Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, PR. China.
Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, PR. China.
Seizure. 2023 Mar;106:110-116. doi: 10.1016/j.seizure.2023.02.014. Epub 2023 Feb 18.
This study aimed to characterize the clinical features of epilepsy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and analyze the clinical determinants for drug-resistant epilepsy in MELAS.
A single-center, retrospective study was conducted to investigate the clinical features of epilepsy in patients with MELAS. Collected variables included seizure semiology, electroencephalography (EEG), muscle biopsy, genetic testing, neuroimaging findings, resting serum lactic value and modified Rankin scale (mRS) of patients with MELAS. We also investigated the differences between the adult-onset group and the child-onset group and analyzed the risk factors for drug-resistant epilepsy in MELAS.
We studied 97 patients (56 males: 41 females) with confirmed MELAS. Epileptic seizure occurred in 100.0% of patients and the initial symptom of 69.1% patients was epileptic seizure. The average age of disease onset was 21.0 years, ranging from 2 to 60 years. The seizure types of these patients with MELAS were variable, with generalized onset (51.5%) to be the most common type. The EEG changes in the patients with MELAS were mainly slow wave (90.9%) and epileptiform discharge (68.2%). The child-onset group with earlier seizure onset presented significantly higher resting serum lactic value (p = 0.0048) and lower incidence of stroke-like lesion in the brain (p = 0.003), especially in the temporal lobe (p < 0.001), compared with the adult-onset group. Importantly, drug-resistant epilepsy in MELAS was demonstrated to be closely related to the earlier age of seizure onset (p = 0.013), as well as the higher mRS score (p < 0.001) and higher resting serum lactic value (p = 0.009).
Early identification of MELAS should be considered among individuals with recurrent epilepsy through clinical screening. Age of seizure onset and resting serum lactic value may predict the development of drug-resistant epilepsy in MELAS. Close observation and appropriate anti-epileptic treatment are indispensable for individuals with MELAS to improve the prognosis. Further studies with larger sample size are required to further evaluate the risk factors of drug-resistant epilepsy in MELAS and provide guidance on treatment of MELAS.
本研究旨在描述线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）患者的癫痫临床特征，并分析 MELAS 患者药物抵抗性癫痫的临床决定因素。
采用单中心回顾性研究方法，对 MELAS 患者的癫痫临床特征进行研究。收集的变量包括癫痫发作的症状学、脑电图（EEG）、肌肉活检、基因检测、神经影像学表现、患者静息血清乳酸值和改良 Rankin 量表（mRS）。我们还研究了成年发病组和儿童发病组之间的差异，并分析了 MELAS 患者药物抵抗性癫痫的危险因素。
我们研究了 97 例（56 例男性：41 例女性）确诊的 MELAS 患者。100.0%的患者出现癫痫发作，69.1%的患者首发症状为癫痫发作。疾病平均发病年龄为 21.0 岁，年龄范围为 2 至 60 岁。这些 MELAS 患者的癫痫发作类型多种多样，全身性发作（51.5%）最常见。MELAS 患者的脑电图变化主要为慢波（90.9%）和癫痫样放电（68.2%）。与成年发病组相比，发病年龄更早的儿童发病组患者静息血清乳酸值显著升高（p=0.0048），且脑中风样病变的发生率较低（p=0.003），特别是在颞叶（p<0.001）。重要的是，MELAS 患者的药物抵抗性癫痫与癫痫发作的更早发病年龄（p=0.013）、更高的 mRS 评分（p<0.001）和更高的静息血清乳酸值（p=0.009）密切相关。
通过临床筛查，对于反复发作性癫痫的个体，应早期考虑 MELAS。癫痫发作的发病年龄和静息血清乳酸值可能预测 MELAS 患者药物抵抗性癫痫的发生。对于 MELAS 患者，密切观察和适当的抗癫痫治疗是必不可少的，以改善预后。需要更大样本量的进一步研究来进一步评估 MELAS 患者药物抵抗性癫痫的危险因素，并为 MELAS 的治疗提供指导。
