엔젤만 증후군의 특징적인 뇌파 패턴
A Characteristic EEG Pattern of Angelman Syndrome
1
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
.
Abstract
The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region with superimposed interictal epileptiform discharges. High amplitude rhythmic 4–6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.
참고문헌 (13)
- Angelman H., "“Puppet” Children. A report of three cases", Dev Med Child Neurol, 7, pp.681~687 (1965)
- Buoni S, "Diagnosis of Angelman syndrome: clinical and EEG criteria", Brain Dev, 21, pp.296~302 (1999)
- Bower BD, "The “Happy Puppet”syndrome", Arch Dis Child, 42, pp.298~302 (1967)
- Boyd SG, "The EEG in early diagnosis of the Angelman(happy puppet)syndrome", Eur J Pediatr, 147, pp.508~513 (1988)
- Casara GL, "Electroclinical diagnosis of Angelman syndrome: a study of seven cases", Brain Dev, 17, pp.64~68 (1995)
- Clayton-Smith J, "Angelman syndrome :a review of the clinical and genetic aspects", J Med Genet, 40, pp.87~95 (2003)
- Laan LA, "Angelman syndrome in adulthood", Am J Med Genet, 66, pp.356~360 (1996)
- Laan LAEM, "Evolution of epilepsy and EEG findings in Angelman syndrome", Epilepsia, 38, pp.195~199 (1997)
- Matsumoto A, "Epilepsy in Angelman syndrome associated with chromosome 15q deletion", Epilepsia, 33, pp.1083~1090 (1992)
- Mayo O, "Three more “happy puppets”", Dev Med Child Neurol, 15, pp.63~74 (1973)
- Minassian BA, "Angelman syndrome:correlation between epilepsy phenotypes and genotypes", Ann Neurol, 43, pp.485~493 (1998)
- Pampiglione G, "Evolution of Angelman syndrome : follow up of 3 new cases", Electroencephalogr Clin Neurophysiol, 56, pp.72S~ (1983)
- Sugimoto T, "Angelman syndrome in three siblings : characteristic epileptic seizures and EEG abnormalities", Epilepsia, 33, pp.1078~1082 (1992)