Pub Date : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-3-31-37
L. I. Minaycheva, E. Y. Petlina, E. G. Ravzhaeva, G. Seitova
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.
{"title":"Experience of observing patients with Duchenne myopathy","authors":"L. I. Minaycheva, E. Y. Petlina, E. G. Ravzhaeva, G. Seitova","doi":"10.17650/2073-8803-2023-18-2-3-3-31-37","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-3-31-37","url":null,"abstract":"Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for pathogenetic treatment of Duchenne myodystrophy have appeared in Russia. Unfortunately, this therapy is not universal and can only be prescribed to patients with certain types and regions of mutations. Establishing an accurate diagnosis for patients will allow timely determination of observation tactics, effective implementation of preventive and rehabilitative measures, and obtaining pathogenetic treatment. Gene therapy is a perspective option. This article describes clinical cases of Duchenne myopathy in patients with different variants of mutations in the dystrophin gene against the background of pathogenetic therapy.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"29 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138601677","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-45-51
A. A. Ershova, A. S. Kotov
Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns characteristic of certain forms of leukodystrophy. Clinical examples are given for each of the identified patterns. The parieto-occipital pattern is considered in a clinical case of a 9-year-old boy with X-linked adrenoleukodystrophy. Frontal pattern there is an example of a genetically verified juvenile form of Alexander’s disease in a 16-year-old female patient. The periventricular pattern reflects leukoencephalopathy with brain stem and spinal cord involvement and increased lactate in a 9-year-old female patient. A subcortical pattern is considered within L-2-hydroxyglutoric aciduria in a 29-year-old patient. As examples of brainstem and cerebellar involvement patterns, autosomal dominant leukodystrophy with adult onset due to tandem duplication of the lamin B gene, identified in a 40-year-old patient, is considered. In conclusion, we present additional diagnostic methods for the differential diagnosis of brain white matter diseases and a brief overview of treatment.
{"title":"The main forms of leukodystrophies. Lecture and clinical cases","authors":"A. A. Ershova, A. S. Kotov","doi":"10.17650/2073-8803-2023-18-2-3-45-51","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-45-51","url":null,"abstract":"Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns characteristic of certain forms of leukodystrophy. Clinical examples are given for each of the identified patterns. The parieto-occipital pattern is considered in a clinical case of a 9-year-old boy with X-linked adrenoleukodystrophy. Frontal pattern there is an example of a genetically verified juvenile form of Alexander’s disease in a 16-year-old female patient. The periventricular pattern reflects leukoencephalopathy with brain stem and spinal cord involvement and increased lactate in a 9-year-old female patient. A subcortical pattern is considered within L-2-hydroxyglutoric aciduria in a 29-year-old patient. As examples of brainstem and cerebellar involvement patterns, autosomal dominant leukodystrophy with adult onset due to tandem duplication of the lamin B gene, identified in a 40-year-old patient, is considered. In conclusion, we present additional diagnostic methods for the differential diagnosis of brain white matter diseases and a brief overview of treatment.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"60 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138605115","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-52-58
N. V. Bronina, I. O. Schederkina, B. M. Kurmanov, E. A. Burtsev, M. V. Natrusova, G. Bronin
Glutamic acid decarboxylase (GAD) is an intracellular enzyme expressed in brain neurons and insulin-secreting β-cells of the pancreas. Anti-GAD-anitibodies are associated with type 1 diabetes mellitus, limbic encephalitis, cerebellar ataxia, temporal autoimmune epilepsy, and rigid man syndrome. We present a rare clinical case of anti-GAD-anitibodies- associated immune encephalitis in a child with beta-thalassemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT).A 3-year-old boy diagnosed with beta-thalassemia underwent allo-HSCT from a 9/10 compatible unrelated donor. The macrophage activation syndrome occurred during the early post-transplantation period. The seizure with a focal onset happened on day +65. The cytotoxic edema in the region of the left hippocampus without signs of accumulation of a contrast agent was revealed at the magnetic resonance imaging of the brain. Pleocytosis, increase in protein levels, infection and antibodies to receptors and synaptic proteins of neurons were not detected at the analysis of cerebrospinal fluid. A positive titer to anti-GAD-anitibodies was detected in the blood – 315.82 IU/ml (the norm is up to 10 IU/ml). The child was treated with cyclophosphamide 750 mg/m2, rituximab 375 mg/m2, and tocilizumab 8 mg/kg. The cytotoxic edema in the left hippocampus regressed at the control magnetic resonance imaging on day +117.Infectious, immune and toxic agents can cause the damage of central nervous system in patients after allo-HSCT. The mechanism of immune damage to the central nervous system S in such patients is still being studied and may be different: expansion of autoreactive lymphocytes due to failure of T-cell regulation due to chemo- or immunosuppressive therapy, “passenger lymphocyte” syndrome, violation of T-cell regulation due to the course of infectious complications and acute graft versus host disease.In a series of diagnostic searches in patients with central nervous system lesions after allo-HSCT, it is necessary to include immune damage to the nervous system. Diagnosis of such conditions is a difficult task due to comorbidity and multicomponent accompanying therapy, including immunosuppressive therapy, administered to patients.
