POLG-associated diseases are rare causes of pharmacoresistant epilepsy and status epilepticus, especially in adult patients. Phenotypic and genotypic variability in these conditions causes the complexity of their diagnosis. In the study, we report a case of a 33-year-old female patient who developed recurrent convulsive status epilepticus with focal clonic onset at the week 22/23 of pregnancy. Intensive anti-seizure therapy was administered, including the use of valproic acid, as well as the treatment of somatic complications. Given the acute onset, the semiology of seizures, the presence of psychopathological symptoms, autoimmune etiology of the disease was initially suspected. A month after the withdrawal of valproic acid, the patient began to show signs of toxic hepatitis, which eventually led to death. According to the results of whole-exome sequencing obtained later, the patient was a carrier of a pathogenic homozygous variant c.2243G>C (p.W748S) in the POLG gene. The presented case highlights the importance of molecular genetic testing and the risk associated with valproic acid hepatotoxicity in patients with cryptogenic epileptic status.

Background. Application of a biomarker panel during the acute period of the ischemic stroke (IS) can contribute to a more accurate and prompter diagnostics and verification of the optimal approach to a patients’ management.Objective. We aimed to clarify values of neuron-specific enolase (NSE), glial fibrillar acidic protein (GFAP) and antibodies for NMDA receptor’s NR2-subunit (NR2-antibodies) in the acute period of IS, to compare with such values in patients without IS, to assess their relationship with severity of neurological deficit and short-term outcome and also to establish sensitivity and specificity of the biomarker panel.Design and methods. 63 patients with IS and 31 people (11 with chronic brain ischemia and 20 healthy individuals) as controls were included. Results. NSE and GFAP values in IS group exceeded reference values at the onset of disease, lowering significally by 10-14 day, while NR2-antibodies’ values were lower at the onset of the disease compared with controls, rising by 10-14 day. In patients with unfavourable short-term outcome higher levels of NSE, GFAP and NR2-antibodies were found. A panel of such biomarkers has higher sensitivity and specificity than each of them individually.Conclusion. Researched substances can be used in a biomarker panel for IS diagnostics, brain damage monitoring, patient’s condition evaluation and short outcome prognosing.

Miller Fisher syndrome is one of the forms of Guillain–Barrе́ syndrome, characterized by a clinical triad that includes ophthalmoplegia, ataxia and areflexia, with the possible addition of moderate peripheral tetraparesis. During the year that has passed since the start of the pandemic of the new coronavirus infection COVID‑19, international publications have presented a few cases of Miller Fisher syndrome, which developed in patients at different times after the COVID‑19 infection – from 3–5 days to 3 weeks. The article presents a description of a clinical case of Miller Fisher syndrome, which occurred with 34‑year‑old man 21 days after the COVID‑19 infection. The clinical manifestations of Miller Fisher syndrome were typical and included diplopia, areflexia, and ataxia. At the beginning of the disease, there was a transient episode of speech impairment in the form of mild dysarthria. Oculomotor disorders predominated in the clinical picture over other components of the classical triad. On the background of treatment with human immunoglobulin G, there was a complete regression of symptoms.This description of Miller Fisher syndrome, which developed after the postponed infection with COVID‑19, is the first in Russia. The presented case demonstrates the ability of the SARS‑CoV‑2 virus to induce the development of an autoimmune disease. Practitioners should take into account the possibility of Miller Fisher syndrome developing in the event of an acute onset of diplopia, ataxia and areflexia in patients after a previous COVID‑19 infection.

