
  15. Gyulai FE, Mintun MA, Firestone LL : Dose-dependent enhancement of in vivo GABA(A)-benzodiazepine receptor binding by isoflurane. Anesthesiology, 95:585-593, 2001. https://doi.org/10.1097/00000542-200109000-00008
  16. Bujok G, Knapik P : Angelman syndrome as a rare anaesthetic problem. Paediatr Anaesth, 14: 281-283, 2004. https://doi.org/10.1046/j.1460-9592.2003.01188.x
  17. Ramanathan KR, Muthuswamy D, Jenkins BJ : Anaesthesia for Angelman syndrome. Anaesthesia, 63:659-661, 2008. https://doi.org/10.1111/j.1365-2044.2008.05439.x
  18. Park SH, Shin TJ, Jang KT, et al. : Dental treatment in a patient with Angelman syndrome due to uniparental disomy. J Korean Dis Oral Health 12:11-15, 2016.