Pub Date : 2021-11-04DOI: 10.17650/2073-8803-2021-16-3-46-54
P. L. Sokolov, A. G. Prityko, N. V. Chebanenko, P. Romanov
Background. The problem of preventing the development of gross congenital brain lesions and their successful treatment is more than relevant now. It is known that approximately in every third case of the development of congenital cerebral palsy (CP), it is impossible to identify the main pathogenetic factor. This determines the activity of the search for gene mechanisms for the formation of this phenotype. G. McMichael et al. were among the first to identify the most relevant directions of the influence of genes on the formation of the CP phenotype.Objective: to study the influence of gene determinants on the formation of the phenotype of CP, which is not accompanied by epilepsy.Materials and methods. Gene abnormalities in 18 patients with CP were divided into groups of determinable physiological processes. Genetic mutations were confirmed by next generation sequencing (NGS) and Sanger trio methods. For the study, samples of the patients' venous blood were taken.Results and discussion. The analysis showed that genes from different groups by determinants are to varying degrees associated with the formation of the CP phenotype. The “map of determinants” in the pathogenesis of CP is specific. The pathogenesis involves genetically determined disorders of cell division and neuroontogenesis (neuronal migration, sprouting, myelination, partly apoptosis), cell metabolism, including those whose disturbance leads to the formation of storage diseases, transmembrane transport, the exchange of neurotransmitters and the functioning of synapses, the formation of and the functioning of the cytoskeleton, as well as the regulation of immunity and oncogenesis. Malformations of the brain are more often associated with determinants of the regulation of the formation and functioning of the cytoskeleton, neuroontogenesis, as well as the processes of cell division (chromatin modification, transcription, replication). The pathogenesis of congenital cerebral palsy does not involve (according to our data) the determinants of canalopathy, energy supply of the cell, intracellular synthesis with the Golgi complex, and ribosomal synthesis.Conclusions. Genetically determined CP is a universal phenotype that implements the multidirectional effect of the genome. The influence of the genome does not apply to the energy supply of the cell, ribosomal synthesis and the functioning of the Golgi complex. In the absence of epilepsy in the phenotype, there is no influence of the genes of canalopathies.
{"title":"Clinical and genetic parallels in congenital brain lesions without epilepsy","authors":"P. L. Sokolov, A. G. Prityko, N. V. Chebanenko, P. Romanov","doi":"10.17650/2073-8803-2021-16-3-46-54","DOIUrl":"https://doi.org/10.17650/2073-8803-2021-16-3-46-54","url":null,"abstract":"Background. The problem of preventing the development of gross congenital brain lesions and their successful treatment is more than relevant now. It is known that approximately in every third case of the development of congenital cerebral palsy (CP), it is impossible to identify the main pathogenetic factor. This determines the activity of the search for gene mechanisms for the formation of this phenotype. G. McMichael et al. were among the first to identify the most relevant directions of the influence of genes on the formation of the CP phenotype.Objective: to study the influence of gene determinants on the formation of the phenotype of CP, which is not accompanied by epilepsy.Materials and methods. Gene abnormalities in 18 patients with CP were divided into groups of determinable physiological processes. Genetic mutations were confirmed by next generation sequencing (NGS) and Sanger trio methods. For the study, samples of the patients' venous blood were taken.Results and discussion. The analysis showed that genes from different groups by determinants are to varying degrees associated with the formation of the CP phenotype. The “map of determinants” in the pathogenesis of CP is specific. The pathogenesis involves genetically determined disorders of cell division and neuroontogenesis (neuronal migration, sprouting, myelination, partly apoptosis), cell metabolism, including those whose disturbance leads to the formation of storage diseases, transmembrane transport, the exchange of neurotransmitters and the functioning of synapses, the formation of and the functioning of the cytoskeleton, as well as the regulation of immunity and oncogenesis. Malformations of the brain are more often associated with determinants of the regulation of the formation and functioning of the cytoskeleton, neuroontogenesis, as well as the processes of cell division (chromatin modification, transcription, replication). The pathogenesis of congenital cerebral palsy does not involve (according to our data) the determinants of canalopathy, energy supply of the cell, intracellular synthesis with the Golgi complex, and ribosomal synthesis.Conclusions. Genetically determined CP is a universal phenotype that implements the multidirectional effect of the genome. The influence of the genome does not apply to the energy supply of the cell, ribosomal synthesis and the functioning of the Golgi complex. In the absence of epilepsy in the phenotype, there is no influence of the genes of canalopathies.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"14 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116762911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-28DOI: 10.17650/2073-8803-2020-15-2-55-59
A. S. Kotov, E. V. Mukhina, A. Shatalin, M. V. Panteleeva, M. Bunak
Guillain–Barré syndrome – an acute demyelinating autoimmune disease characterized by lesions of the peripheral nervous system and consequently peripheral paralysis, paresthesias and/or pain. Guillain–Barré syndrome is a predominant cause of acute flaccid paralysis, which may occur at any age. We present two clinical cases of flaccid paralysis with patients at the age of 7 and 5 years requiring verification of the diagnosis.