Background . To determine the optimal approach to managing patients in the acute period of stroke, the search for biomarkers that can increase value of existing diagnostic methods continues. Objective : to clarify the significance of the levels of neuron-specific enolase (NSE), glial fibrillar acid protein (GFAP), NR2-antibodies in the blood serum (BS) of patients in the acute period of ischemic stroke (IS) in dynamics, determine their relationship with the severity of neurological disturbances and short-term outcome. Design and methods . 40 patients were examined in the acute period of IS, mean age 72.6 ± 1.9 years. The levels of biomarkers were determined in the BS in the first 72 hours of IS and on days 10–14. Results . The concentration of NSE and GFAP in patients with IS in the first 72 hours exceeded the reference values and significantly decreased by 10–14 days (34.9 ± 5.9 → 17.7 ± 1.1; p = 0.007 and 0.4 ± 0, 1 → 0.2 ± 0.005, p = 0.22 respectively). The level of NR2 antibodies did not exceed of the reference values (1.01 ± 0.3), and in dynamics, by 10–14 days, an increase in the indicator was noted (1.1 ± 0.3), p = 0.007. In patients with more severe symptoms, the concentration of NSE, GFAP and NR2 antibodies was higher by 10–14 days. Patients who had an unfavorable short-term outcome by 10–14 days had a higher level of NSE, GFKB and NR2 antibodies. Conclusion . The investigated substances can be used as biomarkers in IS to control the degree of damage to the brain tissue, monitor the worsening of the pathological process, as well as for prognostic purposes.

Opsoclonus-myoclonus syndrome (OMS) is a very rare condition with various etiologies (paraneoplastic, parainfectious, toxic, idiopathic, etc.) with an autoimmune pathogenetic mechanism of development. The authors describe the case of OMS in a 41-year-old woman at 37 weeks of gestation, who developed opsoclonus, myoclonus, severe trunk ataxia, tremor and bilateral pyramidal symptoms, inability to sit, stand and walk without support. Differential diagnosis was conducted between virus-induced OMS, rotavirus encephalitis, paraneoplastic syndrome, and demyelinating diseases of the central nervous system. Routine laboratory tests of blood and urine, serological tests of blood and cerebrospinal fluid (CSF) revealed no pathology. Only small lymphocytic pleocytosis and a slight increase in protein were observed in CSF. No pathology was detected during magnetic resonance imaging. On the 40th week of pregnancy (20th day of illness), the patient gave birth to a healthy full-term baby through the birth canal. In view of the most likely autoimmune process triggered by rotavirus infection, intravenous immunosuppressive therapy with methylprednisolone (1000 mg/day №3) was performed, followed by switching to prednisolone per os (60 mg/kg/day), as well as neuroprotective and neurometabolic therapy with cytoflavin. On day 42 of the illness (and on day 20 of the immunosuppressive therapy), a significant positive trend was noted. The patient was discharged on day 56 with light residual elements of opsoclonus and ataxia, and could walk independently without support. Thus, in case of suspected OMS, it is necessary to conduct a mandatory full diagnostic search, especially aimed at exclusion of the paraneoplastic process. And also, given the possibility of recurrence, further outpatient monitoring of these patients should be carried out.

Background. Thermometry of acupuncture points in patients with a cardio- neurological profile with a coma in clinic in the acute period of ischemic stroke is a factor that increases the effectiveness of treatment and extends early rehabilitation measures. Objective. The rationale for the application of monitoring the temperature of the skin surface in the area of representative acupuncture points to determine the area of influence and to control the dynamics of the course application of infrared radiation with terahertz modulation in complex treatment and early rehabilitation of patients in acute of ischemic stroke. Design and methods. The understanding of the normal values of temperature at acupuncture points was obtained according to the monitoring its temperature indicators ("Acupuncture Points Temperature Monitoring" test = APTM-test) in 120 conditionally healthy people: 60 men and 60 women aged 23 to 65 (mean age 58 ± 2.5 years). Sensitec NF-3101 (Nederland) infrared non-contact thermometer was used to measure the temperature in points. The study took place at the departments of cardiology, resuscitation and neurology at Almazov National Medical Research Centre. The study included 60 patients of cardio-neurological profile in the acute period of ischemic stroke with clinical symptoms of coma at 24 women and 36 men aged from 18 to 86 years (mean age 59 ± 1.2 years). Results. Exposure of acupuncture points (Bai Hui (GV 20), Guan Yuan (CV 4), Da Zhui (GV 14), Dabao (SP 21), He Gu (LI 4), Tai Chong (LV 3)) to infrared terahertz radiation was carried out prior to stabilization of temperature indicators within the normal range during regress of clinical symptoms with a decrease in thermal asymmetry at paired points in patients with acute ischemic stroke. Conclusion. A set of representative acupuncture points (APTM-test) was proposed to monitor the temperature, to select the area of exposure, and to control the dynamics of the clinical symptoms of patients in the acute period of ischemic stroke. Acupuncture points temperature and thermal asymmetry monitoring in patients with acute ischemic stroke allows us to evaluate the regression of clinical symptoms and increase the effectiveness of complex treatment and rehabilitation.

