Pub Date : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-72-78
G. Golosnaya, T. N. Belousova, M. Novikov, N. Knyazeva, D. Y. Podkopaev, E. G. Trifonova, A. I. Makulova, Ya. Ya. Ginen, Z. A. Kozheurova, D. A. Kholichev, D. A. Politov, P. V. Baranova, N. A. Ermolenko, O. Krasnorutskaya, E. Y. Kaledina, G. P. Tukabaev, A. V. Ogurtsov, K. A. Seleznev
Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.
{"title":"Citrullinemia in a newborn: a case report","authors":"G. Golosnaya, T. N. Belousova, M. Novikov, N. Knyazeva, D. Y. Podkopaev, E. G. Trifonova, A. I. Makulova, Ya. Ya. Ginen, Z. A. Kozheurova, D. A. Kholichev, D. A. Politov, P. V. Baranova, N. A. Ermolenko, O. Krasnorutskaya, E. Y. Kaledina, G. P. Tukabaev, A. V. Ogurtsov, K. A. Seleznev","doi":"10.17650/2073-8803-2022-17-3-72-78","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-72-78","url":null,"abstract":"Inherited metabolic disorders have a specific place among cases of sudden deterioration of the newborn’s condition. Therapies have been developed for some of these disorders. Accurate verification of the diagnosis is extremely important for choosing an optimal treatment strategy. However, treatment is not always successful due to the rapid progression of symptoms. We report a case of citrullinemia diagnosed in a newborn in Vidnoye Perinatal Center.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114716675","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-63-71
A. Kotov, K. V. Firsov
Malformations of the cerebral cortex are often the causes of epilepsy. The latest changes in their classification are summarized. The description of lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, gray matter heterotopia is given. The features of epilepsy in these diseases are described. Magnetic resonance imaging scans for focal cortical dysplasia, polymicrogyria, and gray matter heterotopia are presented.
{"title":"Malformations of the cerebral cortex and epilepsy. Clinical lecture","authors":"A. Kotov, K. V. Firsov","doi":"10.17650/2073-8803-2022-17-3-63-71","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-63-71","url":null,"abstract":"Malformations of the cerebral cortex are often the causes of epilepsy. The latest changes in their classification are summarized. The description of lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, gray matter heterotopia is given. The features of epilepsy in these diseases are described. Magnetic resonance imaging scans for focal cortical dysplasia, polymicrogyria, and gray matter heterotopia are presented.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125126868","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-8-36
K. Mukhin, O. Pylaeva, M. Bobylova, N. V. Freydkova
Aim. To assess the efficacy and tolerability of lamotrigine (Sazar) for various forms of epilepsy, based on long-term experience of Svt. Luka's Association of Medical Institutions for the Diagnosis, Treatment, and Rehabilitation of Nervous System Diseases and Epilepsy. We analyzed the data obtained during 4 years (from June 2018 to August 2022).Materials and methods. We evaluated the efficacy and tolerability of Sazar in 104 patients aged 3 to 37 years (87 children and 17 adults (12 women and 5 men)); their mean age was 9.7 years. The sample included 42 males and 62 females. All of them were treated at Svt. Luka's Association of Medical Institutions for the Diagnosis, Treatment, and Rehabilitation of Nervous System Diseases and Epilepsy.The sample included patients with structural and presumably structural focal epilepsy (n = 44), focal epilepsy of unknown etiology (n = 6), genetic and presumably genetic epilepsy and epileptic encephalopathies (n = 43), idiopathic epilepsy (n = 11).Sazar was used as a monotherapy in 38 patients, whereas 66 patients received it in combination with other antiepileptic drugs (AED) (Sazar + 1 AED in 48 patients; Sazar + 2 AED in 18 patients). Two patients initially receiving polytherapy were successfully transferred to Sazar monotherapy.The dose of Sazar varied between 75 and 400 mg/day. In the majority of patients, including all children, Sazar daily dose was split into 2 portions. Three adult patients received Cazar once a day either in the evening (n = 2) or in the morning (n = 1) at a dose of 200 mg/day. The follow-up time was between 6 months and over 4 years.Results and conclusion. Therapeutic remission was achieved in 47 out of 104 patients (45.2 %) receiving Sazar. As many as 35 patients (33.6 %) demonstrated an at least 50 % reduction in seizure frequency; 22 patients had no effect (21.2 %). None of the participants developed significant aggravation.Only 9 patients (8.6 %) discontinued Caser due to its initial low efficacy, while another 8 patients (7.6 %) stopped to receive Casar because it became ineffective after 6–12 months of treatment. In general, good therapeutic effect (remission or at least 50 % reduction in seizure frequency) was achieved in 82 out of 104 patients (78.8 %). Given the fact that this study included patients with severe epilepsy, we can conclude that treatment was very effective.Casar was most effective in patients with focal epilepsy (including structural, presumably structural, structural-genetic, and that of unidentified etiology) and idiopathic generalized epilepsy.The majority of the patients (n = 94; 90.4 %) demonstrated good tolerability of Casar. Casar-associated side effects were registered in 10 patients (9.6 %). Allergic skin rash was observed in 5 cases (4.8 %) and developed during the first 2 months of therapy. Allergic reactions accounted for 50 % of all side effects and were the only reason for Casar discontinuation due to poor tolerability.Two female patients of reprod
{"title":"Lamotrigine (Sazar) in the treatment of epilepsy: four years of experience in Svt. Luka's Association of Medical institutions for the Diagnosis, Treatment, and Rehabilitation of Nervous System Diseases and Epilepsy","authors":"K. Mukhin, O. Pylaeva, M. Bobylova, N. V. Freydkova","doi":"10.17650/2073-8803-2022-17-3-8-36","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-8-36","url":null,"abstract":"Aim. To assess the efficacy and tolerability of lamotrigine (Sazar) for various forms of epilepsy, based on long-term experience of Svt. Luka's Association of Medical Institutions for the Diagnosis, Treatment, and Rehabilitation of Nervous System Diseases and Epilepsy. We analyzed the data obtained during 4 years (from June 2018 to August 2022).Materials and methods. We evaluated the efficacy and tolerability of Sazar in 104 patients aged 3 to 37 years (87 children and 17 adults (12 women and 5 men)); their mean age was 9.7 years. The sample included 42 males and 62 females. All of them were treated at Svt. Luka's Association of Medical Institutions for the Diagnosis, Treatment, and Rehabilitation of Nervous System Diseases and Epilepsy.The sample included patients with structural and presumably structural focal epilepsy (n = 44), focal epilepsy of unknown etiology (n = 6), genetic and presumably genetic epilepsy and epileptic encephalopathies (n = 43), idiopathic epilepsy (n = 11).Sazar was used as a monotherapy in 38 patients, whereas 66 patients received it in combination with other antiepileptic drugs (AED) (Sazar + 1 AED in 48 patients; Sazar + 2 AED in 18 patients). Two patients initially receiving polytherapy were successfully transferred to Sazar monotherapy.The dose of Sazar varied between 75 and 400 mg/day. In the majority of patients, including all children, Sazar daily dose was split into 2 portions. Three adult patients received Cazar once a day either in the evening (n = 2) or in the morning (n = 1) at a dose of 200 mg/day. The follow-up time was between 6 months and over 4 years.Results and conclusion. Therapeutic remission was achieved in 47 out of 104 patients (45.2 %) receiving Sazar. As many as 35 patients (33.6 %) demonstrated an at least 50 % reduction in seizure frequency; 22 patients had no effect (21.2 %). None of the participants developed significant aggravation.Only 9 patients (8.6 %) discontinued Caser due to its initial low efficacy, while another 8 patients (7.6 %) stopped to receive Casar because it became ineffective after 6–12 months of treatment. In general, good therapeutic effect (remission or at least 50 % reduction in seizure frequency) was achieved in 82 out of 104 patients (78.8 %). Given the fact that this study included patients with severe epilepsy, we can conclude that treatment was very effective.Casar was most effective in patients with focal epilepsy (including structural, presumably structural, structural-genetic, and that of unidentified etiology) and idiopathic generalized epilepsy.The majority of the patients (n = 94; 90.4 %) demonstrated good tolerability of Casar. Casar-associated side effects were registered in 10 patients (9.6 %). Allergic skin rash was observed in 5 cases (4.8 %) and developed during the first 2 months of therapy. Allergic reactions accounted for 50 % of all side effects and were the only reason for Casar discontinuation due to poor tolerability.Two female patients of reprod","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"144 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123299956","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-79-84
V. A. Bulanova, M. Bykanova, N. Kuleva
This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia of the foot, acquired the features of generalized dystonia in the 1st year from the beginning. The mutation found in proband (chr19:36229249GC>G) was not described earlier. Dystonia was insensitive to levodopa, the effect of botulinum toxin treatment was insufficient; a notable clinical result has been achieved with deep brain stimulation (DBS).
