Lee Soonie, Baek Min Seong, Lee Young Mock
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Yonsei Med J. 2019 Jan;60(1):106-114. doi: 10.3349/ymj.2019.60.1.106.
Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as Lennox-Gastaut syndrome (LGS) is as high as 25%. This study aimed to investigate the clinical manifestations, diagnoses, treatments, and epilepsy in LGS, which is associated with mitochondrial disease.
A retrospective study was conducted on 372 patients who were diagnosed with mitochondrial disease between 2006 and 2016. Of these 372 patients, 40 patients diagnosed with LGS were selected, and they were classified into two groups based on the history of West syndrome. Patient characteristics were reviewed, and associations between clinical factors and outcomes after the treatment were analyzed.
The proportion of individuals with mitochondrial disease with LGS with a history of West syndrome was 32.5%. Among the patients with mitochondrial disease with LGS, neonatal seizure (=0.029), seizure as the first symptom (=0.018), and generalized paroxysmal fast activity frequency on electroencephalogram (=0.018) in the group with a history of West syndrome were statistically significantly high. The first symptom onset (0.6±0.4 yrs vs. 1.6±0.9 yrs, =0.003) and first seizure onset (0.9±0.7 yrs vs. 3.9±3.1 yrs, <0.001) were significantly faster in patients with a history of West syndrome.
Close monitoring of the medical condition and early intervention might improve the prognosis of individuals with mitochondrial disease with LGS and a history of West syndrome.
既往研究表明，神经系统症状在线粒体疾病患者中占主导地位，且这些患者大多患有与癫痫相关的疾病。这些患者被归类为Lennox-Gastaut综合征（LGS）的比例高达25%。本研究旨在调查与线粒体疾病相关的LGS的临床表现、诊断、治疗及癫痫情况。
对2006年至2016年间诊断为线粒体疾病的372例患者进行回顾性研究。在这372例患者中，选取40例诊断为LGS的患者，并根据West综合征病史将他们分为两组。回顾患者特征，并分析临床因素与治疗后结局之间的关联。
有West综合征病史的线粒体疾病合并LGS患者的比例为32.5%。在有West综合征病史的线粒体疾病合并LGS患者组中，新生儿惊厥（=0.029）、惊厥为首发症状（=0.018）以及脑电图上的广泛性阵发性快活动频率（=0.018）在统计学上显著更高。有West综合征病史的患者首发症状出现时间（0.6±0.4岁对1.6±0.9岁，=0.003）和首次惊厥发作时间（0.9±0.7岁对3.9±3.1岁，<0.001）明显更早。
密切监测病情并早期干预可能改善有West综合征病史的线粒体疾病合并LGS患者的预后。
