[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.

[Neuropathy in n-hexane poisoning]. / Neiropatiya pri otravlenii n-geksanom.

N-Hexane is a solvent widely used in manufacturing as a cleaner, degreaser and component of rubber cement. Chronic exposure to n-hexane either through contact with unprotected skin or inhalation can lead to the development of clinical symptoms and electrophysiological changes similar to those of inflammatory demyelinating polyneuropathy which requires careful differential diagnosis. This article presents three cases of severe predominantly motor polyneuropathy with demyelinating features in 15- and 16-year-old adolescents. The results of laboratory tests were within normal limits; electroneuromyography revealed symmetrical involvement of sensory and motor fibers of the nerves of the legs and arms with a decrease in the speed of propagation of excitation and conduction blocks. Sural nerve biopsy revealed intraneural and perineural swelling without any signs of inflammation or fibrosis confirming the genesis of the neuropathy. Despite a relatively favorable prognosis there is no specific therapy for hexane poisoning and the recovery period can last up to several years.

[Guillain-Barre syndrome in children]. / Sindrom Giiena­Barre u detei.

Guillain-Barré syndrome (GBS) is an immune-mediated disease of the peripheral nervous system that can occur in both children and adults. The classic presentation of GBS is characterized by progressive symmetrical, ascending muscle weakness. Patients with GBS require meticulous monitoring due to the risk of bulbar syndrome, respiratory failure and autonomic dysfunction, which can be life-threatening. Early diagnosis and timely prescription of pathogenetic therapy for GBS are particularly important, especially in young children. Meanwhile, the spectrum of disorders covered by GBS has expanded significantly; its eponym is now designate any variant of acute dysimmune polyneuropathy, and its atypical forms pose a serious diagnostic problem for clinicians. This review article provides an analysis of the data available in the medical literature on GBS in children and discusses the tactics for diagnosing and managing patients with GBS, taking into account the Russian and European clinical recommendations.

[Methodological issues of cognitive impairment studies in pediatric multiple sclerosis patients]. / Metodologicheskie problemy issledovaniia kognitivnykh narushenii u detei i podrostkov s rasseiannym sklerozom.

The article provides a review of the characteristics of cognitive impairment in multiple sclerosis (MS) and methods for its assessment in children. The features of the most frequently used neuropsychological batteries, with consideration of specifics of cognitive impairment in MS, and data on assessment of a state of cognitive functions obtained using neuropsychological tests are presented. The authors also discuss the issue of a long-term impact of the disease on a state of cognitive functions. Clinical factors, which can lead to cognitive impairment (type of multiple sclerosis, age at manifestation, number of relapses), are described.

[Chronic dysimmune hypertrophic plexopathy as a variant of atypical chronic inflammatory demyelinating polyneuropathy]. / Khronicheskaia dizimmunnaia gipertroficheskaia pleksopatiia kak variant atipichnoi khronicheskoi vospalitel'noi demieliniziruiushchei polineiropatii.

The authors report the clinical case of a 7-year-old child with gradual development in left leg weakness considering by the neurologist as the unknown lesion of the sciatic nerve. According to the results of clinical and instrumental examinations, the diagnosis was established as a focal form of chronic inflammatory demyelinating polyneuropathy (CIDP). The dysimmune cause of the disease was confirmed by MRI of the lumbosacral plexus with contrast enhancement of neural structures and response to therapy with high-dose intravenous immunoglobulin in combination with corticosteroids.

[Psychological development of children with opsoclonus myoclonus syndrome and its correlation with age and disease onset]. / Psikhicheskoe razvitie detei s opsoklonus-mioklonus-sindromom s uchetom razlichii v vozraste, vremeni debiuta i sroka techeniia zabolevaniia.

Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder with unknown etiology and pathogenesis. There is not enough knowledge about psychological development of children with OMS. AIM: To study an influence of the time of disease onset and children's age and type of disease course on psychological development of children with OMS. MATERIAL AND METHODS: The study included 26 children with OMS of age between 1 year 7 months and 13 years, 10 boys and 16 girls. The following methods were used: analysis of patient's development records, psychological interview with parents, assessment of emotional, behavioral, motion state and interpersonal relations. RESULTS AND CONCLUSION: The disease onset at the early stage of ontogenesis (before 3 years) results into severe psychological disorders. Patients at the age between 3 and 5 years demonstrate the maximal number of developmental delays with possibilities of compensation. The article discusses a possible role of psychotraumatic and psychosocial factors in psychological disorders in children with OMS. The influence of age should be taken into account in planning of treatment and rehabilitation and evaluation of disease prognosis.

[Human prion diseases: current issues]. / Prionnye zabolevaniia cheloveka: sovremennye aspekty.

Prion diseases, or transmissible spongiform encephalopathies, are a group of neurodegenerative diseases with progressive dementia and movement disorders. There are three variants of prion diseases pathogenesis: direct contamination, genetic and sporadic forms. The following clinical forms are known: Creutzfeldt-Jakob disease (common type), variant Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, variably protease-sensitive prionopathy, fatal insomnia and fatal familial insomnia, kuru, prion disease associated with diarrhea and autonomic neuropathy. Clinical characteristic of prion diseases, molecular-genetic aspects of their pathogenesis and current diagnostic approaches are discussed. Because of the lack of effective treatment, prevention of both alimentary prion infections (consumption of contaminated meat products) and transmissible iatrogenic infections (the use of biopreparations from animal tissues) is important. The safety of such biopreparations should be ensured by modern manufacturing technologies and specially developed procedures that meet international requirements and standards.

[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.

Autologous hematopoietic stem cell transplantation for pediatric multiple sclerosis: a registry-based study of the Autoimmune Diseases Working Party (ADWP) and Pediatric Diseases Working Party (PDWP) of the European Society for Blood and Marrow Transplantation (EBMT).

