Background. Idiopathic toe walking (ITW) in childhood is a benign age-dependent disorder of the normal walking formula.

Objective: neurological, catamnestic and electromyographic analysis of patients with ITW.

Materials and methods. The study group consisted of 59 patients aged 1 year 4 months to 15 years (mean age is 6.10 ± 3.54 years) with a predominance of males (76 %) and the onset of violations in the age of 4 years in 83 % of cases, a normal history and the absence of signs of organic neurological deficiency.

Results and conclusions. As a result of differential diagnosis cerebral palsy, spastic paraplegia, peripheral neuropathy, myopathy and other diseases as possible causes of ITW were excluded. A high proportion of comorbid disorders of the neurotic spectrum in patients with ITW was determined, so tranquilizing and anxiolytic therapy was indicated in half of the patients. Electromyography doesn’t revealed pathology of peripheral neuromotor apparatus. Follow-up monitoring for 2–6 years, showed complete spontaneous regression of violations of the pattern of the walk at 84.8 % of the patients of 7–8 years of life. The formation of contractures of the ankle joint in 5 patients required operative correction. The issues of therapeutic tactics (gypsuming, orthosis of feet, botulinum toxin therapy, physiotherapy) were discussed. The absence of evidence-based effect of therapeutic measures is confirmed.

The combination of autistic spectrum disorders (ASD) with epilepsy is one of the most common neuropsychiatric comorbidities, which occurs with a frequency of up to 46 %. Such a high frequency is explained by the similarity of the pathophysiological mechanisms of each of the nosologies development. The common basis for both epileptogenesis and the development of ASD is the anomalies of neural communication mediated by the inversion of neurotransmission. In the formation of the epilepsy–autism phenotype the most significant is impairment of the departments responsible for the verbal-mediated social functioning. Such disorders are manifested in the lag of mental functions development, as well as in the epileptiform activity forming and epileptic seizures triggering. The epilepsy – autism comorbid phenotype core is represented by forms with an established genetic defect associated with structural pathology of the CNS. However, other ways of forming such a phenotype are also possible. Thus, in the epileptic or epileptiform encephalopathies picture there are often symptoms of ASD called an acquired epileptic neuropsychological syndrome. On the other hand, ASD (or the pervasive developmental disorder semiotics) may develop against the epileptiform changes background. In such cases, autistic epileptiform (in case of clinical seizures–epileptic) regression is diagnosed. Our concept of the epilepsy–autism phenotype forming is based on a detailed comparison of the etiology and pathogenesis of epilepsy and ASD. It is presented in the original cyclic sequence form. The variability of the epilepsy–autism phenotype is also presented in the form of the diagram explaining the perspective of each of the nosologies relationship.

Background. The conception of febrile status epilepticus includes many syndromes with seizures of different etiologies (fever, infection, autoimmune processes, etc.). Generally developing seizures have a severe course and are difficult to treat.

Objective: to classify patients with febrile status epilepticus and study their long-term prognosis.

Materials and methods. The study included 10 patients (children and adolescents), hospitalized in the intensive care unit, whose epileptic status were associated with a fever.

Results. In the analysis of the patients, who were included in the study, 4 subgroups can be distinguished: 1) a short-term period of convulsion against the background of metabolic decompensation caused by a main disease (with a conditionally favorable prognosis for seizures); 2) seizures as a manifestation of organic brain damage or infectious diseases with a serious prognosis of neurological development and seizures; 3) the onset of seizures against the background of fever (absence of any other causes of seizures); the prognosis of getting rid of seizures is variable, long follow-up monitoring is necessary, probably for many years; 4) true febrile infection-related epilepsy syndrome (in our study 1 patient had its classical form, and 1 patient had its less typical form (the onset of the disease at 18 years old – not at school age)).

Conclusions. Obtained data illustrate the whole severity of febrile status epilepticus in children, according to follow-up observation, seizures persisted in at least 3 out of 10 patients (2 of them with febrile infection-related epilepsy syndrome), at least three patients had a serious infectious or organic brain pathology.

Febrile infection-related epilepsy syndrome (FIRES) is an exceedingly rare disorder that affects 1 in 1.000.000 children. However, we believe that FIRES is more common, since many cases remain undiagnosed. The exact pathogenesis of this clinical syndrome is still poorly understood. There are several theories of its development, including immune, genetic, and inflammatory-mediated ones. FIRES is known to have dismal outcomes with a death rate of up to 30 % in the acute phase and subsequent development (often immediately after the acute phase) of refractory epilepsy and mental retardation in 66–100 % of survivors. Despite the increasing number of publications, the problems of timely diagnosis and treatment of such patients have not yet been addressed. We describe 6 patients presumed to have had FIRES. The most common outcomes included drug-resistant epilepsy, as well as cognitive and behavioral disorders. Continuing seizures and epileptiform activity on the electroencephalogram trigger cognitive and behavioral disorders. The analysis of treatment outcomes indicates that combinations of carbamazepine / oxcarbazepine with other antiepileptic drugs are most effective.

Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggravation of parkinsonism and develop complications, such as torsion dystonia. We analyzed medical records of 5 female patients aged between 2.5 and 6 years. There were no family relationships between patients’ families. All children had problems with their motor skills: 4 out of 5 patients could only crawl; none of them could walk independently. We also observed severe speech disorders in these patients: they had no expressive speech along with reduced understanding of speech. Their behavior was characterized by contact disorders and multiple stereotypies. All children had no self-service skills. The assessment of neurological status demonstrated uniform symmetrical paresis (score 3–4; 100 % of cases), increased muscle tone of the extrapyramidal type (40 % of cases), and diffuse muscle hypotension with ataxia (40 % of cases). One patient (with autistic-like behavior) had no motor disorders. Magnetic resonance imaging showed non-specific changes in 100 % of cases (diffuse cortical / subcortical atrophy, secondary hydrocephalus ex vacuo). One patient was found to have hypointense signal in the substantia nigra and globus pallidus on follow-up T2‑weighted magnetic resonance images obtained at the age of 6 years. All patients presented with epilepsy: West syndrome (n = 1), Lennox–Gastaut syndrome (n = 1), focal epilepsy with asymmetric tonic seizures (n = 1), and focal epilepsy with febrile generalized tonic-clonic seizures (n = 2). Remission for more than 1 year was achieved in 4 out of 5 patients. The following electroencephalographic patterns were identified before treatment initiation: hypsarrhythmia with transformation into epilepsy with a pattern of continued spike-and-wave activity during sleep (n = 1), multi-regional epileptiform activity with a tendency to diffuse spread and predominance in the frontal region (n = 3), and regional epileptiform activity in the frontocentral area (n = 1). The initial therapy with first-line drugs was highly effective and ensured remission in 3 patients; one patient had remission in response to hormone therapy; one patient continued to have seizures despite polytherapy with antiepileptic drugs. Interictal epileptiform activity was completely blocked by treatment in 2 cases; the rest of the patients had transformation of epilepsy into benign epileptiform discharges of childhood (n = 3).

The article deals with the history of creation and the first years of the functioning of the Department of Nervous Diseases of the Dagestan Medical Institute. There is a huge contribution of Professor Mikhail Sergeyevich Dobrokhotov to the development of the psycho-neurological service of Dagestan. Particular emphasis is placed on the research work of the staff of the department conducted in the conditions of shortage of laboratory and medical equipment.