[Efficacy and safety of topiramate depending on patient's age and forms of epilepsy].

Seven hundreds and twenty-two epileptic patients receiving topiramate (374 males, 348 females), aged from 3 month to 57 years, were followed with video-EEG control during the period of 2002-2012. Topiramate was effective in 465 (64.4%) patients, and among them the efficacy of monotherapy (72.2%) was higher compared to combined therapy (61.9%). The low efficacy was seen in 198 (27.4%) patients. The aggravation effect was noted in 59 (8.2%) of patients. Drug compliance (for >1 year) was 60.7%. In the group <1 year, the high efficacy was observed in 55.2%, low efficacy - in 34.5%, aggravation - in 10.3%. In the group 1-3 years, these indicators were 54.8%, 31.8% and 13.4%, respectively. In the pediatric population (>3 years), they were 67.3%, 26.2% and 6.5% as well as in the adult population (>18 years) - 82.1%, 16.6% and 1.3%, respectively. Thus, topiramate is a highly effective medication in the therapy of idiopathic generalized epilepsies without absences and in symptomatic/cryptogenic focal forms of epilepsy. The efficacy of topiramate raised with increasing of age while the aggravation risk decreased significantly.

[Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics].

Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (measuring lactate levels), MRI and molecular-genetic (polymerase chain reaction genotyping of 9 exons of the SURF1 gene) studies. The mean age of manifestation was 11,6 months. The main manifestations of SL were: delay of psychomotor development, diffuse muscle hypertonic, cerebellar syndrome, ophthalmoparesis, hypertrichosis. The disease had a progressive course with the loss of acquired skills. The blood lactate concentration was increased on average up to 3,1 mM/ml (from 1,9 to 5,1 mM/ml) compared to normal values (1,8 mM/ml). Brain MRI revealed the subcortical and cortical atrophy (80% of cases), symmetrical distinctly delineated hyperintense lesions on T2-weighted images (demyelization) in the basal ganglia and the brain stem (50%), as well as in the cerebellum (25%). Genotyping identified 7 different mutations. The most frequent (64,8%) was the deletion of 2 nucleotides (845delCT) in exon 8 that was in line with early data of Polish researchers thus indicating the Slavic origin of this mutation. Other mutations (574-575insCTGT, 311-321del10insAT and IVS8-1G>) were also frequent in the Russian population.

[Opsoclonus-myoclonus syndrome in children].

To study clinical peculiarities of parainfectious opsoclonus-myoclonus syndrome (OMS) in children and to elaborate approaches to its pharmacotherapeutic correction, 20 children, including 12 girls and 8 boys, have been examined using neurological, neurophysiological, immunological and virological methods along with magnetic resonance tomography (MRT). Age-at-disease-onset was from 8 months to 3 years old. The development of neurological symptoms was related to a virus infection (55% of cases) or vaccination (15%). Marked disease seasonality (autumn, spring) was observed. In some cases, a possible role of infectious factor in the disease development was confirmed by virological and immunological studies. OMS was featured by the absence of specific brain MRT changes and low frequency of significant abnormalities of cerebrospinal fluid. A positive experience of the use of hormonal therapy and immunomodulators is presented.