Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by a combination of the following signs: 1) facial dysmorphism (wide nose, broad medial eyebrows, pronounced chin, and open mouth); 2) mental retardation; 3) abnormalities of internal organs (congenital heart defects, Hirschsprung's disease, hypospadias/cryptorchidism). The disease is associated with a heterozygous pathogenic mutation in the ZEB2 gene. More than 80 % of MWS patients are diagnosed with epilepsy, the onset of which is usually observed in infancy. Patents have focal motor seizures, atypical absence seizures, generalized convulsive seizures. Epileptic seizures are often triggered by fever; some children are resistant to therapy. MWS patients have a specific phenotype (blue eyes, fair hair, wide-based gait, frequent laughter, limited or absent expressive language) that requires differential diagnosis with Angelman syndrome (caused by a mutation in the UBE3A gene). MWS was described in 1998, but there have been no case reports in the Russian literature yet. We report 4 cases of MWS in children aged 2 to 13 years treated in the Svt. Luka's Institute of Neurology and Epilepsy. In all of these patients, we identified a heterozygous de novo deletion in the ZEB2 gene. Epilepsy was observed in all patients. Mean age at onset was 13 months. All children had focal motor seizures and atypical absence seizures. None of them had tonic-clonic seizures or status epilepticus. The analysis of electroencephalograms showed that patients with a lower index of epileptiform activity tend to have better development and vice versa: children with a high index of epileptiform activity during sleep had more severe developmental delay.

Background. As the amount of knowledge about multiple sclerosis increases, there is an interest in other forms of demyelinating diseases, among which neuromyelitis optica spectrum disorder and MOG (myelin oligodendrocyte glycoprotein) antibody disease can be distinguished.
Objective: to improve the efficiency of diagnosis and treatment, to assess the long-term outcome in patients with AQP-4-positive neuromyelitis optica and MOG antibody disease.
Materials and methods. The study included 14 patients: children, adolescents, adults, and elderly (9 - female, 5 -male). The duration of catamnesis ranged from 1 year to 6 years.
Results and discussion. Antibodies to AQP-4 were found in 5 patients, antibodies to MOG were found in 9 patients. 89 % of patients with MOG antibody disease had the number of antibodies to MOG less than 50 pg/ml, determined by the Sandwich-type ELISA method; therefore, multiple sclerosis cannot be excluded (considering the oligoclonal IgG type 2 in three patients). To clarify the diagnosis, antibodies to MOG must be tested by more specific method of live cell-based assay in these patients.
Based on this group of patients, it can be assumed that the younger the patient was, the earlier the diagnosis was made and treatment started, the better was prognosis. The prognosis was more favorable in patients with AQP-4-positive neuromyelitis in whom the disease debuted with optic neuritis. Patients with MOG antibody disease had a more favorable prognosis if the disease debuted with a supratentorial brain lesion; less favorable - when oligoclonal IgG type 2 was detected. Gender had no influence on the outcome of the disease.
Conclusion. Differential diagnosis of this diseases based on clinical data is practically impossible. The study was carried out in a small group, so it is difficult to translate the results to the population of patients with neuromyelitis optica spectrum disorders. During treatment, almost all patients show positive dynamics when using glucocorticosteroids, human immunoglobulin preparations. Plasmapheresis was ineffective in patients with AQP-4-positive neuromyelitis optica, in some patients with MOG antibody disease the positive effect was observed. Cytostatic therapy was effective in patients with AQP-4-positive neuromyelitis optica. B cell depletion therapy with rituximab was effective in patients with MOG antibody disease. Interferon preparations did not give a positive effect.

In this work, we have analyzed the results of observation of 200 children aged from 3 to 15 years old, who had various neuropsychiatric disorders in combination with benign childhood epileptiform patterns on the electroencephalogram. A hypothesis has been put forward about functional disorders of the developing nervous system with prolonged persistence of benign focal epileptiform discharge of childhood on electroencephalogram, mainly in slow-wave sleep. The possibilities of therapeutic correction of these disorders are discussed.

