摘要
目的探讨家族性颞叶癫痫(FTLE)的临床和脑电图(EEG)特点。方法收集6个 FTLE的家系资料,通过详细的调查,建立较完善的家系谱,并对受累者的临床资料、EEG进行分析总结。结果6个家系共78名家族成员,其中受累者20例,每个家系2-6例受累者不等,2代发病居多。发病年龄0．5-27岁,平均(13．7±10．5)岁。平均发作频率(6．7±8．9)次/月。表现为复杂部分性发作13 例次(76．5％),继发全身强直一阵挛性发作12例次(70．6％),单纯部分性发作4例次(23．5％),强直发作和全身强直一阵挛性发作各1例次;无法分类3例。20例受累者中3例出现复杂视幻觉,1例出现听幻觉。受累者中13例进行发作间期EEG检查,仅1例示颞叶局灶痫性放电(7．7％),2例痫性异常放电, 余未见明显异常;10例进行MRI检查,仅1例示右额颞发育异常(10．0％)。18例受累者疗效观察,3例发作自然缓解,另15例接受抗癫痫药物(AEDs)治疗,14例有效(4例发作控制),仅1例无效。结论 FTLE家庭受累者临床症状呈多样性,发作间期EEG大部分未见局灶异常放电,MRI检查未见异常。 FTLE的正确诊断主要依据患者临床发作特征和家系谱,AEDs治疗疗效良好。
Objective To describe the clinical and electroencephalographic （EEG） findings of familial temporal lobe epilepsy （FTLE）. Methods The probands of 6 pedigrees with FTLE at our epileptic center were investigated with regard to recurrent seizures, seizure histories and EEG in the affected individuals as well as the unaffected. Results Detailed family trees were constructed, the 6 families included a total of 20 affected individuals （2-6 cases in each family） and 58 unaffected individuals. The mean age of seizure onset was （13.7±10.5） （0.5-27）years old. The mean frequency of seizures was 6.7±8.9 monthly. Seizure types of the affected individuals were complex partial seizure （76.5%）, simple partial seizures （23.5%）, secondary generalized tonic-clonic seizure （70.6%）, and rare generalized tonic-clonic seizure and tonic seizure. Three of 20 patients developed visual hallucination, but only 1 had auditory hallucination. EEG in the 13 cases showed focal temporal lobe epileptiform discharges in 1 case, epileptiform abnormal discharges in 2 cases, no obvious abnormity in others. MRI in 10 cases revealed right frontotemporal dysplasia in 1 case. In 18 affected individuals, 3 cases were relieved naturally, and the others underwent anti-epileptic therapy, which worked in 14 and did not in 1. Conclusion The affected individuals with FTLE have various clinical manifestations, and most of them did not show anything abnormal in EEG and MRI during seizure. The diagnosis of FTLE, therefore, depends mainly on the clinical manifestations and the family pedigree. Anti-epileptic drugs are effective in the treatment of temporal lobe epilepsy.
出处
《中华神经医学杂志》
CAS
CSCD
2006年第5期490-493,共4页
Chinese Journal of Neuromedicine
基金
广东省自然科学基金(04300792)
关键词
家族性颞叶癫痫
脑电图
系谱
Familial temporal lobe epilepsy
Electroencephalogram
Pedigree
