Juvenile myoclonic epilepsy (JME) is an inherited genetic syndrome within the group of idiopathic generalized epilepsies (IGE). The disease is characterized by an adolescence-onset with massive myoclonic seizures often combined with generalized convulsive seizures and absence seizures and by typical changes in the electroencephalogram appearing as short generalized polyspike-and-wave epileptiform discharges with a frequency of 3–6 Hz. Despite the high rate of remission (75–85 %) in patients receiving adequate therapy, this form of epilepsy brings more significant inconveniences for patients than many other forms of IGE. Such factors as violation of sleep hygiene, missing the doses of antiepileptic drugs (AED) or discontinuing the therapy cause recurrence of seizures in the vast majority of patients with JME, even in those with long-term remission. Due to the high recurrence rate in patients with JME, the treatment is usually lengthy; thus, the issues of its efficacy and tolerability, as well as the choice of starting therapy are particularly important in the case of JME. The impact of AED on the reproductive functions in women is a subject of major concern, since the active period of the disease and antiepileptic therapy covers the adult (and often adolescent) age.

Valproic acid was widely used for treatment of JME, but now this drug is prescribed less frequently (especially in girls and women) due to the possible negative impact on reproductive function and its teratogenic effect. So, choosing an alternative drug with high efficacy and tolerability is crucial for patients with JME. The authors present their own experience of JME treatment with topiramate. Our results suggest that topiramate is a highly effective well-tolerated drug that can be used for JME therapy without a significant impact on the reproductive functions in female patients. 

Background. The term «intraventricular hemorrhage of the newborn» was first introduced in the Soviet Union in 1970s. In the first soviet guidelines on pediatric neurology, the intraventricular hemorrhage (IVH) was considered as a complication after birth injury induced by a mechanical trauma to the fetal head due to the choroidal vascular plexus. The first large-scale studies devoted to IVH in children were conducted in the USA in the 1970s after the introduction of ultrasound examination of brain, which is the main instrumental method for IVH diagnostics. In 1978, the specialists manage to explore the germinal matrix of the brain in the fetus and newborn, which is believed to be the main source of IVH in premature newborns. This structure was shown to give rise to brain neuroblasts and glia: this is a capillary-rich area that consists of poorly differentiated randomly arranged cells, and has a soft connective-tissue carcass that can cause IVH in this area in newborns. According to a currently accepted approach, risk factors for IVH are divided into 3 pathogenetic groups: antenatal, intranatal and postnatal. Among the antenatal risk factors, the main role belongs to the prenatal infection, especially viral infection. Besides, mother comorbidities (first of all cardiovascular and endocrine diseases) and pathological pregnancy (threatened abortion, severe gestosis and placental insufficiency) are also considered as important predictors of IVH. The internatal risk factors include placental detachment, precipitate labor, disseminated intravascular coagulation syndrome in mother etc. In this article the authors present a detailed review of currently available data as well as the results of own studies.

Objective: to provide an overview of the stages of the IVH investigation, to identify the main features of the IVH etiopathogenesis comparing to other perinatal disorders of the central nervous system, and to assess the consequences of IVH.

Materials and methods. The study was based on the results of clinical and pathogenetic investigations of 182 children who underwent rehabilitation in the specialized center for children with nervous system disorders (Astana, Republic of Kazakhstan).

Results. In contrast to non-IVH perinatal disorders, the IVH is mostly observed in the premature newborns (63.1 % of cases) with less than 34 weeks of gestational age (22.3 % of cases). The IVH may lead to serious consequences including decreased rehabilitation potential in terms of both anatomical abnormalities and cognitive and speech disorders.

Conclusion. We have identified the main features of IVH etiopathogenesis in children, compared them with the features of other perinatal disorders, and evaluated their consequences. 

Background. Early detection of epileptiform activity on the electroencephalogram (EEG) and preventive antiepileptic therapy in patients with tuberous sclerosis (TS) help to avoid the development of severe forms of epilepsy as well as cognitive disorders associated with it.