{"title":"Difficulties of differential diagnostics of Guillain–Barré syndrome in children. The discussion of two clinical cases","authors":"A. S. Kotov, E. V. Mukhina, A. Shatalin, M. V. Panteleeva, M. Bunak","doi":"10.17650/2073-8803-2020-15-2-55-59","DOIUrl":"https://doi.org/10.17650/2073-8803-2020-15-2-55-59","url":null,"abstract":"Guillain–Barré syndrome – an acute demyelinating autoimmune disease characterized by lesions of the peripheral nervous system and consequently peripheral paralysis, paresthesias and/or pain. Guillain–Barré syndrome is a predominant cause of acute flaccid paralysis, which may occur at any age. We present two clinical cases of flaccid paralysis with patients at the age of 7 and 5 years requiring verification of the diagnosis.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125024324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-09-28DOI: 10.17650/2073-8803-2020-15-2-60-64
D. R. Shagieva, R. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. Musin
The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.
{"title":"Gaucher disease type 2 (case report)","authors":"D. R. Shagieva, R. Magzhanov, A. R. Rakhmatullin, E. V. Sayfullina, R. Musin","doi":"10.17650/2073-8803-2020-15-2-60-64","DOIUrl":"https://doi.org/10.17650/2073-8803-2020-15-2-60-64","url":null,"abstract":"The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"93 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126961771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-05-18DOI: 10.17650/2073-8803-2020-15-1-40-46
A. V. Drobitova, A. Karas, N. V. Maslova, K. Mukhin
Febrile infection-related epilepsy syndrome (FIRES) is an exceedingly rare disorder that affects 1 in 1.000.000 children. However, we believe that FIRES is more common, since many cases remain undiagnosed. The exact pathogenesis of this clinical syndrome is still poorly understood. There are several theories of its development, including immune, genetic, and inflammatory-mediated ones. FIRES is known to have dismal outcomes with a death rate of up to 30 % in the acute phase and subsequent development (often immediately after the acute phase) of refractory epilepsy and mental retardation in 66–100 % of survivors. Despite the increasing number of publications, the problems of timely diagnosis and treatment of such patients have not yet been addressed. We describe 6 patients presumed to have had FIRES. The most common outcomes included drug-resistant epilepsy, as well as cognitive and behavioral disorders. Continuing seizures and epileptiform activity on the electroencephalogram trigger cognitive and behavioral disorders. The analysis of treatment outcomes indicates that combinations of carbamazepine / oxcarbazepine with other antiepileptic drugs are most effective.
