Na Ji-Hoon, Lee Young-Mock
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
Front Neurol. 2024 Mar 11;15:1305404. doi: 10.3389/fneur.2024.1305404. eCollection 2024.
Lennox-Gastaut syndrome (LGS), a severe developmental epileptic encephalopathy, has various underlying causes. Mitochondrial respiratory chain complex I (MRC I) deficiency is an important cause of metabolic disorders such as mitochondrial dysfunction that can compromise brain function, thereby causing intractable epilepsy, including LGS. Thus, it can be expected that the presence or absence of MRC I deficiency may affect the treatment outcome of patients with LGS.
In this retrospective study, we aimed to investigate differences in the epilepsy characteristics and treatment outcomes between patients with LGS with and without MRC I deficiency.
We retrospectively reviewed the medical records of 92 patients with LGS. We divided 68 patients with LGS according to the presence ( = 30) or absence ( = 38) of MRC I deficiency and compared their epilepsy characteristics.
Generalized tonic and drop seizures were significantly worse in patients with LGS and MRC I deficiency than in those without MRC I deficiency group at the 1-year follow-up ( < 0.001) and final follow-up 1 ( < 0.001). Patients with LGS and MRC I deficiency had significantly fewer electroencephalogram (EEG) improvements compared to those without MRC I deficiency at the 1-year follow-up ( = 0.031). Additionally, in the final follow-up period, patients with LGS and MRC I deficiency had significantly less improvement in EEG findings compared to patients without MRC I deficiency ( < 0.001).
The overall treatment prognosis-in terms of improvement in traumatic generalized tonic seizure, drop seizure, and EEG findings-is worse in patients with LGS and MRC I deficiency than that in patients with LGS but without MRC I deficiency. Additional and targeted treatment is required to treat LGS with MRC I deficiency.
伦诺克斯 - 加斯托综合征（LGS）是一种严重的发育性癫痫性脑病，有多种潜在病因。线粒体呼吸链复合体I（MRC I）缺乏是代谢紊乱的重要原因，如线粒体功能障碍，可损害脑功能，从而导致难治性癫痫，包括LGS。因此，可以预期MRC I缺乏的存在与否可能会影响LGS患者的治疗结果。
在这项回顾性研究中，我们旨在调查伴有和不伴有MRC I缺乏的LGS患者在癫痫特征和治疗结果方面的差异。
我们回顾性分析了92例LGS患者的病历。我们根据是否存在MRC I缺乏将68例LGS患者分为两组（存在MRC I缺乏组 = 30例，不存在MRC I缺乏组 = 38例），并比较了他们的癫痫特征。
在1年随访时（P < 0.001）和最终随访1时（P < 0.001），伴有MRC I缺乏的LGS患者的全身性强直发作和跌倒发作明显比不伴有MRC I缺乏组更严重。在1年随访时，伴有MRC I缺乏的LGS患者与不伴有MRC I缺乏的患者相比，脑电图（EEG）改善明显更少（P = 0.031）。此外，在最终随访期，伴有MRC I缺乏的LGS患者与不伴有MRC I缺乏的患者相比，EEG结果改善明显更少（P < 0.001）。
就创伤性全身性强直发作、跌倒发作和EEG结果的改善而言，伴有MRC I缺乏的LGS患者的总体治疗预后比不伴有MRC I缺乏的LGS患者更差。对于伴有MRC I缺乏的LGS患者，需要额外的针对性治疗。
