書誌事項
- タイトル別名
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- Cockayne syndrome. Siblings with different ultraviolet sensitivity and early onset of manifestations.
- Siblings with Different Ultraviolet Sensitivity and Early Onset of Manifestations
- 紫外線感受性に差を認めた早期発症姉弟例
この論文をさがす
抄録
Siblings of Cockayne syndrome were reported. Both of them had characteristic manifestations of Cockayne syndrome. A 4-year-old boy had been noted to have irritability and nystagmus from the 6th day of his life, and his elder sister, 8 years old, had been diagnosed as cerebral palsy at the age of 6 months. The elder sister lacked photosensitivity clinically. The proband was more severely affected than his elder sister on both cerebral CT-scan and electrophysiological studies.<BR>Reduced colony forming ability after ultraviolet exposure is currently considered to be the primary abnormality in Cockayne syndrome. The cells originating from the boy had moderately reduced colony forming ability after ultraviolet irradiation, whereas the cells from his elder sister showed mildly reduced colony forming ability. There may be some relationship between the severity of the symptoms and the colony form ing ability. There is a broad spectrum of clinical manifestations in Cockayne syndrome. Further investigations are necessary to clarify the relationship between the cytological abnormalities of Cockayne syndrome and its neurological manifestations.
収録刊行物
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- 脳と発達
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脳と発達 21 (3), 265-270, 1989
THE JAPANESE SOCIETY OF CHILD NEUROLOGY