| A Case of Neuronal Ceroid-Lipofuscinosis with characterstic photic evoked spikes in EEG |
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Joo Hyun Han1, Jae Won Oh1, Jae Hoon Shin1, In Joon Seol1, Young Hyae Koh2, Moon Hyang Park2 |
1Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
2Department of Pathology, College of Medicine, Hanyang University, Seoul, Korea |
| 특징적 광자극 뇌파소견을 보인 Neuronal Ceroid-Lipofuscinosis 1례 |
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한주현1, 오재원1, 신재훈1, 설인준1, 고영혜2, 박문향2 |
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 병리학교실 |
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| Abstract |
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We experienced a case of neuronal ceroid lipofuscinosis in a 1 year old female child. Her chief complaints on admission were retarded growth and development, recurrent seizures and hypotonia.
Electroencephalographic examination showed very characteristic photic responses, so called, photic evoked spikes which are synchronous with the flashes at 5 flashes per second. Final diagnosis was made with electron microscopic examination of peripheral blood lymphocyte, which showed finger printed body. We presented a case with brief review of related literatures. |
| Key Words:
Neuronal ceroid lipofuscinosis |
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