Abstracts

Rationale: Leigh syndrome is a one of mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system. The aim of this study was to describe the dominant neurological clinical features and analyze data related to epilepsy in Leigh syndrome accompanied by mitochondrial DNA mutation. Methods: Patients who were confirmed as mitochondrial cytopathy based on clinical and imaging findings, and genetic diagnosis were enrolled in this study. Among these patients, those with Leigh syndrome had mitochondrial DNA mutation in the molecular sequencing analysis. A retrospective review of the enrolled patients’ medical charts obviously confirmed Leigh syndrome, and all analyzed records were sorted respectively as electroencephalography (EEG) findings, semiology, brain imaging findings, and biochemical results. We also compared two groups divided into patients with epilepsy and those without epilepsy, and analyzed disease-specific features, including brain magnetic resonance imaging findings and biochemical features. Results: Clinical seizure was observed in 45% of the enrolled patients, and focal seizure was observed in the largest proportion (50%) of patients. Some patients present involuntary movements which was categorized as unclassified type (20%). A slow and disorganized background on EEG was found in all the records, of which 70% were focal and multifocal discharges. Sixty percent of the enrolled patients with epilepsy were taking fewer than 3 anti-epileptic drugs, and the remaining 40% showed drug resistance. Conclusions: Leigh syndrome with mitochondrial DNA mutation shows a high proportion of manifestations in the central nervous system, but the prevalence of epilepsy was not relatively high. In addition, more than half of the patients were responsive to anti-epileptic drugs, which presents a positive aspect of medical therapeutic effect. Patients with involuntary movements assessed as unclassified seizure should undergo EEG for clinical correlation and treatment. More patients and massive data on Leigh syndrome accompanied by mitochondrial DNA mutation are needed to improve the accuracy and specificity of this study. Funding: none