Ragona Francesca, Brazzo Daniela, De Giorgi Ilaria, Morbi Monica, Freri Elena, Teutonico Federica, Gennaro Elena, Zara Federico, Binelli Simona, Veggiotti Pierangelo, Granata Tiziana
Department of Pediatric Neuroscience, Fondazione IRCCS, Istituto Nazionale Neurologico C Besta, Milano, Italy.
Brain Dev. 2010 Jan;32(1):71-7. doi: 10.1016/j.braindev.2009.09.014. Epub 2009 Oct 24.
Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention to the symptoms of onset. All the patients received at least one formal cognitive and behavior evaluation. Epilepsy started at a mean age of 5.7 months; the onset was marked by isolated seizure in 25 infants, and by status epilepticus in 12; the first seizure had been triggered by fever, mostly of low degree in 22 infants; the first EEG was normal in all cases. During the second year of life difficult-to-treat seizures recurred, mostly triggered by fever, hot bath, and intermittent lights and delay in psychomotor development became evident. At the last evaluation, performed at a mean age of 16+/-6.9 years, mental retardation was present in 33 patients, associated with behavior disorders in 21. Our data indicate that the most striking features of SMEI are: the early onset of seizures in a previously healthy child, the long duration of the first seizure, the presence of focal ictal symptoms, and sensitivity to low-grade fever. Diagnosis of SMEI may be proposed by the end of the first year of life, and a definite diagnosis can be established during the second year based on the peculiar seizure-favoring factors, EEG photosensitivity and psychomotor slowing. The temporal correlation between high seizure frequency and cognitive impairment support the role of epilepsy in the clinical outcome, even if a role of channelopathy cannot be ruled out.
我们研究的目的是描述德雷维特综合征（SMEI）的早期临床特征以及神经、认知和行为方面的转归。回顾了37例临床诊断为SMEI患者的临床病史，其中84%的病例存在SCN1A基因突变，特别关注了起病症状。所有患者均接受了至少一次正式的认知和行为评估。癫痫发作起始的平均年龄为5.7个月；25例婴儿以孤立性发作起病，12例以癫痫持续状态起病；22例婴儿的首次发作由发热诱发，多数为低热；所有病例首次脑电图均正常。在生命的第二年，难治性癫痫发作复发，多数由发热、热水浴、间歇性灯光诱发，精神运动发育迟缓变得明显。在最后一次评估时，平均年龄为16±6.9岁，33例患者存在智力发育迟缓，21例伴有行为障碍。我们的数据表明，SMEI最显著的特征是：此前健康儿童癫痫发作早发、首次发作持续时间长、存在局灶性发作症状以及对低热敏感。SMEI的诊断可在出生后第一年末提出，基于特殊的促发癫痫发作因素、脑电图光敏性和精神运动发育迟缓，在第二年可确立明确诊断。癫痫发作高频率与认知障碍之间的时间相关性支持癫痫在临床转归中的作用，尽管不能排除离子通道病的作用。