{"title":"Dystonia type 28 with early onset (DYT-KMT2B): a clinical case","authors":"V. A. Bulanova, M. Bykanova, N. Kuleva","doi":"10.17650/2073-8803-2022-17-3-79-84","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-79-84","url":null,"abstract":"This article presents a clinical observation of a patient with a rare form of primary dystonia – type 28 dystonia associated with a heterozygous mutation in the KMT2B gene (OMIM: 617284) for the first time in the Russian literature. The disease started at the age of 6 years with unilateral dystonia of the foot, acquired the features of generalized dystonia in the 1st year from the beginning. The mutation found in proband (chr19:36229249GC>G) was not described earlier. Dystonia was insensitive to levodopa, the effect of botulinum toxin treatment was insufficient; a notable clinical result has been achieved with deep brain stimulation (DBS).","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121150272","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-43-54
N. V. Chebanenko, P. L. Sokol, A. G. Prityko
Background. The problem of congenital cerebral palsy (CP) is relevant due to the limited complexity of habilitation and social adaptation of such patients. The genetic aspects of the pathogenesis of the disease are being actively studied. CP is often accompanied by epilepsy, which is characterized by refractoriness.Aim. To analyze the clinical, genetic and neuroimaging aspects of this pathology in CP patients.Materials and methods. The study included 136 patients with CP. Genetic studies were carried out on venous blood material using NGS and Sanger trio methods. The distribution of genes into groups of determinants was carried out.Results. In 136 patients, 91 genes with pathogenic variants were found. There were more of them in the determinant groups CS (regulation of cytoskeleton formation and functioning), ENM (regulation of neuronal membrane excitability), CMTR (control of chromatin modifications, transcription and replication processes), NTS (regulation of neurotransmitter metabolism and synapse functioning). The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM): certain genes corresponded to each degree of motor deficiency. This specificity was less pronounced in the ENM group. The largest number of cases of abnormalities in the structure of the brain was in the CMTR (control of chromatin modifications, transcription and replication processes), CS (regulation of the formation and functioning of the cytoskeleton) and ENM (regulation of the excitability of the neuronal membrane) groups. The RMF group (regulation of the functions of the mitochondrial apparatus) was characterized by the highest resistance to epilepsy. In cases from the group with the canalopathy genes (ENM), the epileptic process was not the most refractory.Conclusions. According to the contribution to the pathogenesis of CP with epilepsy, the distribution of determinants for the provision of excitability and conduction of the nervous tissue (ENM and NTS), the regulation of neuroontogenesis processes (NOG and CMTR), and the predetermination of enzymatic defects leading to storage diseases (GSD) are permissible. The determinant ENM is responsible for both the formation of motor deficits and the formation of the epileptic process. At the same time, its influence on motor deficit is nonspecific, and the degree of refractoriness of the epileptic process largely determines the determinant of mitochondrial function regulation.