{"title":"Febrile infection-related epilepsy syndrome: long-term consequences (own observations)","authors":"A. V. Drobitova, A. Karas, N. V. Maslova, K. Mukhin","doi":"10.17650/2073-8803-2020-15-1-40-46","DOIUrl":"https://doi.org/10.17650/2073-8803-2020-15-1-40-46","url":null,"abstract":"Febrile infection-related epilepsy syndrome (FIRES) is an exceedingly rare disorder that affects 1 in 1.000.000 children. However, we believe that FIRES is more common, since many cases remain undiagnosed. The exact pathogenesis of this clinical syndrome is still poorly understood. There are several theories of its development, including immune, genetic, and inflammatory-mediated ones. FIRES is known to have dismal outcomes with a death rate of up to 30 % in the acute phase and subsequent development (often immediately after the acute phase) of refractory epilepsy and mental retardation in 66–100 % of survivors. Despite the increasing number of publications, the problems of timely diagnosis and treatment of such patients have not yet been addressed. We describe 6 patients presumed to have had FIRES. The most common outcomes included drug-resistant epilepsy, as well as cognitive and behavioral disorders. Continuing seizures and epileptiform activity on the electroencephalogram trigger cognitive and behavioral disorders. The analysis of treatment outcomes indicates that combinations of carbamazepine / oxcarbazepine with other antiepileptic drugs are most effective.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"97 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128455616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-05-18DOI: 10.17650/2073-8803-2020-15-1-47-61
N. Y. Perunova, M. Bobylova, T. M. Prygunova
Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggravation of parkinsonism and develop complications, such as torsion dystonia. We analyzed medical records of 5 female patients aged between 2.5 and 6 years. There were no family relationships between patients’ families. All children had problems with their motor skills: 4 out of 5 patients could only crawl; none of them could walk independently. We also observed severe speech disorders in these patients: they had no expressive speech along with reduced understanding of speech. Their behavior was characterized by contact disorders and multiple stereotypies. All children had no self-service skills. The assessment of neurological status demonstrated uniform symmetrical paresis (score 3–4; 100 % of cases), increased muscle tone of the extrapyramidal type (40 % of cases), and diffuse muscle hypotension with ataxia (40 % of cases). One patient (with autistic-like behavior) had no motor disorders. Magnetic resonance imaging showed non-specific changes in 100 % of cases (diffuse cortical / subcortical atrophy, secondary hydrocephalus ex vacuo). One patient was found to have hypointense signal in the substantia nigra and globus pallidus on follow-up T2‑weighted magnetic resonance images obtained at the age of 6 years. All patients presented with epilepsy: West syndrome (n = 1), Lennox–Gastaut syndrome (n = 1), focal epilepsy with asymmetric tonic seizures (n = 1), and focal epilepsy with febrile generalized tonic-clonic seizures (n = 2). Remission for more than 1 year was achieved in 4 out of 5 patients. The following electroencephalographic patterns were identified before treatment initiation: hypsarrhythmia with transformation into epilepsy with a pattern of continued spike-and-wave activity during sleep (n = 1), multi-regional epileptiform activity with a tendency to diffuse spread and predominance in the frontal region (n = 3), and regional epileptiform activity in the frontocentral area (n = 1). The initial therapy with first-line drugs was highly effective and ensured remission in 3 patients; one patient had remission in response to hormone therapy; one patient continued to have seizures despite polytherapy with antiepileptic drugs. Interictal epileptiform activity was completely blocked by treatment in 2 cases; the rest of the patients had transformation of epilepsy into benign epileptiform discharges of childhood (n = 3).