Autologous hematopoietic stem cell transplantation (aHSCT) is a promising therapy for multiple sclerosis (MS), which has mainly been used in adults. The purpose of this study was to investigate efficacy and adverse events of aHSCT in the treatment of children with MS using data from the European Society for Blood and Marrow Transplantation registry. Twenty-one patients with a median follow-up time of 2.8 years could be identified. PFS at 3 years was 100%, 16 patients improved in expanded disability status scale score and only 2 patients experienced a clinical relapse. The procedure was generally well tolerated and only two instances of severe transplant-related toxicity were recorded. There was no treatment-related mortality, although one patient needed intensive care. aHSCT may be a therapeutic option for children with disease that does not respond to standard care.

[Intravenous immunoglobulin in treatment of autoimmune neurological diseases in children].

Though the mechanisms of action of intravenous immunoglobulins (IVIG) are not completely understood, these drugs are widely used in treatment of autoimmune diseases. In this review, we have analyzed the literature on the use of IVIG in the treatment of autoimmune diseases of the nervous system in children and discuss the management of patients basing on the recommendation of the European Federation of Neurological Societies. The efficacy of IVIG in children has been shown as first line treatment in Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, dermatomyositis as a second-line drug in the combination with prednisolone or immunosuppressors in patients refractory to treatment with corticosteroids and cytostatics, myasthenic crisis in myasthenia gravis, exacerbations and short-term treatment of severe forms, non-responsiveness to acetylcholinesterase inhibitors, multiple sclerosis as second or third line of treatment in patients with relapsing-remitting course with intolerance to standard immunomodulatory therapy, acute multiple encephalomyelitis with no response to the treatment with high doses of corticosteroids, paraneoplastic syndromes, pharmacoresistant epilepsy and autoimmune encephalitis. Because the right choice of the drug plays a key role, in particular, in children, that determines the efficacy and safety of the treatment, we present the main approaches to the choice of the drug and schemes of treatment of autoimmune diseases of the nervous system in children.

[Cognitive disorders in adolescents with multiple sclerosis: problem and methods].

A possible approach to evaluation of mild cognitive deficits in patients with multiple sclerosis (MS) is provided in the article. The results of the approbation of authors' experimental technique for studying cross-modal interactions that was carried out in healthy adolescents and MS patients are presented. Perspectives of its using in further research and some preliminary data on deficits in cross-modal syntheses in adolescents with MS are discussed. The role of impairment of interactions between different cognitive functions in the development of cognitive deficit is emphasized.

[Development of cognitive functions in children with multiple sclerosis: criteria for assessment of current state and prognosis of further development].

The results of neuropsychological and clinical examination of 29 children and adolescents with multiple sclerosis were analyzed. Specifics of cognitive development of patients at the early onset of disease and association between neuropsychological and MRI data as well as peculiarities of disease course were found. The authors emphasized the possibility of using neuropsychological diagnostics in the early stage of disease for prognostic purposes and assessment of treatment efficacy.

[Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)].

A history of the discovery, hypotheses of the pathogenesis, neuromorphologic data, clinical appearances, differential diagnostics and an own description of a single case of rare hereditary children leukoencephalopathy, with megalencephaly, changes of myelin structure and formation of subcortical cysts are presented. Taking into account non-specific clinical appearances of this disease and difficulties of genetic analysis, a priority role of MRI-diagnostics revealing typical signs of the disease is emphasized.

[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.

[Cognitive disturbances in multiple sclerosis].

Results of the study of cognitive functions in children with multiple sclerosis (MS), including literature data on cognitive disturbances in this disease, are presented. Fourteen patients, aged from 8 to 17 years, with definite MS have been studied. A neuropsychological study revealed impulsivity in the performance of tasks without the sufficient orientation on the test instruction; difficulties in the visual perception in conditions of different complexity and difficulties of the simultaneous synthesis; elements of the left-side ignoring, difficulties in understanding, the usage of logical grammatical construction, activity programming and the rhythm perception. These peculiarities are interpreted in the context of A.R. Luria conceptions on the marked impairment of the functional activity of the right hemisphere, reduction of an operational constituent of mental processes related to the activity of the second functional block in the brain (parietal, occipital and temporal areas); decrease of regulatory aspects of the activity related to the activity of the third structural-functional block, which included the convexital frontal cortex with all the cortical and subcortical connections; reduction of the activating provision of mental processes related to the work of the first structural-functional block (deep, subcortical brain structures and their connections). It is emphasized that cognitive disturbances in children may appear on the earlier stages of MS.

[Nerve tissue-specific proteins in the assessment of the permeability of the hemato-encephalic barrier in comatose states in children]. / Spetsificheskie belki nervnoi tkani v otsenke pronitsaemosti gematoéntsefalicheskogo bar'era pri komatoznykh sostoianiiakh u detei.

The role of functional state of hematoencephalic barrier (HEB) was estimated in terms of development of pathological process in coma. The quantitative determination of neurospecific protein (NSP), exactly of alpha 1 and of alpha 2 cerebral globulins (produced by astrocytes and oligodendroglial cells) was used for estimation of HEB state. The clinical examination of 138 children in comatose state caused by different factor (meningitis, encephalitis, cerebrocranial trauma, infectious toxicosis) was performed. Enzyme immuno-assay of alpha 1 and of alpha 2 cerebral globulins allowed to control HEB's functional state objectively in "brain-blood" direction: in cases of alteration of HEB's function the autoantibodies to NSP may penetrate into cerebral tissue and cause nonspecific reaction in form of edema or inflammation. The membrane stabilizing effect of Dexamethazone was established.