线粒体脑肌病伴高乳酸血症和卒中样发作中癫痫发作的临床特征

doi:10.6040/j.issn.1671-7554.0.2018.144

摘要/Abstract

摘要： 目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)中癫痫发作的临床及电生理规律。方法回顾性分析2009年1月至2017年7月MELAS患者57例的临床资料,总结其癫痫发作的形式、脑电图特点,并依据颅脑磁共振是否有新发卒中样病灶,将患者分为新发卒中样病灶组和无新发卒中样病灶组,依据首发症状及癫痫首发年龄分为癫痫首发组和非癫痫首发组、成人组(≥18岁)和非成人组(<18岁),分析癫痫发作与新发卒中样病灶的关系、耐药性癫痫与首发症状及癫痫首发年龄的关系。结果 57例癫痫发作率为82.5%,首发症状为癫痫发作的患者为35.1%,发作形式以全面性强直阵挛发作(87.2%)最常见。行脑电图检查22例,其中21例(95.5%)表现为非特异性异常, 15例(68.2%)出现癫痫样放电。癫痫发作在新发卒中样病灶组的比例较高,与无新发卒中样病灶组相比差异有统计学意义(P=0.022);耐药性癫痫在癫痫首发组的比例较高,与非癫痫首发组相比差异无统计学意义(P=0.545);耐药性癫痫在非成人组的比例较高,与成人组相比差异有统计学意义(P=0.016)。结论癫痫发作是MELAS的常见临床表现及首发症状,发作形式多样,非特异性的脑电图表现最常见。新发卒中样病灶和癫痫首发年龄是重要影响因素。

关键词: MELAS综合征, 癫痫, 脑电图, 卒中样病灶, 耐药性癫痫

Abstract: Objective To explore the clinical and electrophysiological characteristics of epileptic seizures in patients with mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes(MELAS). Methods The clinical data of 57 MELAS cases treated during Jan. 2009 and Jul. 2017 were retrospectively analyzed, including seizure semiology and electroencephalography(EEG)findings. In order to evaluate the relation between epileptic seizure and new stroke-like lesion, the patients were divided into two groups according to the results of cranial MRI: group with and without new stroke-like lesions. To study the relation between drug-resistant epilepsy and the first onset symptom and the first onset age, the patients were divided into four groups: group whose initial symptom was epileptic seizure, group whose initial symptom was not epileptic seizure, adult group(the first onset age ≥18 years), and non-adult group(the first onset age <18 years). Results The incidence of epileptic seizure was 82.5%. Of all patients, 35.1% had epileptic seizures as the onset symptom, and the most common type was tonic-clonic seizure(87.2%). Among the 22 patients who received EEG examination, 21(95.5%)showed unspecific EEG abnormalities and 15(68.2%)showed epileptiform discharges. The incidence of seizure was higher in patients with new stroke-like lesions than in those without 山东大学学报 (医学版)56卷5期 -杨夏鑫,等.线粒体脑肌病伴高乳酸血症和卒中样发作中癫痫发作的临床特征 \=-(P=0.022). The incidence of drug-resistant epilepsy was higher in patients whose initial symptom was epileptic seizure, but there was no significant difference(P=0.545). The incidence of drug-resistant epilepsy was higher in the non-adult group than in the adult group(P=0.016). Conclusion Seizure is one of the common and the first onset symptoms in MELAS. The seizure semiology is various. The most common EEG characteristic is unspecific slow activity. New stroke-like lesions and the first onset age are important risk factors.

Key words: MELAS syndrome, Epilepsy, Electroencephalography, Stroke-like lesion, Drug-resistant epilepsy

中图分类号:

R742.1

杨夏鑫,孟明珠,纪坤乾,王晓棠,童丽丽,王爱芹,赵秀鹤. 线粒体脑肌病伴高乳酸血症和卒中样发作中癫痫发作的临床特征[J]. 山东大学学报 (医学版), 2018, 56(5): 74-80.

YANG Xiaxin, MENG Mingzhu, JI Kunqian, WANG Xiaotang, TONG Lili, WANG Aiqin, ZHAO Xiuhe. Clinical features of epilepsic seizures in patients with MELAS[J]. Journal of Shandong University (Health Sciences), 2018, 56(5): 74-80.

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