Abstracts

This study aimed to characterize clinical and laboratory features in children with epilepsy diagnosed as mitochondrial respiratory chain enzyme complexes (MRC) defects and to provide newly postulated etiology in various epileptic condition., We retrospectively reviewed clinical and laboratory features of 21 patients with epilepsy who showed defects in MRC activity, confirmed by biochemical assay from spectrophotometry in muscle tissue., 1) Mean age was 5.63[plusmn]3.49 years and sex ratio was 1:1.1. 2) Fourteen (66.7%) were MRC I deficiency, 5 (23.8%) of VI deficiency, 1 (4.8%) of II deficiency, and 1 case of combined deficiency of I and IV. 3) Four cases (19.0%) were classified as Leigh syndrome, 1 case (4.8%) each as MELAS and Alpers disease, but 15 cases (71.4%) were not clinically categorized for specific disease criteria. 4) Epileptic diagnoses included generalized seizure disorders in 7 cases (33.3%), partial seizure disorders in 4 cases (19.0%), Lennox-Gastaut syndrome in 6 cases (28.6%) and infantile spasm in 4 cases (19.0%). 5) Mean seizure onset age was 2.34[plusmn]2.20 years. 6) Brain MRI showed diffuse cortical atrophy in 15 (71.4%), basal ganglia signal changes in 8 (38.1%) and thalamus sinal changes in 6 cases (28.6%). 7) Positive rate for laboratory studies were: 90.5% in lactic acidosis, 72.2% in urine organic acid assay, 29.4% in serum amino acid assay, and 53.3% in MR spectroscopy. 8) Mitochondrial cocktail with coenzyme Q[sub]10[/sub] and multi-vitamin therapy showed clinical improvements in 71.4% of patients., MRC defect can be the important cause of epilepsy. Treatments with coenzyme and multi-vitamine have shown considerable benefits.,