{"title":"Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases","authors":"N. Y. Perunova, M. Bobylova, T. M. Prygunova","doi":"10.17650/2073-8803-2020-15-1-47-61","DOIUrl":"https://doi.org/10.17650/2073-8803-2020-15-1-47-61","url":null,"abstract":"Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggravation of parkinsonism and develop complications, such as torsion dystonia. We analyzed medical records of 5 female patients aged between 2.5 and 6 years. There were no family relationships between patients’ families. All children had problems with their motor skills: 4 out of 5 patients could only crawl; none of them could walk independently. We also observed severe speech disorders in these patients: they had no expressive speech along with reduced understanding of speech. Their behavior was characterized by contact disorders and multiple stereotypies. All children had no self-service skills. The assessment of neurological status demonstrated uniform symmetrical paresis (score 3–4; 100 % of cases), increased muscle tone of the extrapyramidal type (40 % of cases), and diffuse muscle hypotension with ataxia (40 % of cases). One patient (with autistic-like behavior) had no motor disorders. Magnetic resonance imaging showed non-specific changes in 100 % of cases (diffuse cortical / subcortical atrophy, secondary hydrocephalus ex vacuo). One patient was found to have hypointense signal in the substantia nigra and globus pallidus on follow-up T2‑weighted magnetic resonance images obtained at the age of 6 years. All patients presented with epilepsy: West syndrome (n = 1), Lennox–Gastaut syndrome (n = 1), focal epilepsy with asymmetric tonic seizures (n = 1), and focal epilepsy with febrile generalized tonic-clonic seizures (n = 2). Remission for more than 1 year was achieved in 4 out of 5 patients. The following electroencephalographic patterns were identified before treatment initiation: hypsarrhythmia with transformation into epilepsy with a pattern of continued spike-and-wave activity during sleep (n = 1), multi-regional epileptiform activity with a tendency to diffuse spread and predominance in the frontal region (n = 3), and regional epileptiform activity in the frontocentral area (n = 1). The initial therapy with first-line drugs was highly effective and ensured remission in 3 patients; one patient had remission in response to hormone therapy; one patient continued to have seizures despite polytherapy with antiepileptic drugs. Interictal epileptiform activity was completely blocked by treatment in 2 cases; the rest of the patients had transformation of epilepsy into benign epileptiform discharges of childhood (n = 3).","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129583964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-05-16DOI: 10.17650/2073-8803-2019-14-4-43-56
A. P. Gertsen, V. Rumyantsev, A. A. Iskanderova, A. A. Bakitova
Epilepsy is a common disease of the nervous system that requires long-term (often lifelong) use of drugs that allow many people with this diagnosis to lead an active social life with no risk of disability or life-threatening situations. Despite the existing normative acts regulating the provision of free medicines to epilepsy patients, there are still many problems associated with the compliance with the current legislation (Constitution of the Russian Federation) and the availability of free medicines for patients with epilepsy. In this article, we tried to cover the main norms of the current legislation regulating the issues of providing patients with epilepsy with free medicines; this can be helpful for both physicians and patients in overcoming bureaucratic barriers when confronting medical officials in defending the rights of patients.
{"title":"Provision of free medicines to patients with epilepsy","authors":"A. P. Gertsen, V. Rumyantsev, A. A. Iskanderova, A. A. Bakitova","doi":"10.17650/2073-8803-2019-14-4-43-56","DOIUrl":"https://doi.org/10.17650/2073-8803-2019-14-4-43-56","url":null,"abstract":"Epilepsy is a common disease of the nervous system that requires long-term (often lifelong) use of drugs that allow many people with this diagnosis to lead an active social life with no risk of disability or life-threatening situations. Despite the existing normative acts regulating the provision of free medicines to epilepsy patients, there are still many problems associated with the compliance with the current legislation (Constitution of the Russian Federation) and the availability of free medicines for patients with epilepsy. In this article, we tried to cover the main norms of the current legislation regulating the issues of providing patients with epilepsy with free medicines; this can be helpful for both physicians and patients in overcoming bureaucratic barriers when confronting medical officials in defending the rights of patients.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116532401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-16DOI: 10.17650/2073-8803-2019-14-3-7-10
A. Petrukhin
.
．
{"title":"Neurology in Russia: reality and the pursuit of ideal","authors":"A. Petrukhin","doi":"10.17650/2073-8803-2019-14-3-7-10","DOIUrl":"https://doi.org/10.17650/2073-8803-2019-14-3-7-10","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116102305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-05-23DOI: 10.17650/2073-8803-2019-14-1-36-39
E. Mukhina, A. Kotov
This article provides an overview of the current literature on the most common complication of type 1 diabetes in children – diabetic neuropathy (DN). Diabetic neuropathy is a consequence of the widespread defeat of neurons and their processes in the central and peripheral nervous system due to metabolic, vascular and immune changes in diabetes and manifested in most children and adolescents with distal polyneuropathy and autonomic neuropathy. The mechanisms of the pathogenesis of the development of DN are discussed in the article, and it is noted that the clinical picture of DN is diverse and depends on the severity, nature of the lesion and the type of nerve fibers. The article deals with diagnostics, the criteria for diagnosis and treatment of DN.