{"title":"Anti-GAD encephalitis in a child with beta-thalassemia after allogeneic hematopoietic stem cell transplantation","authors":"N. V. Bronina, I. O. Schederkina, B. M. Kurmanov, E. A. Burtsev, M. V. Natrusova, G. Bronin","doi":"10.17650/2073-8803-2023-18-2-3-52-58","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-52-58","url":null,"abstract":"Glutamic acid decarboxylase (GAD) is an intracellular enzyme expressed in brain neurons and insulin-secreting β-cells of the pancreas. Anti-GAD-anitibodies are associated with type 1 diabetes mellitus, limbic encephalitis, cerebellar ataxia, temporal autoimmune epilepsy, and rigid man syndrome. We present a rare clinical case of anti-GAD-anitibodies- associated immune encephalitis in a child with beta-thalassemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT).A 3-year-old boy diagnosed with beta-thalassemia underwent allo-HSCT from a 9/10 compatible unrelated donor. The macrophage activation syndrome occurred during the early post-transplantation period. The seizure with a focal onset happened on day +65. The cytotoxic edema in the region of the left hippocampus without signs of accumulation of a contrast agent was revealed at the magnetic resonance imaging of the brain. Pleocytosis, increase in protein levels, infection and antibodies to receptors and synaptic proteins of neurons were not detected at the analysis of cerebrospinal fluid. A positive titer to anti-GAD-anitibodies was detected in the blood – 315.82 IU/ml (the norm is up to 10 IU/ml). The child was treated with cyclophosphamide 750 mg/m2, rituximab 375 mg/m2, and tocilizumab 8 mg/kg. The cytotoxic edema in the left hippocampus regressed at the control magnetic resonance imaging on day +117.Infectious, immune and toxic agents can cause the damage of central nervous system in patients after allo-HSCT. The mechanism of immune damage to the central nervous system S in such patients is still being studied and may be different: expansion of autoreactive lymphocytes due to failure of T-cell regulation due to chemo- or immunosuppressive therapy, “passenger lymphocyte” syndrome, violation of T-cell regulation due to the course of infectious complications and acute graft versus host disease.In a series of diagnostic searches in patients with central nervous system lesions after allo-HSCT, it is necessary to include immune damage to the nervous system. Diagnosis of such conditions is a difficult task due to comorbidity and multicomponent accompanying therapy, including immunosuppressive therapy, administered to patients.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"32 26","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138601406","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-38-44
G. Golosnaya, O. Krasnorutskaya, N. A. Ermolenko, D. A. Kholichev, A. V. Ogurtsov
Background. Vasculoendothelial growth factor (VEGF) is responsible for vascular remodeling, influences the formation of post-hypoxic structural changes in the newborn brain and is synergistically closely related to neurotrophic factors, being an inhibitor of apoptosis processes, which are important for lesions of the central nervous system in newborns of various types of gestational age, having suffered both acute asphyxia at birth and chronic intrauterine hypoxia. VEGF has been little studied in premature newborns, which are at high risk for the formation of intraventricular hemorrhage and periventricular leukomalacia.Aim. To study changes in the serum concentration of VEGF, its role in the pathogenesis of severe hypoxic-ischemic lesions of the central nervous system in premature newborns of various gestational ages, as well as to determine its prognostic significance for the formation of severe structural brain lesions.Materials and methods. We observed 120 children with a gestational age from 25 to 36 weeks. The children were divided into 4 groups according to changes to neurosonography data. Determination of protein level was carried out by enzyme immunoassay.Results and conclusion. With the formation of ischemic and combined (intraventricular hemorrhage and periventricular leukomalacia) forms of post-hypoxic changes in the brain in newborns, by 5–7th days of life the concentration of VEGF significantly decreased compared to the test on the 1st day of life, and