Background. Despite the existing variety of available methods for the treatment of drug-resistant epilepsy in children, there are still many patients that are not suitable for surgical treatment and have no response to alternative therapeutic measures (vagus nerve stimulation and ketogenic diet). In these patients, the problem of searching for new antiepileptic drugs is particularly urgent. The article presents original data on the efficacy and tolerability of perampanel in children with epilepsy.

Materials and methods. Our retrospective study included 55 children (33 males and 22 females) under the age of 18 that received perampanel. This study was performed without external sponsor support at the Svt. Luka’s Institute of Child Neurology and Epilepsy during 2015–2017.

Results. Perampanel demonstrated high efficiency against generalized (myoclonic and tonic) seizures and moderate efficiency against focal motor seizures. The drug was significantly less effective in patients with atypical absence seizures and ineffective in children with atonic seizures. Perampanel was generally well tolerated by the majority of patients. The most frequent adverse effects that required the drug to be withdrawn (9 out of 55 cases, 16.4 %) were psychic exhaustion and apathy. Less frequent side effects that lead to perampanel cessation included aggravation (4 %), psychotic episode (2 %) and idiosyncrasy (2 %). Such transient states as ataxia (21 %), decreased appetite (13 %) and muscle rela xation (24.5 %) did not require perampanel withdrawal. Our results suggest that the efficacy of perampanel is 58.5 %. Currently, 37.8 % of patients continue receiving the drug, whereas in 20.7 % of children it was withdrawn due to adverse reactions, despite its high efficacy against seizures. In 41.5 % of patients, we observed neither positive effect nor adverse reactions. 

Conclusions. Further studies on perampanel in children under 12 years old are needed, since our results suggest its efficiency for drug-resistant epilepsy. 

Background. Epilepsy remains one of the most stigmatized diseases; patients still experience multiple problems with education, employment, social functioning and family creation. Reducing the stigma will help to increase socialization of epileptic patients, hence, improving their quality of life.

Objective: to assess the degree of awareness about epilepsy amongst junior and senior students of the Volgograd State Medical University (VolSMU) and to estimate the level of stigmatization of epilepsy. 

Materials and methods. For the purpose of the study, we developed a questionnaire containing 12 questions. A total of 508 students of medical and pediatric faculties of the VolSMU participated in the anonymous survey. Statistical data analysis was performed using Microsoft Excel. 

Conclusions. Despite the increasing awareness about epilepsy and first aid for this category of patients, senior students of the VolSMU still have erroneous social stereotypes about patients with epilepsy. 

Alalia is a speech disorder that develops due to organic brain damage in children with normal hearing and intelligence during the first three year of life. Systemic speech underdevelopment in alalia is characterized by violations in the phonetic, phonemic, lexical, and grammatical structure. Patients with alalia can also have non-speech related impairments, including motor (impaired movement and coordination), sensory (impaired sensitivity and perception), and psychopathological disorders. There are three types of alalia: motor, sensory, and mixed. Children with motor alalia have expressive language disorders, speech praxis, poor speech fluency, impaired articulation, and other focal neurological symptoms; however, they understand speech directed to them. Patients with motor alalia are often left-handed. Regional slowing and epileptiform activity are often detected on their electroencephalogram.  Children with sensory alalia are characterized by poor speech understanding (despite normal hearing) resulting in secondary underdevelopment of their own speech. These patients have problems with the analysis of sounds, including speech sounds (impaired speech gnosis), which prevents the development of association between the sound image and the object. Therefore, the child hears, but does not understand the speech directed at him/her (auditory agnosia). Differential diagnosis of alalia is challenging and may require several months of observation. It also implies the exclusion of hearing loss and mental disorders.

Congenital deficiency of vitamin B12 in children is a frequent metabolic disorder in pediatric practice. The disease has multiple symptoms, including various somatic and nervous manifestations. The main symptom of vitamin B12 deficiency is the regression of psychomotor development with significant trophic impairments and changes in the internal organs. Without substitution therapy with vitamin B12, these children quickly develop irreversible disorders that can lead to death, whereas timely parenteral administration of vitamin B12 can ensure the restoration of the initial development level. We describe a patient aged 1 y. o. 4 months, who was diagnosed with vitamin B12 deficiency anemia and general vitamin B12 deficiency at the age of 8 months; as a result, the child developed various paroxysms that were considered to be epileptic. The patients started to receive vitamin B12 and antiepileptic drugs, which helped to achieve clinical remission with normal psychomotor development.

Linear nevus sebaceous is a rare sporadic neuro-oculocutaneous syndrome characterizes by a triad of symptoms: linear nevus sebaceous, lesion of the central nervous system and lesion of the organs of vision. The authors present a brief overview of Russian and foreign literature and clinical observation of a patient with a specific skin lesion against the background of the congenital Schimmelpenning–Feuerstein–Mims syndrome. The problems of differential diagnostics of the nevus sebaceous of Jadassohn with the syndrome Schimmelpenning–Feuerstein–Mims are analyzed.

Neuromyelitis optica spectrum disorder is an inflammatory demyelinating disease of the central nervous system with selective damage to the optic nerves and spinal cord. The clinical case of a child 11 years old and its course throughout the year, with an onset in the form of an episode of visual impairment with signs of a previously developed partial atrophy of the optic nerves of both eyes and a manifestation of retrobulbar neuritis on the left eye is considered in the article. Repeatedly conducted magnetic resonance examination revealed a pattern of focal lesion of the left and then of the right optic nerve with a violation of the integrity of the blood brain barrier and an extended focus in the structure  of the spinal cord of the cervical spine. The blood test for antibody to aquaporin-4 was positive. Optical coherence tomography revealed decrease in the thickness of the peripapillary fibers of the retina in all quadrants in both eyes, which indicates a partial atrophy of the optic nerves  of both eyes, as a result of repeatedly transferred retrobulbar neuritis in both eyes.

Focal central nervous system damage can be a result of infectious process in brain or spinal cord, autoimmune or hypoxic-ischemic process and a relationship of these processes. Difficulties in differential diagnosis of variant pathogenic focuses in central nervous system are related with absence of specific clinical and laboratory data. In such cases brain biopsy can help to make right diagnosis. In this article we characterized diagnostical process in teenage girl with progressive case of acute disseminated encephalomyelitis and vegetative status as complication, though she got large doses of steroids and intravenous immunoglobulins at the disease onset, with positive dynamic as a result of prolonged antiviral therapy. The diagnosis was made only by brain biopsy – we found herpesviral brain damage, further the disease transformed  in multiple sclerosis.