Background. The problem of preventing the development of gross congenital brain lesions and their successful treatment is more than relevant now. It is known that approximately in every third case of the development of congenital cerebral palsy (CP), it is impossible to identify the main pathogenetic factor. This determines the activity of the search for gene mechanisms for the formation of this phenotype. G. McMichael et al. were among the first to identify the most relevant directions of the influence of genes on the formation of the CP phenotype.
Objective: to study the influence of gene determinants on the formation of the phenotype of CP, which is not accompanied by epilepsy.
Materials and methods. Gene abnormalities in 18 patients with CP were divided into groups of determinable physiological processes. Genetic mutations were confirmed by next generation sequencing (NGS) and Sanger trio methods. For the study, samples of the patients' venous blood were taken.
Results and discussion. The analysis showed that genes from different groups by determinants are to varying degrees associated with the formation of the CP phenotype. The “map of determinants” in the pathogenesis of CP is specific. The pathogenesis involves genetically determined disorders of cell division and neuroontogenesis (neuronal migration, sprouting, myelination, partly apoptosis), cell metabolism, including those whose disturbance leads to the formation of storage diseases, transmembrane transport, the exchange of neurotransmitters and the functioning of synapses, the formation of and the functioning of the cytoskeleton, as well as the regulation of immunity and oncogenesis. Malformations of the brain are more often associated with determinants of the regulation of the formation and functioning of the cytoskeleton, neuroontogenesis, as well as the processes of cell division (chromatin modification, transcription, replication). The pathogenesis of congenital cerebral palsy does not involve (according to our data) the determinants of canalopathy, energy supply of the cell, intracellular synthesis with the Golgi complex, and ribosomal synthesis.
Conclusions. Genetically determined CP is a universal phenotype that implements the multidirectional effect of the genome. The influence of the genome does not apply to the energy supply of the cell, ribosomal synthesis and the functioning of the Golgi complex. In the absence of epilepsy in the phenotype, there is no influence of the genes of canalopathies.

Background. There has been an increasing interest to the diagnostics of learning difficulties in primary school children, which is associated with scientific advances in the interdisciplinary paradigm and high prevalence of difficulties with writing among children. Long-term observations demonstrate the presence of neuropsychological disorders in children with reading and writing disorders, which, in our opinion, necessitates further investigation in the interdisciplinary clinical and pedagogical aspect.

Objective: to perform factor analysis of the mechanism underlying initial development of the disorder and its dynamics, to identify its types considering the development factor in the context of mastering the educational material.

Materials and methods. This study included 10 children of 2nd-5th forms who visited specialists for the first due to learning difficulties.

Results. We have identified several neuropsychological factors that caused problems with writing, including kinetic factor; factor of deliberate regulation of mental activity; modal-specific factors; kinesthetic factor; spatial factor; neurodynamic factor; simultaneous and successive factors; factor of interhemispheric interaction. The most common were the neurodynamic factor and the factor of interhemispheric interaction. We also observed signs of disorders in the deep parts of the brain, subcortical structures in the form of diffuse stem symptoms (in 2 cases, electroencephalography showed diffuse changes in the bioelectric activity of the brain with signs of irritation of the subcortical-diencephalic structures, in particular, synchronization of the main rhythm). We have identified a number of symptoms (primarily originating from the subcortex), such as general decrease in pace, problems with starting to work, rapid fatigue, decreasing productivity, an increase in the number of kinetic and auditory-speech difficulties, and spatial deficits.

Conclusion. The lack of specially organized management in children with neuropsychological syndrome reinforces reading and writing disorders and leads to aggravation and alteration of symptoms during learning. Understanding of neuropsychological mechanisms underlying reading and writing disorders and their course is crucial for differential diagnosis, therapy, and comprehensive correction.

De Vivo disease is characterized by early epileptic encephalopathy, delayed psychomotor development, spasticity, the formation of microcephaly, ataxia, dysarthria, alternating hemiplegia, and a decrease in glucose and lactate levels in the cerebrospinal fluid. Epilepsy is pharmacoresistant and the therapy for this syndrome is the ketogenic diet (until the time when will development of genetic targeted therapy). In GLUT1 deficiency syndrome, mutations are found in the SLC2A1 gene that lead to a decrease in glucose transport across the cell membrane.  The “classic” ketogenic diet is a special high-fat, low-carbohydrate diet that helps to control seizures in some people with epilepsy. It is prescribed by a physician and carefully monitored by a dietitian. It is usually used in children with seizures that do not respond to medications. It is stricter than the modified Atkins diet, requiring careful measurements of calories, fluids, and proteins. Foods are weighed and measured. Normal dietary fats, which are used predominantly in the classical ketogenic diet, consist of a mixture of mainly long chain triglyceride (LCT) fats with a small amount of short and medium chain triglyceride (MCT) fats. The MCT ketogenic diet uses a fat supplement that consists only of MCT fats (MCT oil).

Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we report a case VWM disease in a boy with white matter lesions, in whom early onset and neurological symptoms suggested infantile form of the disease. The diagnosis was confirmed by the detection of biallelic mutations c.1688G>A (p.Arg563Gln) and c.1309G>A (p.Val437Met) in the EIF2B5 gene. The c.1309G>A mutation (p.Val437Met) was detected for the first time; it caused the development of severe disease.

In this article we report a case of pericallosal lipoma in a newborn with fetal alcohol syndrome, brain malformation (agenesis of the corpus callosum), and intrauterine infection (meningitis) diagnosed in a perinatal center.