by the 4th week of life it decreased in 4 times in case of combined lesions. VEGF cannot be used as a marker of damage in the acute period (up to 5 days of life), since its initial levels in the blood serum do not differ significantly from those in the control group. However, a decrease in its concentration by the end of the 1st week of life makes it possible to reliably predict the formation of post-hypoxic changes in the brain. A decrease in the level of VEGF in the blood serum in premature newborns with structural changes according to neurosonography by the 4th week of life coincides with the timing of the formation of gliotic changes, which significantly affects the developmental prognosis of the examined children
{"title":"Results of enzyme immunoassay of vasculoendothelial growth factor (VEGF) in blood serum in premature newborns with perinatal hypoxic damage to the central nervous system","authors":"G. Golosnaya, O. Krasnorutskaya, N. A. Ermolenko, D. A. Kholichev, A. V. Ogurtsov","doi":"10.17650/2073-8803-2023-18-2-3-38-44","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-38-44","url":null,"abstract":"Background. Vasculoendothelial growth factor (VEGF) is responsible for vascular remodeling, influences the formation of post-hypoxic structural changes in the newborn brain and is synergistically closely related to neurotrophic factors, being an inhibitor of apoptosis processes, which are important for lesions of the central nervous system in newborns of various types of gestational age, having suffered both acute asphyxia at birth and chronic intrauterine hypoxia. VEGF has been little studied in premature newborns, which are at high risk for the formation of intraventricular hemorrhage and periventricular leukomalacia.Aim. To study changes in the serum concentration of VEGF, its role in the pathogenesis of severe hypoxic-ischemic lesions of the central nervous system in premature newborns of various gestational ages, as well as to determine its prognostic significance for the formation of severe structural brain lesions.Materials and methods. We observed 120 children with a gestational age from 25 to 36 weeks. The children were divided into 4 groups according to changes to neurosonography data. Determination of protein level was carried out by enzyme immunoassay.Results and conclusion. With the formation of ischemic and combined (intraventricular hemorrhage and periventricular leukomalacia) forms of post-hypoxic changes in the brain in newborns, by 5–7th days of life the concentration of VEGF significantly decreased compared to the test on the 1st day of life, and by the 4th week of life it decreased in 4 times in case of combined lesions. VEGF cannot be used as a marker of damage in the acute period (up to 5 days of life), since its initial levels in the blood serum do not differ significantly from those in the control group. However, a decrease in its concentration by the end of the 1st week of life makes it possible to reliably predict the formation of post-hypoxic changes in the brain. A decrease in the level of VEGF in the blood serum in premature newborns with structural changes according to neurosonography by the 4th week of life coincides with the timing of the formation of gliotic changes, which significantly affects the developmental prognosis of the examined children","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"12 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138603089","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-8-13
O. Suetina, N. E. Kravchenko
Background. Nociceptive and neuropathic pains are characteristic of oncological diseases and can be complicated by a psychogenic component, the conditions for the formation of which in juvenile cancer patients are poorly studied.Aim. A clinical analysis of a psychogenic pain symptom complex acting in isolation or as a component of a pain disorder with somatic prerequisites.Materials and methods. Using the clinical and psychopathological method, 60 patients aged 10–17 years undergoing treatment in an oncological hospital were studied.Results and conclusion. Psychogenic pain is a component of polymorphic psychogenic education (nosogenic reaction), it develops in children with a special characterological warehouse when they get into a situation of hospital stress.
