【摘要】 目的分析伴强直发作的Dravet综合征的临床及基因突变特点,以期对Dravet综合征少见表型早期诊断及合理治疗。方法对2011年1月至2017年3月在福州总医院儿科神经专科门诊及病房诊治的2例伴强直发作的Dravet综合征的临床和基因突变特点进行回顾性分析,结合相关文献进行总结。结果 2例患儿分别在出生5个月和8个月时以热性惊厥起病,病程中除有全身及偏侧阵挛、强直阵挛和不典型失神等多种Dravet综合征常见的发作形式外,均出现了Dravet综合征少见的强直发作,2例患儿均对多种抗癫痫药物疗效不佳,现均有不同程度的精神运动发育落后,2例基因检测均为SCN1A基因新发错义突变。结论 Dravet综合征可出现少见的强直发作形式,基因检测有助于这种Dravet综合征少见表型的早期诊断及合理治疗。更多还原

【Abstract】 Objective To achieve early diagnosis and correct treatment to the rare phenotype of Dravet syndrome to analyze the clinical features and genetic mutation of Dravet syndrome with tonic seizure. Methods The clinical information was collected from Fuzhou General Hospital between January 2011 to March 2017. The related literature were reviewed. Results Febrile seizures onset in the 5 th month and the 8 th month after birth for 2 cases. Except for general clonic,hemiclonic,general tonic-clonic,myoclonus and atypical absence seizure,tonic seizure was also observed in the course of the disease and the children represented slowing of psychomotor development. De novo missense mutation of SCN1 A gene was found by Genetic screening for 2 cases. Conclusion Tonic seizure can be observed on the Dravet syndrome. Genetic screening is helpful to early diagnosis and correct treatment for this rare phenotype.更多还原