{"title":"Lesions of the nervous system in children with type 1 diabetes mellitus (literature review)","authors":"E. Mukhina, A. Kotov","doi":"10.17650/2073-8803-2019-14-1-36-39","DOIUrl":"https://doi.org/10.17650/2073-8803-2019-14-1-36-39","url":null,"abstract":"This article provides an overview of the current literature on the most common complication of type 1 diabetes in children – diabetic neuropathy (DN). Diabetic neuropathy is a consequence of the widespread defeat of neurons and their processes in the central and peripheral nervous system due to metabolic, vascular and immune changes in diabetes and manifested in most children and adolescents with distal polyneuropathy and autonomic neuropathy. The mechanisms of the pathogenesis of the development of DN are discussed in the article, and it is noted that the clinical picture of DN is diverse and depends on the severity, nature of the lesion and the type of nerve fibers. The article deals with diagnostics, the criteria for diagnosis and treatment of DN.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123598359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-11-30DOI: 10.17650/2073-8803-2018-13-3-45-56
O. Pylaeva, K. Mukhin
Background. Despite significant advances in epileptology, approximately 30 % of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there are still many patients with treatment-resistant disease, in whom surgery is impossible and alternative methods (vagus nerve stimulation and ketogenic diet) are ineffective. Thus, searching for new effective antiepileptic drugs (AED) for these patients remains highly relevant. In this article, we reviewed available publications and provided own results on the efficacy and tolerability of brivaracetam (Briviact®) in patients with intractable focal epilepsy.Materials and methods. The study included 8 patients aged between 16 and 35 years (mean age 18.3 years; 2 males and 6 females) with intractable focal epilepsy treated at the Svt. Luka’s Institute of Child Neurology and Epilepsy between February 1st, 2017 and September 1st, 2018.All patients received brivaracetam as an additional AED for the treatment of focal and bilateral convulsive seizures. Patients were followed up for 1 to 7.5 months. Brivaracetam was added to 1 or 2 AED (valproate, topiramate, or carbamazepine/oxcarbazepine) at a dose of 100–200 mg/day divided into 2 doses.Results and discussion. Good therapeutic effect (more than 50 % reduction in seizure frequency) was registered in 4 patients (50 %). Two patients (25 %) achieved a 25–50 % reduction in seizure frequency. Minimal clinical efficacy with no effect was observed in one patient (12.5 %). One patient (12.5 %) had aggravation of focal and motor seizures. Brivaracetam significantly reduced the severity (intensity and duration) of epileptic seizures in 70 % of patients. Four patients demonstrated substantial improvements on electroencephalogram (decreased epileptiform activity). One patient had complete suppression of epileptiform activity. Brivaracetam was most effective for bilateral convulsive seizures: 4 out of 5 patients experienced complete relief of these seizures.Brivaracetam demonstrated good tolerability: no side effects were registered in this study. Six out of 8 participants (75 %) currently continue treatment with brivaracetam. It is important that none of the patients had to stop brivaracetam due to poor tolerability. Of note, all of study participants started to receive brivaracetam because they had seizures resistant to multiple (more than 2–3) AED.Conclusion. Our findings suggest high efficacy and good tolerability of brivaracetam in patients with focal epilepsy. Our results are also consistent with the data reported by foreign authors.
