全面性癫伴热性惊厥附加症8家系临床分析  

Clinical Analysis of 8 Families with Generalized Epilepsy with Febrile Seizures Plus

作　　者：陈志红[1,2] 翟琼香[1] 桂娟[1] 张宇昕[1] 郭予雄[1] 丁健[1] 郝英[1] 

机构地区：[1]广东省人民医院广东省医学科学院儿科,广州510080 [2]南方医科大学研究生院,广州510515

出　　处：《实用儿科临床杂志》2010年第9期673-676,共4页Journal of Applied Clinical Pediatrics

基　　金：广东省自然科学基金(20071015);广东省科技计划基金(2009B030801250)

摘　　要：目的探讨全面性癫伴热性惊厥附加症(GEFS+)的临床特点。方法收集2004年1月-2009年12月收治的8个GEFS+家系资料,详细调查及建立家系图谱,并对患者及家系成员的临床症状和体征进行总结分析。对各个家系的临床发作和癫综合征进行分类。应用SPSS13.0软件进行统计学分析。结果 8个家系共有101名家系成员接受调查,结果发现受累患者37例。其中特发性全面性癫2例,不能分类者3例;符合GEFS+临床表型患者32例(死亡1例),其中男19例,女13例;男女性别比较差异无统计学意义(χ2=0.40,P>0.05);表现为热性惊厥(FS)者21例,热性惊厥附加症(FS+)者6例,FS+伴失神发作2例,FS+伴局灶性发作2例,FS+伴肌阵挛1例。结论 FS+是一种常见儿童时期起病的癫综合征,常见表型为FS和FS+,少见的表型为FS+伴失神发作、FS+伴肌阵挛发作、FS+伴局灶性发作等。FS+家系符合常染色体不完全显性遗传,具有明显的表型异质性和遗传异质性。Objective To explore the clinical characteristics of 8 Chinese families with generalized epilepsy with febrile seizure plus （ GEFS ＋ ）. Methods The probands of 8 families in China from Jan. 2004 to Dec. 2009, who were referred for recurrent seizures and seizure history, were investigated for affected individuals and unaffected, thus the comprehensive pedigrees were constructed and the clinical data were analyzed. The seizures and epilepsy syndromes were classified. The data were analyzed by SPSS 13.0 software. Results One hundred and one members of 8 families were investigated and 37 cases were affected individuals,of which 32 cases met the criterion of GEFS＋ （1 case deceased ）, in which 2 patients were diagnosised of idiopathic generalized epilepsy （ IGE）, 3 cases were unclassified according to their seizures. The 32 cases included 19 male and 13 female and there were no gender difference in the morbility of GEFS＋. The phenotypes of probands were febrile seizures （FS） in 21 cases, febrile seizures plus （FS＋ ） in 6 cases,FS＋ with absence seizure in 2 cases, and FS＋ with focal seizure in 2 cases, FS＋ with myoclonic seizare in 1 case. Conclusions GEFS＋ is a common hereditary epileptic syndrome which occurs in childhood. FS and FS ＋ are the most common phenotypes while FS＋ with absence seizure, FS＋ with myoclonic seizure and FS ＋ with focal seizure are rare. The proband appears to be an incomplete autosomal - dominant inheritance. GEFS＋ shows obvious phenotypic heterogeneity and genetic heterogeneity.

关 键 词：全面性癫痫伴热性惊厥附加症 家系 表型 临床分析 

分 类 号：R742.1[医药卫生—神经病学与精神病学]