Landau–Kleffner syndrome (LKS) is a disease from the group of age-dependent epileptic encephalopathies with the phenomenon of prolonged spike–wave activity in slow-wave sleep, which is manifested by acquired sensorimotor aphasia, impaired higher mental functions concurrent with various epileptic seizures and diffuse electroencephalographic (EEG) epileptiform changes in the absence of cerebral structural changes. In 1957, W. M. Landau, a pediatric neurologist, and F. R. Kleffner, a logopedist, first described the clinical presentation of the disease in 6 patients. The author associated the occurrence of aphasia with epileptiform EEG activity rather than with epileptic seizures, i. e. they per se formulated the modern concept of epileptic encephalopathy. There has been currently evidence that prolonged diffuse epileptiform activity has a damaging effect on a child’s developing brain, which is seen in impairments of speech and other higher mental functions. The age of patients with manifestations of LKS (3–5 years) is a critical period for the development of speech function. According to the concept of H. Doose (2003), congenital brain maturation disorder underlies LKS. The paper considers ideas on the origin of the LKS, including the possible genetic bases of diseases, epidemiological aspects, clinical and EEG manifestations with a detailed description ictal and interictal EEG changes, and treatment approaches, including the author’s data. The disease is characterized by an electroclinical triad: seizures (may be absent or may be single in a history), impaired higher mental functions (with a predominance of aphasic disorders), epileptiform EEG activity (a combination of regional and diffuse patterns with an increase during sleep).

Objective: to provide the comparative characteristics of neurological impairments in infants born in the I and II obstetric positions and to follow them up in the neonatal period.

Subjects and methods. A total of 133 infants born by vaginal delivery at 38–41 weeks» gestation in 2014 to 2016 were followed up. All the examinees were divided into 2 groups: 1) 71 neonates born in the I obstetric position; 2) 62 babies born in the II position. Their clinical examination encompassed an analysis of the course of delivery, neurological examination of the newborn in the first hours of life with a subsequent follow-up evaluation at the time of his/her discharge from the maternity unit.

Results and discussion. The examined groups were comparatively analyzed in terms of a number of indicators. The data of objective neurological examination showed a significant difference in some symptoms: cephalohematoma and torticollis were more common in the group of infants born in the II position. Comparison of the frequency of neurological impairments at different follow-up stages (at birth and at discharge from the maternity unit) revealed their statistically significant reduction in both groups. However, the frequency of neurological symptoms among Group 1 infants (born in the I position) at their discharge from the maternity unit was significantly reduced (from 77.5 to 38.0 %; p < 0.001), and those in Group 2 infants (born in the II position) substantially unchanged (from 87.1 to 79.0 %; p = 0.125). The slight regression of neurological symptoms in Group 2 suggests that intranatal nervous system damage is more severe in the infants born in the II position.

Conclusion. To define the position of a fetus during labor is an important component in the prevention of intranatal injuries

The review provides information on the nature and the modern methods of diagnosis of vision organ disorders in patients with neurofibromatosis type I (NF-I). The review of available full text publications in foreign and Russian databases is carried out. Presented literature review indicates a high variability of vision organ disorders in NF-I in the clinical course (slowly progressive, stationary, and rapidly progressive), severity (from asymptomatic to severe disabling), and clinical forms. During the observation of patients (probands) with NF-I and their family members, a comprehensive examination, accompanied by widespread introduction into clinical practice of modern diagnostic methods, including dynamic control of asymptomatic members of family genealogy, is important. The multidisciplinary approach has great significance for diagnostics, treatment and dispensary observation of NF-I.

Childhood periodic syndromes are a group of functional states occurring at an early age, including in the first year of life, which are pre sently considered as equivalents or precursors for further migraine. Insufficient coverage of the problem in the Russian literature, the paroxysmal occurrence and periodic recurrence of these states are a frequent cause of readmissions, numerous, sometimes invasive studies, misdiagnoses, and, as a consequence, the use of aggressive, pathogenetically unsound therapy, which ultimately affects quality of life in a child. The review article highlights the basic issues of the epidemiology, etiology, pathogenesis, clinical manifestations of major forms of childhood periodic syndromes, as well as approaches to their diagnosis, treatment, and prediction. To familiarize a wide range of specialists, not only neurologists, with these conditions in children will, of course, reduce the overdiagnosis of various more serious diseases.

Showed a rare case of atypical forms of Rett syndrome in girl adolescent. The peculiarity of the disease was in the late manifestation of clinical symptoms (6 years old), when there was autistic behavior and regression in development, as well as rare stereotypical hand movements, with characteristic changes in the EEG as benign epileptiform patterns of childhood. In adolescence (12 years) there were episodes of hyperventilation and arrest breathing, deformation of the back, inappropriate laughter and screams. Was found mutation in the heterozygous state (s.674>G / N) in the gene MECP2 (exons 1–4) by the method of direct automatic sequencing.

Mitochondrial diseases in children are one of the most important interdisciplinary problems in modern pediatrics. The diseases of this group occur due to mutations in nuclear and/or mitochondrial DNA and are manifested by a brain, heart and skeletal muscle lesion (encephalocardiomyopathy). The authors describe a clinical case of NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome in a baby during the first year of life. Early onset in the presence of complete health, the polymorphism of clinical manifestations, such as a central nervous system lesion, muscle weakness, impaired psychomotor development, and seizures, aroused suspicion of the mitochondrial disease; however, the final diagnosis was established by molecular genetic testing. The m8993T>G mutation was found in the MT-ATP6 gene, which confirmed the mitochondrial disease NARP syndrome. The description of the clinical case of the mitochondrial disease in a baby during the first year of life is of real interest to neurologists and pediatricians. Signs, such as the appearance or worsening of initially existing developmental delay in the early period of life, addition of muscle hypotonia with a change in the reflex areas, loss of acquired skills, impaired vision and hearing, and the progressive nature of the disease, may be indicative of the mitochondrial disease and the need to exclude diseases of this group by specific studies, including molecular genetic testing.