ABSTRACTAnti N-methyl-D-aspartate (NMDA) re-ceptor en-cephalitis is an immune medi-ated disorder and it is a dis-order of the limbic system that largelyaf-fects female children. Anti-NMDA recep-tor encephalitis was actually described as a paraneoplastic syndrome as it is associated with ovarianteratomas con-taining neural tissue with an-tibodies cross reacting to the NMDA recep-tors. Here we discuss a case of NMDA re-ceptor en-cephalitis.Keywords: Anti NMDA, Paraneoplastic Syndrome, Tera-toma.

Objective. We present the data of the retrospective clinical study in order to summarize the experience of the implementation of infrared radiation with terahertz modulation 0,086–7,5 μm (0,02 to 8 THz) in patients with acute ischemic stroke (AIS). Design and methods. We followed up 61 patients with AIS (age from 18 to 86 years, mean age 59 ± 1 year), 24 women and 36 men, who were divided into two groups: group I (n = 30) and II (n = 31). Patients from the group II received standard pharmacotherapy in acute stroke unit and during hospitalization. Patients from the group I in addition to standard pharmacotherapy underwent procedures of transcranail application of infrared radiation. The radiator was established on parietal area in a projection of an acupuncture point Bai-Huey (VG‑20) independent of brain lesion localization. Results. Patients from the group I demonstrated earlier recovery, earlier consciousness, a more rapid regression of neurological symptoms and earlier expansion of physical activities compared to the second group. For two years of dynamic supervision patients from the group I showed stable and even better indicators of Barthel index, Rankin scale and National Institutes of Health Stroke Scale (NIHHS) compared to the group II. This can be due to the better compliance of patients from the group I to treatment and a positive effect of the 6–10 procedures of the infrared radiation modulated by terahertz frequencies. Conclusions. Infrared radiation modulated by terahertz frequencies can be recommended in acute ischemic stroke as a part of complex treatment. A prospective controlled randomized study involving patients with ischemic stroke is required in order to develop the precise approaches for infrared radiation application.

Effectiveness of infrared-terahertz radiation with acupuncture in the initial period of ischemic stroke. This article presents the data of observational retrospective clinical investigation aiming at generalization of the experience of usage of infrared terahertz radiation combined with acupuncture for treatment of the patients in the initial period of ischemic stroke. The experimental group contained 30 patients which had various clinical problems at the initial period of hospitalization. The attempts to dissolve these problems within the acceptable period of time employing domestic and international standard treatment approaches failed. The control group consisted of 31 patients with uncomplicated course of stroke. The patients of the experimental group in addition to the standard treatment received infrared terahertz treatment (device ) combined with acupuncture. Despite the fact that the condition of the patients in the experimental group at admission was much serious than in the control group, at the time of discharge the level of functioning of the first group was definitely higher than the second. In 6 months that superiority increased and has been retained during two years of following up. Despite the fact that the employed in the current investigation method has been used for dissolving different clinical problems, it has been resulted in increase of the general level of functioning proved by the dynamics of such an integral criterion as index Barthel. This means that employment of infrared terahertz radiation in the stroke patients possesses the systemic effect. To recommend the discussed method for treatment of all patients in the initial period of stroke as well as its repeated employment during rehabilitation the separate prospective randomized clinical trials should be undertaken.