{"title":"Congenital cerebral palsy with epilepsy: clinical and genetic comparisons","authors":"N. V. Chebanenko, P. L. Sokol, A. G. Prityko","doi":"10.17650/2073-8803-2022-17-3-43-54","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-43-54","url":null,"abstract":"Background. The problem of congenital cerebral palsy (CP) is relevant due to the limited complexity of habilitation and social adaptation of such patients. The genetic aspects of the pathogenesis of the disease are being actively studied. CP is often accompanied by epilepsy, which is characterized by refractoriness.Aim. To analyze the clinical, genetic and neuroimaging aspects of this pathology in CP patients.Materials and methods. The study included 136 patients with CP. Genetic studies were carried out on venous blood material using NGS and Sanger trio methods. The distribution of genes into groups of determinants was carried out.Results. In 136 patients, 91 genes with pathogenic variants were found. There were more of them in the determinant groups CS (regulation of cytoskeleton formation and functioning), ENM (regulation of neuronal membrane excitability), CMTR (control of chromatin modifications, transcription and replication processes), NTS (regulation of neurotransmitter metabolism and synapse functioning). The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM): certain genes corresponded to each degree of motor deficiency. This specificity was less pronounced in the ENM group. The largest number of cases of abnormalities in the structure of the brain was in the CMTR (control of chromatin modifications, transcription and replication processes), CS (regulation of the formation and functioning of the cytoskeleton) and ENM (regulation of the excitability of the neuronal membrane) groups. The RMF group (regulation of the functions of the mitochondrial apparatus) was characterized by the highest resistance to epilepsy. In cases from the group with the canalopathy genes (ENM), the epileptic process was not the most refractory.Conclusions. According to the contribution to the pathogenesis of CP with epilepsy, the distribution of determinants for the provision of excitability and conduction of the nervous tissue (ENM and NTS), the regulation of neuroontogenesis processes (NOG and CMTR), and the predetermination of enzymatic defects leading to storage diseases (GSD) are permissible. The determinant ENM is responsible for both the formation of motor deficits and the formation of the epileptic process. At the same time, its influence on motor deficit is nonspecific, and the degree of refractoriness of the epileptic process largely determines the determinant of mitochondrial function regulation.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"120 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114551318","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-37-42
M. Panteleeva
Background. Proximal spinal muscular atrophy 5q (5q-SMA) is a severe autosomal recessive neuromuscular disorder characterized by progressive flaccid paralysis and muscular atrophy caused by degeneration of α-motor neurons in the anterior horns of the spinal cord resulted from mutations in the SMN1 gene encoding the survival motor neuron (SMN) protein. These patients have pronounced limitations of motor activity and their life expectancy is between several weeks and several decades. The development and implementation of causal therapy improved the quality of life and increased life expectancy of SMA patients. Nusinersen is one of the first drugs approved for SMA in the Russian Federation. It is an antisense oligonucleotide drug that increases the production of full-length SMN protein.Aim. To confirm the efficacy and safety of Nusinersen in children with type I–III SMA from Moscow region.Materials and methods. A total of 22 patients with type I–III SMA have been receiving Nusinersen since 2020. Treatment outcomes were evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in children with type I SMA and Hammersmith Functional Motor Scale Expanded (HFMSE) in children with type II–III SMA.Results. All patients completed the stage of loading doses, including 1 patient treated for 5 years (18 injections), 3 patients treated for 3 years (12 injections), 10 patients treated for 2 years (9 injections), 4 patients treated for more than 1 year (6 injections), and 4 patients treated for less than 1 year (5 injections). Patients with type I SMA demonstrated increased scores after one year of therapy. Patients with type I–III SMA also had some improvement and higher HFMSE after loading doses followed by positive dynamics after 2 and 3 years of therapy.This article also contains cases that confirm the need of early treatment initiation immediately after the diagnosis.Conclusions. We corroborated the efficacy and safety of Nusinersen in routine clinical practice for children with different types of SMA.
