全面性癫癇伴热性惊厥附加症的临床和脑电图特征分析  

Clinical and electroencephalographic characteristics of generalized epilepsy with febrile seizures plus

作　　者：任连坤[1] 吴立文[1] 卢强[1] 金丽日[1] 刘秀琴[1] 崔丽英[1] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院神经科,100730

出　　处：《中华神经科杂志》2005年第5期293-296,共4页Chinese Journal of Neurology

摘　　要：目的探讨全面性癫伴热性惊厥附加症(GEFS+)的临床和脑电图(EEG)特点。方法收集4个GEFS+的家系资料,通过详细的调查建立完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果4个家系共有60名成员,其中受累者20例,表现为FS者5例,FS+者7例,FS+与失神发作2例,FS+与肌阵挛发作1例,FS+与失神和肌阵挛发作1例,此例患者发作间期EEG呈现局灶性癫放电和全面性癫放电共存的现象,1例表现为FS+和部分性发作,其发作间歇期EEG呈现中央中颞棘波灶,个体诊断符合良性罗兰多区癫。另外,受累者有肯定的临床发作,但是由于不能收集到可靠的发作表现资料,无法进行发作分类者3例。受累者神经系统检查以及头颅CT或磁共振成像(MRI)检查均未见异常。结论GEFS+的正确诊断需要注重个体,立足于整个家系进行,其临床发作谱还包括部分性发作,脑电图也有局灶的癫样放电。良性罗兰多区癫也许是GEFS+的一个新表现型。ObjectiveTo describe the clinical and electroencephalogram (EEG) findings of four pedigrees with generalized epilepsy with febrile seizures plus (GEFS^+) in China. MethodsThe probands of four families from North China were referred to our epileptic center for recurrent seizures,seizures histories were investigated on affected individuals as well as the unaffected, we attempted to classify types and epilepsy syndrome according to international classification. ResultsDetailed family trees were constructed, the four families included a total of 20 affected individuals (1 deceased) and 40 unaffected individuals (2 deceased). The age at onset was almost before adult. There were a broad spectrum of phenotypes, febrile seizures (FS) in 5, FS^+ in 7, FS^+ and absence seizure in 2, FS^+ and myoclonic seizure in 1, FS^+ and absence and myoclonic seizure in 1, the affected’s interictal EEG showed general 3 Hz spike waves and unilateral centro-temporal spikes, a new phenotype (simple partial motor seizure accompanying interictal unilateral centro-temporal spikes) was found in one family, and the affected had FS^+ history too, in addition, seizures in 3 affected couldn’t be classified for incomplete materials. MRI or CT scans of all affected were negative. The attacks were well controlled by antiepileptic drugs. ConclusionGEFS^+ is a new and underdeveloped epilepsy syndrome, this study confirms that the heterogeneity of phenotypes within families should be the hallmark of GEFS^+, a new phenotype is first reported in this article. Further genetic research is ongoing.

关 键 词：热性惊厥 全面性 附加症 特征分析 GEFS^+ 脑电图(EEG) 肌阵挛发作 部分性发作 神经系统检查 癫痫放电 临床发作 发作间歇期 磁共振成像 癫痫样放电 家系资料 临床资料 失神发作 发作间期 个体诊断 发作分类 头颅CT 正确诊断 

分 类 号：R742.1[医药卫生—神经病学与精神病学]