{"title":"On the question of the features of pain syndrome in oncopediatric practice","authors":"O. Suetina, N. E. Kravchenko","doi":"10.17650/2073-8803-2023-18-2-3-8-13","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-8-13","url":null,"abstract":"Background. Nociceptive and neuropathic pains are characteristic of oncological diseases and can be complicated by a psychogenic component, the conditions for the formation of which in juvenile cancer patients are poorly studied.Aim. A clinical analysis of a psychogenic pain symptom complex acting in isolation or as a component of a pain disorder with somatic prerequisites.Materials and methods. Using the clinical and psychopathological method, 60 patients aged 10–17 years undergoing treatment in an oncological hospital were studied.Results and conclusion. Psychogenic pain is a component of polymorphic psychogenic education (nosogenic reaction), it develops in children with a special characterological warehouse when they get into a situation of hospital stress.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"79 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138604726","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-14-21
B. A. Abusueva, M. A. Askevova, M. D. Shanavazova, B. M. Nasrutdinova, M. Bobylova, A. S. Gadzhieva
Background. Cerebral palsy is often combined with epilepsy (up to about 50 % of children). The treatment of epilepsy limits the rehabilitation of cerebral palsy, and the rehabilitation of cerebral palsy often provokes epileptic seizures. Epilepsy in children with cerebral palsy is often manifested in a form of developmental and epileptic encephalopathy with spike-and-wave activation in sleep, which is characterized by epileptiform activity according to the type of benign epileptiform patterns of childhood with a high index on the electroencephalogram (up to 100 %), severe epileptic seizures of a status course, and mental disorders by type autism-like behavior (the so-called atypical autism) and disorders of speech communication. The problem of comorbidity of cerebral palsy, epilepsy and autism remains relevant and needs further study.Aim. To study the features of autism spectrum disorder in a group of children with a combination of cerebral palsy and epilepsy.Materials and methods. We examined 100 patients aged 3–10 years with various forms of cerebral palsy, combined with epilepsy, to identify the clinical features of autism spectrum disorder. Criteria for inclusion in the study: age 3–10 years; verified diagnosis of epilepsy in combination with cerebral palsy and autism spectrum disorder; informed consent of the patient’s parents to participate in the study. Criteria for exclusion from the study: severe somatic diseases and disorders of the sense organs (in particular, kyphoscoliosis, gastrostomy and others, as well as deafness, blindness); age less than 3 or more than 10 years.Results. The average age of visiting a psychiatrist was 5.4 ± 0.5 years. The reasons for visit were: violation of the communication (76 %), decreased eye contact (75 %), lack of compassion for surrounding or adjacent animals (100 %), dysphoric disorders (77.1 %), aggression (55 %), autoaggression (40 %), phobias (90 %), impaired speech development (18 %). Perinatal brain damage was diagnosed in 100 % of cases. Epilepsy was manifested by focal motor seizures. Patients with complex treatment (drugs and pedagogical correction) have more pronounced positive dynamics compared with patients who received only drug therapy or only rehabilitation (p <0.05).Conclusion. In children with a combination of cerebral palsy and epilepsy, the cause of autism is perinatal lesions of the central nervous system, as well as the severity of motor pathology and the presence of continued epileptiform activity on the electroencephalogram. Autism in this group of children requires timely recognition and medical and pedagogical correction.
