Epilepsy in newborns with tuberous sclerosis complex
Epilepsy in newborns with tuberous sclerosis complex
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DOI：
10.1016/j.ejpn.2014.06.009
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发表时间：
2014-11-01
影响因子：
3.1
通讯作者：
Jozwiak, Sergiusz
中科院分区：
文献类型：
--
作者：
Kotulska, Katarzyna;Jurkiewicz, Elzbieta;Jozwiak, Sergiusz
背景资料：癫痫影响高达90%的TSC患者，他们中的大多数在3-5个月大时癫痫发作，经过一段时间的潜伏性癫痫发生，但也有一些更早发展为癫痫。目的：这项工作的目的是确定一个大的TSC患者队列中新生儿癫痫发作的发病率、临床特征和危险因素。方法：对421例TSC患者的医疗数据进行了回顾性分析。在出生后前4周内发生癫痫的患者被纳入研究。临床和治疗数据，EEG，MRI和遗传分析进行了评估。结果：癫痫是目前在366例（86.9%）患者。21例（5.7%）在新生儿时发生癫痫。平均随访44.86（6-170）个月。随访结束时，6例患者无癫痫发作，15例患者出现耐药性癫痫发作。在81%的患者中发现了精神发育迟滞。11例（52.4%）患者的脑部MRI显示大脑皮质大畸形，符合局灶性皮质发育不良（FCD）的标准。TSC 1和TSC 2突变病例均显示FCD。新生儿癫痫的其他危险因素包括：围产期并发症和先天性SEGA。FCD的存在与更严重的癫痫和更差的神经心理学结果相关。癫痫手术导致癫痫发作control.Conclusions改善：TSC的新生儿癫痫发作往往与大脑皮层的大畸形。FCD患者发生严重耐药性癫痫的风险高，神经心理结局差。早期癫痫手术可能是有益的，在这种情况下应该考虑。(C)2014年欧洲儿科神经病学学会。由爱思唯尔有限公司出版。保留所有权利。
Background: Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3-5 months, after a period of latent epileptogenesis, but some develop epilepsy earlier.Aims: The aim of this work was to identify incidence, clinical characteristics, and risk factors for neonatal onset of epilepsy in a large cohort of TSC patients.Methods: A retrospective review of medical data of 421 TSC patients was performed. Patients who developed epilepsy within first 4 weeks of life were included in the study. Clinical and treatment data, EEG, MRI, and genetic analyses were assessed.Results: Epilepsy was present in 366 (86.9%) patients. Twenty-one (5.7%) developed epilepsy as newborns. Mean follow-up was 44.86 (6-170) months. Six patients were seizure free and 15 had drug-resistant seizures at the end of follow-up. Mental retardation was found in 81% of patients. In 11 (52.4%) patients brain MRI revealed large malformations of cerebral cortex, meeting the criteria for focal cortical dysplasia (FCD). FCD was revealed in both TSC1 and TSC2 mutation cases. Other risk factors for neonatal epilepsy included: perinatal complications and congenital SEGAs. Presence of FCD was associated with more severe epilepsy and worse neuropsychological outcome. Epilepsy surgery resulted in improvement in seizure control.Conclusions: Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. Patients with FCD are at high risk of severe drug-resistant epilepsy and poor neuropsychological outcome. Early epilepsy surgery may be beneficial and should be considered in such cases. (C) 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.