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目的分析2例Dravet综合征的临床特点和基因类型。方法收集2例Dravet综合征患儿临床资料,并行视频EEG和基因检测。结果 1.Dravet综合征2例患儿的共同表现:有高热惊厥家族史,发病前智力运动发育正常;均在1岁内起病,初以热性惊厥起病,1岁后逐渐转变为无热惊厥;发作形式包括肌阵挛、部分性发作、不典型失神发作等;对药物治疗反应差,随病程进展出现精神运动发育迟缓或倒退;视频EEG可见棘慢波、多棘慢波发放。2.基因筛查结果示患儿存在SCNIA的基因突变。结论 Dravet综合征是婴儿期以热性惊厥起病但预后差的癫痫性脑病,临床发展过程、发作形式和视频EEG有其独特的特点,确诊需行SCN1A基因测序,截断突变与错义突变的基因类型病情较为严重。
Objective To analyze the clinical features and genotypes of two Dravet syndromes. Methods The clinical data of 2 children with Dravet syndrome were collected, and the video EEG and gene were tested in parallel. The results of 1. Delavet syndrome in 2 cases of children with common manifestations: a family history of febrile seizures before onset of normal mental development; are within 1 year of onset, early onset of febrile seizures, 1 year after gradual change to no Febrile seizures; seizures include myoclonus, partial seizures, atypical absence seizures; poor response to drug treatment, mental retardation or regression with the progress of the disease; spike wave EEG, spike and wave distribution. Genetic screening results show that there is a genetic mutation in SCNIA. Conclusions Dravet syndrome is an epileptic encephalopathy with onset of febrile seizures in infancy but poor prognosis. The clinical development process, seizure patterns and video EEG have unique features. The diagnosis of SCN1A gene sequencing, truncation and missense mutations The genotype is more serious.