{"title":"Comorbidity of cerebral palsy and epilepsy with autism in children","authors":"B. A. Abusueva, M. A. Askevova, M. D. Shanavazova, B. M. Nasrutdinova, M. Bobylova, A. S. Gadzhieva","doi":"10.17650/2073-8803-2023-18-2-3-14-21","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-14-21","url":null,"abstract":"Background. Cerebral palsy is often combined with epilepsy (up to about 50 % of children). The treatment of epilepsy limits the rehabilitation of cerebral palsy, and the rehabilitation of cerebral palsy often provokes epileptic seizures. Epilepsy in children with cerebral palsy is often manifested in a form of developmental and epileptic encephalopathy with spike-and-wave activation in sleep, which is characterized by epileptiform activity according to the type of benign epileptiform patterns of childhood with a high index on the electroencephalogram (up to 100 %), severe epileptic seizures of a status course, and mental disorders by type autism-like behavior (the so-called atypical autism) and disorders of speech communication. The problem of comorbidity of cerebral palsy, epilepsy and autism remains relevant and needs further study.Aim. To study the features of autism spectrum disorder in a group of children with a combination of cerebral palsy and epilepsy.Materials and methods. We examined 100 patients aged 3–10 years with various forms of cerebral palsy, combined with epilepsy, to identify the clinical features of autism spectrum disorder. Criteria for inclusion in the study: age 3–10 years; verified diagnosis of epilepsy in combination with cerebral palsy and autism spectrum disorder; informed consent of the patient’s parents to participate in the study. Criteria for exclusion from the study: severe somatic diseases and disorders of the sense organs (in particular, kyphoscoliosis, gastrostomy and others, as well as deafness, blindness); age less than 3 or more than 10 years.Results. The average age of visiting a psychiatrist was 5.4 ± 0.5 years. The reasons for visit were: violation of the communication (76 %), decreased eye contact (75 %), lack of compassion for surrounding or adjacent animals (100 %), dysphoric disorders (77.1 %), aggression (55 %), autoaggression (40 %), phobias (90 %), impaired speech development (18 %). Perinatal brain damage was diagnosed in 100 % of cases. Epilepsy was manifested by focal motor seizures. Patients with complex treatment (drugs and pedagogical correction) have more pronounced positive dynamics compared with patients who received only drug therapy or only rehabilitation (p <0.05).Conclusion. In children with a combination of cerebral palsy and epilepsy, the cause of autism is perinatal lesions of the central nervous system, as well as the severity of motor pathology and the presence of continued epileptiform activity on the electroencephalogram. Autism in this group of children requires timely recognition and medical and pedagogical correction.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"6 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138602009","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 : 2023-12-04DOI: 10.17650/2073-8803-2023-18-2-3-22-30
P. L. Sokolov, N. V. Chebanenko, D. M. Mednaya
Background. In the phenotype of cerebral palsy, motor and mental disorders are often accompanied by epilepsy. Congenital epilepsy has been intensively researched in recent years. Special attention is drawn to epilepsy caused by congenital disturbance of the excitability of the neuronal membrane due to canalopathies.Aim. To analyze a large number of genes associated with the development of the cerebral palsy phenotype and distribute them according to determinable traits.Materials and methods. The results of clinical and genetic analysis of 136 cases of cerebral palsy with epilepsy are presented. The patients were divided into groups according to the syndromes according to the classification of cerebral palsy. Epileptic syndromes were divided into three groups: focal childhood epilepsy with structural brain changes and benign epileptiform discharges in electroencephalogram – 41 (30.1 %) cases, structural focal epilepsy – 37 (27.2 %) cases, epileptic encephalopathies – 58 (42.7 %) cases. Pathogenic variants in genes were confirmed by next generation sequencing Sanger methods of venous blood.Results. The performed risk analysis showed that in the presence of disorders in genes attributed to the group of regulation