Rett syndrome 환자의 제증상에 관한 증례보고
Rett syndrome : A case report
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레트 증후군(Rett syndrome)은 1983년 Andreas Rett에 의해 처음으로 보고되었다. 여성에서 주로 호발하며 다양한 민족에서 발견되는 신경장애 중의 하나이다. 레트 증후군의 가장 특징적인 장애의 양상으로 실행증을 들 수 있으며 성장에 따라 집중해서 보는 듯한 눈을 보이기도 한다. 대부분의 레트 증후군은 자폐, 뇌성마비, 규정되지 않은 발달지체로 오진된다. 레트 증후군의 원인은 유전적 요소가 있는 것으로 보이나 아직까지 확실히 밝혀지지 않았다. 본 증례에서 레트 증후군 환아는 과개교합으로 인한 상악 구개부의 손상을 주소로 내원하였다. 상악 구개부의 손상을 감소시키기 위해 교합판을 제작하여 만족할 만한 결과를 얻었기에 보고하는 바이다.
Abstract
Rett syndrome is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett in 1983. The specific features of the Rett syndrome is apraxia. Most of the Rett syndrome has been diagnosed erroneously to autism, cerebral palsy, and unknown developmental disorders. The etiology of the Rett syndrome is not figured out exactly but it seem to have relation with genetic factors. In this case the patient with Rett syndrome had a chief complaint of the injury of palate due to deep bite. We report this case for the satisfactory result using the bite plane to decrease the injury of the palate due to deep bite.
참고문헌 (24)
- "Uber ein eigenartiges hirnatrophisches Syndrome bei Hyperammonamiie im kindesalter", 116, pp.723~726 (1966)
- "A Progressive syndrome of autism,dementia,ataxia and loss of purposeful hand use in girls", 14, pp.471~479 (1983)
- "A Rett Patient with a Typical Angelman EEG", 43, pp.1590~1592 (2002)
- "Clinical phenotypes of classic Rett syndrome", 36, pp.146~152 (2003)
- "MECP2 mutation in male patients with non-specific X-linked mental retardation", 481, pp.285~288 (2000)
- "Heterogeneity in residual function of MeCP2 carrying missense mutation in the methyl CpG binding domain", 40, pp.487~493 (2003)
- "An update on clinically applicable diagnostic criteria in Rett syndrome", 6, pp.293~297 (2002)
- "EEG abnormalities aid diagnosis of Rett syndrome", pp.350~353 (1988)
- "General and oral characteristics in Rett syndrome", 22, pp.147~150 (2002)
- "Importance of Rett syndrome in child neurology", 23, pp.38~43 (2001)
- "Oral manifestations in Rett syndrome a study of 17 cases", 19, pp.349~352 (1997)
- "Oral manifestation of Rett's syndrome", 172, pp.248~249 (1992)
- "Uber ein eigenartiges hirnatrophisches Syndrome bei Hyperammonamiie im kindesalter", 116, pp.723~726 (1966)
- "A Progressive syndrome of autism,dementia,ataxia and loss of purposeful hand use in girls", 14, pp.471~479 (1983)
- "A Rett Patient with a Typical Angelman EEG", 43, pp.1590~1592 (2002)
- "Clinical phenotypes of classic Rett syndrome", 36, pp.146~152 (2003)
- "MECP2 mutation in male patients with non-specific X-linked mental retardation", 481, pp.285~288 (2000)
- "Heterogeneity in residual function of MeCP2 carrying missense mutation in the methyl CpG binding domain", 40, pp.487~493 (2003)
- "An update on clinically applicable diagnostic criteria in Rett syndrome", 6, pp.293~297 (2002)
- "EEG abnormalities aid diagnosis of Rett syndrome", pp.350~353 (1988)
- "General and oral characteristics in Rett syndrome", 22, pp.147~150 (2002)
- "Importance of Rett syndrome in child neurology", 23, pp.38~43 (2001)
- "Oral manifestations in Rett syndrome a study of 17 cases", 19, pp.349~352 (1997)
- "Oral manifestation of Rett's syndrome", 172, pp.248~249 (1992)