{"title":"Efficacy and tolerability of brivaracetam in the treatment of epilepsy: literature review and own experience","authors":"O. Pylaeva, K. Mukhin","doi":"10.17650/2073-8803-2018-13-3-45-56","DOIUrl":"https://doi.org/10.17650/2073-8803-2018-13-3-45-56","url":null,"abstract":"Background. Despite significant advances in epileptology, approximately 30 % of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there are still many patients with treatment-resistant disease, in whom surgery is impossible and alternative methods (vagus nerve stimulation and ketogenic diet) are ineffective. Thus, searching for new effective antiepileptic drugs (AED) for these patients remains highly relevant. In this article, we reviewed available publications and provided own results on the efficacy and tolerability of brivaracetam (Briviact®) in patients with intractable focal epilepsy.Materials and methods. The study included 8 patients aged between 16 and 35 years (mean age 18.3 years; 2 males and 6 females) with intractable focal epilepsy treated at the Svt. Luka’s Institute of Child Neurology and Epilepsy between February 1st, 2017 and September 1st, 2018.All patients received brivaracetam as an additional AED for the treatment of focal and bilateral convulsive seizures. Patients were followed up for 1 to 7.5 months. Brivaracetam was added to 1 or 2 AED (valproate, topiramate, or carbamazepine/oxcarbazepine) at a dose of 100–200 mg/day divided into 2 doses.Results and discussion. Good therapeutic effect (more than 50 % reduction in seizure frequency) was registered in 4 patients (50 %). Two patients (25 %) achieved a 25–50 % reduction in seizure frequency. Minimal clinical efficacy with no effect was observed in one patient (12.5 %). One patient (12.5 %) had aggravation of focal and motor seizures. Brivaracetam significantly reduced the severity (intensity and duration) of epileptic seizures in 70 % of patients. Four patients demonstrated substantial improvements on electroencephalogram (decreased epileptiform activity). One patient had complete suppression of epileptiform activity. Brivaracetam was most effective for bilateral convulsive seizures: 4 out of 5 patients experienced complete relief of these seizures.Brivaracetam demonstrated good tolerability: no side effects were registered in this study. Six out of 8 participants (75 %) currently continue treatment with brivaracetam. It is important that none of the patients had to stop brivaracetam due to poor tolerability. Of note, all of study participants started to receive brivaracetam because they had seizures resistant to multiple (more than 2–3) AED.Conclusion. Our findings suggest high efficacy and good tolerability of brivaracetam in patients with focal epilepsy. Our results are also consistent with the data reported by foreign authors.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123023331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-11-30DOI: 10.17650/2073-8803-2018-13-2-34-57
К. Yu. Мukhin, О. A. Pylaeva
Lennox–Gastaut syndrome (LGS) is a childhood epileptic encephalopathy characterized by frequent polymorphic seizures (including tonic axial seizures), pronounced cognitive impairment, typical changes in the electroencephalogram and drug resistance. Frequency of LGS accounts for approximately 4–10 % of all childhood epilepsy. The difficulties in the diagnosis and treatment of LGS are associated with the presence of various seizures that are frequently resistant to multiple antiepileptic drugs as well as with the disease evolution with age. This review covers the main principles of LGS therapy, analyzes the most common antiepileptic drugs used in LGS, and describes clinical trials evaluating the efficacy and tolerability of antiepileptic drugs in LGS. The article contains a detailed algorithm for the treatment of LGS, based on international guidelines and expert opinions.
{"title":"Modern approaches in the treatment of Lennox–gastaut syndrome (a review of literature)","authors":"К. Yu. Мukhin, О. A. Pylaeva","doi":"10.17650/2073-8803-2018-13-2-34-57","DOIUrl":"https://doi.org/10.17650/2073-8803-2018-13-2-34-57","url":null,"abstract":"Lennox–Gastaut syndrome (LGS) is a childhood epileptic encephalopathy characterized by frequent polymorphic seizures (including tonic axial seizures), pronounced cognitive impairment, typical changes in the electroencephalogram and drug resistance. Frequency of LGS accounts for approximately 4–10 % of all childhood epilepsy. The difficulties in the diagnosis and treatment of LGS are associated with the presence of various seizures that are frequently resistant to multiple antiepileptic drugs as well as with the disease evolution with age. This review covers the main principles of LGS therapy, analyzes the most common antiepileptic drugs used in LGS, and describes clinical trials evaluating the efficacy and tolerability of antiepileptic drugs in LGS. The article contains a detailed algorithm for the treatment of LGS, based on international guidelines and expert opinions.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"18 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129162812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：