of the formation and functioning of the cytoskeleton, the risk of lack of remission is significantly lower than in other dominants, while abnormalities in genes attributed to the group of regulation of the function of the mitochondrial apparatus significantly increase the risks of failure to achieve remission and need in polytherapy.Conclusion. Probably, the violation of energy metabolism in the cell neutralizes the stabilization of the neuronal membrane under the action of anticonvulsants. The determinant of the formation and functioning of the cytoskeleton, according to our preliminary data, is largely associated with the formation of malformations of the brain. In this case, the refractoriness of epilepsy may be secondary and determined by the severity of structural changes in the brain
{"title":"Genetic determinism of epilepsy refractoriness in patients with congenital cerebral p","authors":"P. L. Sokolov, N. V. Chebanenko, D. M. Mednaya","doi":"10.17650/2073-8803-2023-18-2-3-22-30","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-2-3-22-30","url":null,"abstract":"Background. In the phenotype of cerebral palsy, motor and mental disorders are often accompanied by epilepsy. Congenital epilepsy has been intensively researched in recent years. Special attention is drawn to epilepsy caused by congenital disturbance of the excitability of the neuronal membrane due to canalopathies.Aim. To analyze a large number of genes associated with the development of the cerebral palsy phenotype and distribute them according to determinable traits.Materials and methods. The results of clinical and genetic analysis of 136 cases of cerebral palsy with epilepsy are presented. The patients were divided into groups according to the syndromes according to the classification of cerebral palsy. Epileptic syndromes were divided into three groups: focal childhood epilepsy with structural brain changes and benign epileptiform discharges in electroencephalogram – 41 (30.1 %) cases, structural focal epilepsy – 37 (27.2 %) cases, epileptic encephalopathies – 58 (42.7 %) cases. Pathogenic variants in genes were confirmed by next generation sequencing Sanger methods of venous blood.Results. The performed risk analysis showed that in the presence of disorders in genes attributed to the group of regulation of the formation and functioning of the cytoskeleton, the risk of lack of remission is significantly lower than in other dominants, while abnormalities in genes attributed to the group of regulation of the function of the mitochondrial apparatus significantly increase the risks of failure to achieve remission and need in polytherapy.Conclusion. Probably, the violation of energy metabolism in the cell neutralizes the stabilization of the neuronal membrane under the action of anticonvulsants. The determinant of the formation and functioning of the cytoskeleton, according to our preliminary data, is largely associated with the formation of malformations of the brain. In this case, the refractoriness of epilepsy may be secondary and determined by the severity of structural changes in the brain","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138602914","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 : 2023-06-26DOI: 10.17650/2073-8803-2023-18-1-38-45
R. Gamirova, A. A. Shaymardanova, A. Barkov, A. Rizvanov, D. Chulpanova, A. Mullagulova, V. Solovyeva
In the past few years, results from experimental and clinical studies have shown that inflammation can be both a consequence and a cause of epilepsy. Distinctive features of mesenchymal stem cells (MSCs) are their immunomodulatory and anti-inflammatory properties, which indicate promise in the field of epilepsy treatment.The article presents a review on the preclinical and clinical use of MSCs in the treatment of epilepsy, and outlines the mechanism of MSCs therapeutic action of in this disease. The authors focused on the analysis of all available in the literature clinical cases of MSCs use in the treatment of epilepsy, as well as the effectiveness and undesirable effects of therapy. The use of MSCs indeed has a significant effect in reducing the number of seizures and has a positive effect on mental functions, however, at present, this method of therapy is not ready for widespread clinical use due to the short period of observation in clinical trials and increased risks of developing immunological and oncological complications in patients.
