Lee Ha Neul, Eom Soyong, Kim Se Hoon, Kang Hoon-Chul, Lee Joon Soo, Kim Heung Dong, Lee Young-Mock
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea; Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Pediatr Neurol. 2016 Nov;64:59-65. doi: 10.1016/j.pediatrneurol.2016.08.016. Epub 2016 Aug 26.
Epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic features. We reviewed epilepsy characteristics and clinical outcome exclusively in a pediatric population.
Twenty-two children and adolescents (13 males) with confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes due to mitochondrial DNA A3243G mutation and epilepsy were recruited. Clinical data including seizure semiology, treatment response, neuroimaging findings, and electroencephalography were analyzed. We also examined the effect of the age at seizure onset and initial symptoms on the clinical variables.
Seizure semiology and electroencephalography abnormalities showed no syndrome-specific findings. Focal seizures occurred in 21 of 22 subjects (95.5%), whereas generalized seizures developed in seven of 22 subjects (31.8%). Twenty of 22 subjects (90.9%) achieved partial to complete reduction of clinical seizures for more than one year with a combination of more than two antiepileptic drugs. The subgroup with earlier seizure onset presented significantly earlier and showed significantly higher rates of drug-resistant epilepsy compared with the late onset group, although there were no significant differences in the initial symptoms. The subjects with severe epileptic conditions tended to have more severe clinical dysfunction and more severe organ involvement.
Both focal and generalized seizures occurred in patients with MELAS. Epilepsy in this population is drug resistant, but a certain degree of clinical seizure reduction was achievable with antiepileptic drugs, with more favorable outcomes than historically expected. Close observation and active epilepsy treatment of individuals with MELAS episodes and earlier seizure onset might improve the prognosis.
线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患者的癫痫发作具有异质性，没有特征性表现。我们专门回顾了儿科人群的癫痫特征和临床结局。
招募了22名因线粒体DNA A3243G突变确诊为线粒体脑肌病伴乳酸血症和卒中样发作且患有癫痫的儿童和青少年（13名男性）。分析了包括发作症状学、治疗反应、神经影像学检查结果和脑电图在内的临床数据。我们还研究了癫痫发作起始年龄和初始症状对临床变量的影响。
发作症状学和脑电图异常未显示出综合征特异性表现。22名受试者中有21名（95.5%）出现局灶性发作，而22名受试者中有7名（31.8%）出现全身性发作。22名受试者中有20名（90.9%）使用两种以上抗癫痫药物联合治疗后临床发作部分至完全缓解超过一年。癫痫发作起始较早的亚组与发作起始较晚的亚组相比，发作明显更早，耐药性癫痫的发生率也明显更高，尽管初始症状没有显著差异。癫痫病情严重的受试者往往有更严重的临床功能障碍和更严重的器官受累。
MELAS患者既会出现局灶性发作，也会出现全身性发作。该人群的癫痫具有耐药性，但使用抗癫痫药物可实现一定程度的临床发作减少，预后比以往预期的更有利。对MELAS发作且癫痫发作起始较早的个体进行密切观察和积极的癫痫治疗可能会改善预后。
