leigh syndrome: clinical and paraclinical study

during two years study about mitochondrial disease (sep 1999-agu 2001), 15 cases of leigh syndrome (ls) were diagnosed, that consisted of 11 boys and 4 girls aged between 6 to 156 (mean: 40.5) months. most of the patients (46.7%) became symptomatic between 1-5 years of age. triggering factors were reported in 66.6% of the patients and 40% of them became symptomatic after infections. the most frequent presenting symptoms of the patients were somnolence and lethargy (40%), developmental regression (20%) and seizure (13.3%). the most common neurologic findings were developmental regression or arrest (93.3%), seizure (93.3%) abnormal tone (86.7%) and abnormal movements (53.3%). blood lactate increased in 93.3% and blood ammonia elevated in 26.7% of the cases. symmetric striatal necrosis (100%) and caudate nucleus involvement (73.3%) were the most frequent neuroimaging findings of the patients.