[Modern aspects of diagnosis and treatment of chronic inflammatory demyelinating polyneuropathy in children]. / Sovremennye aspekty diagnostiki i lecheniya khronicheskoi vospalitel'noi demieliniziruyushchei polineiropatii u detei.

OBJECTIVE: Analysis of demographic, clinical, laboratory, electrophysiological and neuroimaging data and pathogenetic therapy of pediatric patients with chronic inflammatory demyelinating polyneuropathy (CIDP). MATERIAL AND METHODS: Patients (n=30) were observed in a separate structural unit of the Russian Children's Clinical Hospital of the Russian National Research Medical University named after. N.I. Pirogova Ministry of Health of the Russian Federation in the period from 2006 to 2023. The examination was carried out in accordance with the recommendations of the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society on the Management of CIDP (2021). All patients received immunotherapy, including intravenous immunoglobulin (IVIG) (n=1), IVIG and glucocorticosteroids (GCS) (n=17, 56.7%), IVIG+GCS+plasmapheresis (n=12, 40.0%). Alternative therapy included cyclophosphamide (n=1), cyclophosphamide followed by mycophenolate mofetil (n=1), rituximab (n=2, 6.6%), azathioprine (n=3), mycophenolate mofetil (n=2, 6.6%). RESULTS: In all patients, there was a significant difference between scores on the MRCss and INCAT functional scales before and after treatment. At the moment, 11/30 (36.6%) patients are in clinical remission and are not receiving pathogenetic therapy. The median duration of remission is 48 months (30-84). The longest remission (84 months) was observed in a patient with the onset of CIDP at the age of 1 year 7 months. CONCLUSION: Early diagnosis of CIDP is important, since the disease is potentially curable; early administration of pathogenetic therapy provides a long-term favorable prognosis.

[Peptidergic nootropic therapy in cerebral palsy associated with epilepsy]. / Peptidergicheskaia nootropnaia terapiia pri detskom tserebral'nom paraliche v sochetanii s épilepsiei.

AIM: To assess the efficacy and safety of сortexin in the treatment of children with cerebral palsy (CP) combined with epilepsy. MATERIAL AND METHODS: Eighty-four patients (55 boys and 29 girls), aged from 1 to 11 years, with CP combined with epilepsy received cortexin together with antiepileptic drugs (AEDs). Cortexin was administered in doses of 5-10 mg depending on the patient's age and body weight intramuscularly during hospitalization. RESULTS AND CONCLUSION: Cortexin as add-on to AEDs reduced for more than two times the number of seizures, along with improvement of motor function, in 31 (36.9%) patients. The improvement of motor function, but without a significant decrease in epileptic seizures, was achieved in 15 (17.8%) of the patients. Reduction of epileptic seizures frequency (>2 times), but without a significant effect on motor function, was observed in 14 cases (16.7%). Twenty-three patients (27.4%) did not respond the therapy. The aggravation of epileptic seizures during cortexin therapy was observed in only 1 girl with West syndrome (1.2%), and this was significantly lower than the probability of seizures aggravation on AED. Polypeptide nootropic medication cortexin demonstrated efficacy and safety as adjunctive therapy in children with CP combined with epilepsy.

[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.

[Rasmussen's chronic progressive focal encephalitis]. / Khronicheskii progressiruiushchii ochagovyi éntsefalit Rasmussena.

Chronic progressive focal encephalitis or Rasmussen encephalitis (RE) is chronic brain disease of viral etiology. It is manifested by either partial motor or myoclonic seizures combined with hemiparesis. RE was described in detail in a girl of 8.5 years. The disease debut was observed at the age of 5.5 and manifested in the form of simple partial motor fits with serial episodes of secondary generalization. Post-attack hemiparesis was observed from the age of 7.5 and became permanent after 8. From this time myoclonic fits became constant, changed for the worse, memory and attention deteriorated. NMR tomography revealed widening and deepening of the Sylvian fissure as well as a focal decrease of left temporal area density. The patient was resistant to anticonvulsant, hormonal and immunosuppressive drugs. The criteria of RE diagnosis, its difference from Kozhevnikov's epilepsy are provided. Estimation of drug and surgical treatment effectivity is given. The necessity of early surgical treatment (functional hemisphere ectomy) is emphasized.