Materials and methods. Seventeen patients with TS underwent preventive antiepileptic treatment in the Research and Clinical Institute for Pediatrics named after Y.E Vel’tishev. All patients were diagnosed with TS during their first months of life. The diagnosed was based on the detection of cardiac rhabdomyomas and hypopigmentation spots and then confirmed by a genetic test. Antiepileptic drugs (AED) (vigabatrin in 7 patients, valproic acid in 7 patients and levetiracetam in 2 patients) were administered after detection of epileptiform activity in the routine EEG (EEG was performed monthly).

Results. Preventive therapy with valproic acid and levetiracetam was found to be ineffective: 4 out of 7 patients on valproic acid and 1 out of 2 patients on levetiracetam developed epilepsy. All of them were later diagnosed with delayed psychological development and delayed speech development. Among 7 patients receiving vigabatrin, only 1 patient developed epilepsy, but did not have any developmental disorders later.

Conclusion. Despite vigabatrin is not registered in the Russian Federation, it should be used as an agent for preventive antiepileptic therapy in patients with TS. This approach ensures more favorable long-term results in terms of cognitive functions and psychological development, thus, providing a better quality of life. 

Background. Sleep is an important part of a healthy lifestyle, affecting all aspects of human life. Formation of the sleep–wake regime is associated with other physiological processes in the human body. Sleep disorders can lead to the development of various physical and psychological disorders. In schoolchildren and students sleep disorders can lead to memory loss, increase in anxiety and fatigue. Taken together, these factors can lead to lower performance. A variety of internal and external factors can lead to disruption of sleep: stress, much physical and emotional strain, artificial light in the streets, excessive activity of a person during the night (night work, homework etc.). Schoolchildren, living in rural areas, also suffer from sleep disorders. Most of the schoolchildren of countryside are not satisfied with the quality of nocturnal sleep, sleep at least 8 hours a day and notice daytime sleepiness.

Objective: to estimate derangements of circadian rhythms of a sleep at schoolchildren of the senior classes, living in countryside.

Materials and methods. 67 questionnaires of schoolchildren of the 10th grades of schools of the Abansky District of the Krasnoyarsk Region were analyzed. To estimate the daytime sleepiness, duration and quality of sleep there were used the Child Sleep Questionnaire and the Epworth Sleepiness Scale.

Results. A derangements of nocturnal sleep were registered in 52 % of schoolchildren of the 10th grades.

Conclusion. Identified sleep disorders in schoolchildren can cause serious damage to their health and cause the development of a serious disorders in the future. 

Posterior reversible encephalopathy syndrome (PRES) is an acute and usually reversible condition characterized by a rapid onset, convulsive syndrome, impaired consciousness, headache, visual impairment, nausea or vomiting, transient focal neurological signs, and arterial hypertension. Patients with PRES have changes in the white matter of the brain detected using magnetic resonance imaging; these changes are predominantly located in the occipital-temporal-parietal area. Increased blood pressure and severe metabolic disorders are the risk factors for PRES. Most of the patients have generalized tonic-clonic or focal seizures and epileptiform activity on the electroencephalogram during the acute period of PRES, but they do not develop epilepsy after this episode.

The neurotoxicity of general anesthetic drugs still appears as a relevant interdisciplinary problem. All general anesthetics that are currently in use exhibit a neurotoxic effect on the brain at all stages of its development. It is impossible to evaluate the negative impact of general anesthetics without considering the effect of surgical injury, intraoperative complications, pain syndrome, main and concomitant diseases. We report a case of hypoxic brain injury in the early postoperative period in a child with severe comorbidities and perinatal complications in anamnesis.

Neurofibromatosis type 1 (NF-1) is a hereditary disease mainly affecting skin and peripheral nervous system. Individual signs of cutaneous manifestations of NF-1 can imitate or be combined with other neurocutaneous syndromes. At present on the outpatient phase is not always possible to conduct a detailed examination of the patients with NF-1 and to determine the indications for modern diagnostic examination in a specialized hospital. It can be important to verify the diagnosis. The authors presented short review of russian and foreign literature and clinical case of the patient with a specific lesion of the skin against the background of congenital giant melanocytic nevus. Problems of differential diagnosis of NF-1 and congenital giant pigmented nevus were analyzed.