Epileptic seizures in infants and children with mitochondrial diseases.

The purpose of this study is to describe the characteristics of epileptic seizures in infants and children with mitochondrial diseases. From 1984 to December 2010, data from 46 of 76 patients diagnosed as having mitochondrial diseases with epileptic seizures were reviewed. Age at seizure onset, epileptic phenotypes, electroencephalogram findings, magnetic resonance imaging features, and treatment outcome in patients with syndromic or nonsyndromic mitochondrial diseases were analyzed. Thirty (65%) of 46 patients manifested seizures before the age of 1 year; 43% had Leigh syndrome and 53% had nonsyndromic mitochondrial diseases. Twenty-eight (61%) of 46 patients exhibited seizures as the manifesting complaint. Nineteen (68%) of 28 patients had nonsyndromic mitochondrial diseases. The most frequently observed electroencephalogram finding was background slow activity (28/46; 61%) in both groups. The most common cortical abnormality relevant to clinical seizures was diffuse brain atrophy on the brain magnetic resonance imaging (26/45; 58%), which was commonly observed in patients with nonsyndromic mitochondrial diseases (16/26; 62%). Despite treatment, 49% of patients experienced less than 50% seizure reduction rate, 77% of whom had nonsyndromic mitochondrial diseases. Leigh syndrome and nonsyndromic mitochondrial diseases often manifest as infantile seizures. Epileptic seizure as the initial complaint, diffuse brain atrophy, and refractory epilepsy were more common in patients with nonsyndromic mitochondrial diseases.