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目的探讨病灶多变的家族性部分性癫(FPEVF)家系的临床特征。方法收集2008-2010年就诊于本院小儿神经专科门诊的2个FPEVF家系资料,建立家系系谱图,对先证者家系成员的临床特征、脑电图(EEG)、头颅MR I等进行总结分析。结果 1.FPEVF 2个家系共48名成员,存活44名,受累患者达21例(1例死亡)。男12例,女9例;平均发病年龄5岁,起病年龄:家系A:1~7岁,家系B:2~10岁。2.发作前无明显诱发因素,白天夜间均有发作,临床表现为单纯部分性发作10例,复杂部分性发作6例,局灶继发全面性发作3例,亚临床发作2例,其中1例伴热性惊厥史。3.EEG检查19例,均有样放电,表现为频发尖波、棘波、尖慢波或棘慢波,其中起源于颞区、额颞区各5例,额区、额顶区各4例,颞枕区1例。4.存活患者20例的神经系统检查均正常,1例双侧海马异常,余MR I均正常。5.自行缓解6例,2例先证者经丙戊酸钠、托吡酯治疗,发作和EEG均有明显改善。结论 1.FPEVF是一种少见的家族性部分性癫综合征,呈常染色体不完全显性遗传,昼夜均可发作,临床多见部分性发作。2.具有明显的表型异质性和遗传异质性,临床易误诊为其他家族性部分性癫,家族史调查是诊断FPEVF的关键。3.不同家系成员脑电图部分性样放电起源于不同脑区,多见于额颞区,且大脑结构无异常。
Objective To investigate the clinical features of familial partial epilepsy (FPEVF) with variable focus. Methods Two FPEVF pedigree data of pediatric neurology clinic attending our hospital from 2008 to 2010 were collected to establish pedigree pedigree and analyze the clinical characteristics, EEG and MRI of proband family members . A total of 48 FPFVF family members, survived 44, involved in up to 21 patients (1 death). 12 males and 9 females; average age of onset of 5 years old, onset age: family A: 1 to 7 years old, family B: 2 to 10 years old. 2. Before the onset of no obvious predisposing factors, have attacks during the night and night, the clinical manifestations of simple partial seizures in 10 cases, complex partial seizures in 6 cases, focal secondary to comprehensive attacks in 3 cases, 2 cases of subclinical seizures, 1 Cases with febrile seizures history. EEG examination of 19 cases, all have kind of discharge, showed frequent spikes, spikes, sharp slow wave or spike and slow wave, which originated in the temporal and frontotemporal regions in 5 cases, the amount of frontal area 4 cases, 1 case of temporal occipital. Survival patients 20 patients with normal neurological examination, 1 case of bilateral hippocampus abnormalities, I MR I were normal. 5 cases of self-remission in 6 cases, 2 cases of proband by sodium valproate, topiramate treatment, seizures and EEG were significantly improved. FPEVF is a rare familial partial epilepsy syndrome, showing autosomal imperfect dominant inheritance, day and night can be attacked, more common in clinical seizures. 2. With obvious phenotypic heterogeneity and genetic heterogeneity, clinical misdiagnosis as other familial partial epilepsy, family history survey is the key to diagnosis of FPEVF. 3. Different family members EEG part of the sample discharge originated in different brain regions, more common in frontotemporal area, and no abnormal brain structure.