Authors :
Presenting Author: Ji-Hoon Na, MD, PhD – Gangnam Severence Hospital, Yonsei University College of Medicine, Seoul, Korea
Young-Mock Lee, MD, PhD – Professor, Gangnam Severence Hospital, Yonsei University College of Medicine, Seoul, Korea, Departments of Pediatrics
Rationale:
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, 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 LGS patients. We investigated differences in the epilepsy characteristics and treatment outcomes between patients with LGS with and without MRC I deficiency.
Methods:
We retrospectively reviewed the medical records of 92 patients with LGS. We divided the 68 patients into the LGS with MRC I deficiency (n = 30) and LGS without MRC I deficiency (n = 38) groups and compared their epilepsy characteristics.
Results:
Generalized tonic and drop seizures were significantly worse in the LGS with MRC I deficiency than in the LGS without MRC I deficiency group at both the one year and final follow-up periods (p < 0.001, p < 0.001, respectively). The LGS with MRC I deficiency group showed significantly lower electroencephalogram (EEG) improvements than the LGS without MRC I deficiency group at the 1-year period (p = 0.031). Additionally, in the final follow-up period, the LGS with MRC I deficiency group showed a significantly lower improvement in EEG findings than the LGS without MRC I deficiency group (p < 0.001).