Yıldız Edibe Pembegul, Ozkan Melis Ulak, Uzunhan Tugce Aksu, Bektaş Gonca, Tatlı Burak, Aydınlı Nur, Çalışkan Mine, Özmen Meral
1 Division of Pediatric Neurology, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.
2 Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey.
J Child Neurol. 2019 Jan;34(1):33-37. doi: 10.1177/0883073818811538. Epub 2018 Oct 26.
Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. Patients with seizure reduction ≥50% were considered responders. Most of our patients had severe (47%) or moderate (33%) cognitive disabilities, although 14% had mild cognitive disability. There was a significant difference in both status epilepticus and age between the groups with normal/mild versus severe/moderate neurocognitive prognoses. Of the patients, 85.7% were using stiripentol. The mean duration of stiripentol use was 41.2 months (range: 24-64 months). In 12 patients (57%), the seizure frequency decreased by more than 50%, and 2 of them were seizure-free. Status epilepticus was not recorded after stiripentol treatment in 8 of 11 patients with status epilepticus. Despite the small sample size, our results suggest that stiripentol has a favorable efficacy. In addition, considering the absence of status epilepticus after treatment and the negative effects of status epilepticus on cognitive development, early treatment should be initiated in SD patients, for whom disease control is difficult.
德雷维特综合征是一种罕见的婴儿期进行性癫痫性脑病。司替戊醇可降低德雷维特综合征患者的癫痫发作频率。我们评估了德雷维特综合征患者的临床特征及其对司替戊醇的反应。我们回顾性收集了2016年6月至2017年6月期间在我们门诊接受司替戊醇治疗的21例德雷维特综合征患者（11例女性；平均年龄8.2岁，范围：5.4 - 15岁）的数据。癫痫发作减少≥50%的患者被视为有反应者。我们的大多数患者有严重（47%）或中度（33%）认知障碍，尽管14%有轻度认知障碍。在神经认知预后正常/轻度与重度/中度的组之间，癫痫持续状态和年龄均存在显著差异。在这些患者中，85.7%正在使用司替戊醇。司替戊醇的平均使用时长为41.2个月（范围：24 - 64个月）。12例患者（57%）的癫痫发作频率降低了50%以上，其中2例无癫痫发作。11例有癫痫持续状态的患者中，8例在司替戊醇治疗后未记录到癫痫持续状态。尽管样本量小，但我们的结果表明司替戊醇有良好疗效。此外，考虑到治疗后无癫痫持续状态以及癫痫持续状态对认知发育的负面影响，对于疾病控制困难的德雷维特综合征患者应尽早开始治疗。