{"title":"Treatment of epilepsy with mesenchymal stem cells: literature review","authors":"R. Gamirova, A. A. Shaymardanova, A. Barkov, A. Rizvanov, D. Chulpanova, A. Mullagulova, V. Solovyeva","doi":"10.17650/2073-8803-2023-18-1-38-45","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-38-45","url":null,"abstract":"In the past few years, results from experimental and clinical studies have shown that inflammation can be both a consequence and a cause of epilepsy. Distinctive features of mesenchymal stem cells (MSCs) are their immunomodulatory and anti-inflammatory properties, which indicate promise in the field of epilepsy treatment.The article presents a review on the preclinical and clinical use of MSCs in the treatment of epilepsy, and outlines the mechanism of MSCs therapeutic action of in this disease. The authors focused on the analysis of all available in the literature clinical cases of MSCs use in the treatment of epilepsy, as well as the effectiveness and undesirable effects of therapy. The use of MSCs indeed has a significant effect in reducing the number of seizures and has a positive effect on mental functions, however, at present, this method of therapy is not ready for widespread clinical use due to the short period of observation in clinical trials and increased risks of developing immunological and oncological complications in patients.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115745284","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 : 2023-06-26DOI: 10.17650/2073-8803-2023-18-1-52-56
A. B. Davletova, A. Y. Ryabchenko
We presented a clinical case of idiopathic autoimmune brainstem encephalitis in a 12-year-old female patient. At the onset of the disease, which developed after a respiratory infection, the clinical picture was accompanied by oculomotor and bulbar syndromes. The diagnosis of Bickerstaff brainstem encephalitis was made based on clinical diagnostic criteria and the positive effect of the course of intravenous immunoglobulin therapy. During 3 years of follow-up, there were periods of relapse of the disease, during which symptoms not typical for Bickerstaff stem encephalitis appeared. Against the background of long-term immunosuppressive therapy, there was a long-term remission of about 2 years. The clinical picture, the presence of relapses, the data of additional methods forced to reconsider the diagnosis in favor of idiopathic autoimmune brainstem encephalitis.
{"title":"Idiopathic autoimmune encephalitis with a recurrent course. A case report","authors":"A. B. Davletova, A. Y. Ryabchenko","doi":"10.17650/2073-8803-2023-18-1-52-56","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-52-56","url":null,"abstract":"We presented a clinical case of idiopathic autoimmune brainstem encephalitis in a 12-year-old female patient. At the onset of the disease, which developed after a respiratory infection, the clinical picture was accompanied by oculomotor and bulbar syndromes. The diagnosis of Bickerstaff brainstem encephalitis was made based on clinical diagnostic criteria and the positive effect of the course of intravenous immunoglobulin therapy. During 3 years of follow-up, there were periods of relapse of the disease, during which symptoms not typical for Bickerstaff stem encephalitis appeared. Against the background of long-term immunosuppressive therapy, there was a long-term remission of about 2 years. The clinical picture, the presence of relapses, the data of additional methods forced to reconsider the diagnosis in favor of idiopathic autoimmune brainstem encephalitis.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130500747","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 : 2023-06-26DOI: 10.17650/2073-8803-2023-18-1-57-64
M. Bobylova, E. I. Novyachkova, K. S. Romanovskaya, L. N. Mukhina, K. Mukhin
Despite the advances in pharmacology, there are still some patients with drug-resistant inoperable epilepsy. Individual ketogenic diet might be an effective measure to prevent seizures. A ketogenic diet must be used only after consulting a dietitian, since it has contraindications and may cause complications. This article focuses on the mechanism of action of the ketogenic diet, indications and contraindications to it, and also describes our experience of using ketogenic diet in a patient with structural focal epilepsy and a typical history of the disease, side effects of antiepileptic drugs, and low compliance of antiepileptic therapy.
{"title":"The role of the ketogenic diet in patients with epilepsy. A brief literary review and a clinical example","authors":"M. Bobylova, E. I. Novyachkova, K. S. Romanovskaya, L. N. Mukhina, K. Mukhin","doi":"10.17650/2073-8803-2023-18-1-57-64","DOIUrl":"https://doi.org/10.17650/2073-8803-2023-18-1-57-64","url":null,"abstract":"Despite the advances in pharmacology, there are still some patients with drug-resistant inoperable epilepsy. Individual ketogenic diet might be an effective measure to prevent seizures. A ketogenic diet must be used only after consulting a dietitian, since it has contraindications and may cause complications. This article focuses on the mechanism of action of the ketogenic diet, indications and contraindications to it, and also describes our experience of using ketogenic diet in a patient with structural focal epilepsy and a typical history of the disease, side effects of antiepileptic drugs, and low compliance of antiepileptic therapy.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130750821","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}
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