[Status epilepticus in a pregnant patient with a previously unrecognized POLG-associated disease]. / Epilepticheskii status u beremennoi patsientki s vpervye vyyavlennym POLG-assotsiirovannym zabolevaniem.

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.

[Virus-induced opsoclonus-myoclonus syndrome during pregnancy]. / Virus-indutsirovannyi sindrom opsoklonusa-mioklonusa pri beremennosti.

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.

Effectiveness of infrared-terahertz radiation with acupuncture in the initial period of ischemic stroke.

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.

[Dopplerographic predictors of cognitive status dynamics of patients after carotid angioplasty with stenting].

The authors present dopplerographic predictors of cognitive status dynamics of patients undergoing carotid angioplasty with stenting. It was stated that the cognitive status dynamics depended on the initial condition of patients and reactivity coefficient on hypercapnia in target vascular pool.