Pediatric Emergencies Service, Child and Adolescent Department, University Hospital, Geneva, Switzerland.
Epilepsia. 2010 Dec;51(12):2470-3. doi: 10.1111/j.1528-1167.2010.02761.x. Epub 2010 Nov 3.
Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation. To our knowledge, SE was reported in only four FXS patients. We report the clinical features and electroencephalography (EEG) findings of five children with FXS, who presented with SE as their initial seizure.
脆性 X 综合征（FXS）是最常见的遗传性智力障碍的原因，其癫痫发作较为常见。然而，癫痫持续状态（SE）在 FXS 中似乎较为罕见，特别是作为初始癫痫发作表现。据我们所知，仅在 4 例 FXS 患者中报告过 SE。我们报告了 5 例以 SE 为首发癫痫发作的 FXS 患儿的临床特征和脑电图（EEG）表现。
