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DENTAL TREATMENT IN A PATIENT WITH ANGELMAN SYNDROME DUE TO UNIPARENTAL DISOMY

편친 이염색체성 엔젤만 증후군(Angelman syndrome) 환자의 치과치료

  • Park, Sung-Hee (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Shin, Teo-Jeon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Hyun, Hong-Keun (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) ;
  • Lee, Sang-Hoon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Kim, Chong-Chul (Department of Pediatric Dentistry, School of Dentistry, Seoul National University) ;
  • Jang, Ki-Taeg (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
  • 박성희 (서울대학교 치의학대학원 소아치과학교실) ;
  • 신터전 (서울대학교 치의학대학원 소아치과학교실) ;
  • 현홍근 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김영재 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김정욱 (서울대학교 치의학대학원 소아치과학교실) ;
  • 이상훈 (서울대학교 치의학대학원 소아치과학교실) ;
  • 김종철 (서울대학교 치의학대학원 소아치과학교실) ;
  • 장기택 (서울대학교 치의학대학원 소아치과학교실)
  • Received : 2016.06.02
  • Accepted : 2016.06.29
  • Published : 2016.06.30

Abstract

Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, and speech impairment. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking swallowing disorder, and excessive chewing behavior. A 3-year-6-month old girl with Angelman syndrome was scheduled for dental treatment. She had multiple caries, but she was poorly cooperative for treatment due to developmental delay and movement disorder, so general anesthesia was considered. The patient with Angelman syndrome was successfully treated under general anesthesia. There were no postoperative complications related to anesthesia and dental treatment. When treating children with this syndrome, the dentist needs to manage their uncooperative behavior and medical problem.

저자는 엔젤만 증후군 중 그 발생 기전이 2% 이하인 편친 이염색체성 엔젤만 증후군 증례를 안전하고 효과적으로 치료하였기에 이를 보고하는 바이다. 환자는 근육간대경련발작(myoclonic seizure)의 병력으로, 조절을 위해 항경련제(Valproate)를 복용중이었고, 전반적인 발육 장애와 지적 장애, 언어 장애를 나타내고 있었다. 구내 소견으로는 치간 이개, 하악골 전돌, 거대설과 연하 장애가 관찰되었으며, 잦은 불수의적 운동 때문에 구강 위생 상태는 매우 불량 하였다. 치료 범위가 광범위하고, 환자의 협조도를 얻을 수 없었으며, GABA 수용체의 기능장애로 인해 진정 약물을 이용한 행동 조절은 효과적이지 않을 것으로 판단하여 전신마취 하에서 치과치료를 시행하였고, 성공적으로 치과치료가 가능했다. 엔젤만 증후군 환자들도 정기적인 치과 방문을 통한 구강 위생 교육, 전문가 치면 세마, 불소 도포가 이루어진다면 적절한 구강 건강을 유지할 수 있으며, 주기적인 치과 방문을 통해 환자가 치과 진료에 적응 한 뒤에는 간단한 치료도 가능하다.

Keywords

References

  1. Angelman H : "Puppet"children"a report of three cases. Dev Med Child Neurol, 7:681-688, 1965.
  2. 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
  3. Murakami C, Correa MSNP, Correa FNP, Correa JPNP : Dental treatment of children with Angelman syndrome: a case report. Special Care in Dentistry, 28:8-11, 2008. https://doi.org/10.1111/j.1754-4505.2008.00003.x
  4. Williams CA, Beaudet AL, Clayton-Smith J, et al. : Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet, 140:413-418, 2006.
  5. Hou JW, Wang PJ, Wang TR : Angelman syndrome assessed by neurological and molecular cytogenetic and molecular investigation. Pediatr Neurol, 16:17-22, 1997 https://doi.org/10.1016/S0887-8994(96)00264-0
  6. Pembrey M, Fennell SJ, van den Berghe J, et al. : The association of Angelman syndrome and deletions within 15q11-13. J Med Genet, 26:73-77, 1989.
  7. Moncla A, Malzac P, Voelckel MA, et al. : Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Eur J Hum Genet, 7:131-9, 1999 https://doi.org/10.1038/sj.ejhg.5200258
  8. 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
  9. Schneider BB, Main DM : Angelman syndrome. J Am Optom Assoc, 64:502-506, 1993.
  10. Homanics GE, DeLorey TM, Firestone LL, 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
  11. Jurd R, Arras M, Lambert S, 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
  12. Jeong TS : Dental treatment of the patient with epilepsy and seizure disorders. J Korean Dis Oral Health, 3:69-74, 2007.
  13. Clayton-Smith J, Laan L : Angelman syndrome: a review of the clinical and genetic aspects. JMed Genet, 40:87-95, 2003. https://doi.org/10.1136/jmg.40.2.87