{"title":"Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region","authors":"M. Panteleeva","doi":"10.17650/2073-8803-2022-17-3-37-42","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-37-42","url":null,"abstract":"Background. Proximal spinal muscular atrophy 5q (5q-SMA) is a severe autosomal recessive neuromuscular disorder characterized by progressive flaccid paralysis and muscular atrophy caused by degeneration of α-motor neurons in the anterior horns of the spinal cord resulted from mutations in the SMN1 gene encoding the survival motor neuron (SMN) protein. These patients have pronounced limitations of motor activity and their life expectancy is between several weeks and several decades. The development and implementation of causal therapy improved the quality of life and increased life expectancy of SMA patients. Nusinersen is one of the first drugs approved for SMA in the Russian Federation. It is an antisense oligonucleotide drug that increases the production of full-length SMN protein.Aim. To confirm the efficacy and safety of Nusinersen in children with type I–III SMA from Moscow region.Materials and methods. A total of 22 patients with type I–III SMA have been receiving Nusinersen since 2020. Treatment outcomes were evaluated using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in children with type I SMA and Hammersmith Functional Motor Scale Expanded (HFMSE) in children with type II–III SMA.Results. All patients completed the stage of loading doses, including 1 patient treated for 5 years (18 injections), 3 patients treated for 3 years (12 injections), 10 patients treated for 2 years (9 injections), 4 patients treated for more than 1 year (6 injections), and 4 patients treated for less than 1 year (5 injections). Patients with type I SMA demonstrated increased scores after one year of therapy. Patients with type I–III SMA also had some improvement and higher HFMSE after loading doses followed by positive dynamics after 2 and 3 years of therapy.This article also contains cases that confirm the need of early treatment initiation immediately after the diagnosis.Conclusions. We corroborated the efficacy and safety of Nusinersen in routine clinical practice for children with different types of SMA.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"50 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114708388","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 : 2022-12-17DOI: 10.17650/2073-8803-2022-17-3-55-62
A. A. Psyanchin, M. Bobylova, T. Z. Yakupov
Sleep disorder is one of the prominent manifestations of Angelman syndrome. The exact causes are unknown and methods of correction are difficult. The literature review is devoted to studies of the pathogenesis of sleep disorders in Angelman syndrome (the effects of gene function in 15q11–q13 deletion, findings in polysomnography, video-EEG sleep monitoring, laboratory data), on the basis of which recommendations for the correction of dyssomnia, including methods of behavioral therapy, are given.
{"title":"Sleep disorder in Angelman syndrome: causes, mechanisms and methods of correction. Literature review","authors":"A. A. Psyanchin, M. Bobylova, T. Z. Yakupov","doi":"10.17650/2073-8803-2022-17-3-55-62","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-3-55-62","url":null,"abstract":"Sleep disorder is one of the prominent manifestations of Angelman syndrome. The exact causes are unknown and methods of correction are difficult. The literature review is devoted to studies of the pathogenesis of sleep disorders in Angelman syndrome (the effects of gene function in 15q11–q13 deletion, findings in polysomnography, video-EEG sleep monitoring, laboratory data), on the basis of which recommendations for the correction of dyssomnia, including methods of behavioral therapy, are given.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"349 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131397624","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 : 2022-09-13DOI: 10.17650/2073-8803-2022-17-2-61-64
K. V. Makeeva, A. A. Makarova, A. A. Usynina
Perinatal stroke and, in particular, intracranial hemorrhage in fetus refer to topical issues of modern perinatology and perinatal neurology because of diagnostic challenges and uncertain prognosis. The severity of outcome in intracranial hemorrhage in fetus depends on its localization and affected area. We report a case of fetal stroke in а newborn. In the patient, initial minimal clinical signs were accompanied by pathological changes detected by visual diagnostic methods and electroencephalography. This makes prognosis more challenging and requires the vigilance of neonatologists and pediatric neurologists.
{"title":"Perinatal stroke (a case report)","authors":"K. V. Makeeva, A. A. Makarova, A. A. Usynina","doi":"10.17650/2073-8803-2022-17-2-61-64","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-61-64","url":null,"abstract":"Perinatal stroke and, in particular, intracranial hemorrhage in fetus refer to topical issues of modern perinatology and perinatal neurology because of diagnostic challenges and uncertain prognosis. The severity of outcome in intracranial hemorrhage in fetus depends on its localization and affected area. We report a case of fetal stroke in а newborn. In the patient, initial minimal clinical signs were accompanied by pathological changes detected by visual diagnostic methods and electroencephalography. This makes prognosis more challenging and requires the vigilance of neonatologists and pediatric neurologists.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122500638","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 : 2022-09-13DOI: 10.17650/2073-8803-2022-17-2-47-54
A. Shchetinina, V. P. Ivanov, A. V. Kim, G. Ivanova, V. Malko, T. Alekseeva
Recently, there is a growing number of publications about the complicated course of the COVID-19 in children. The literature describes only a few cases of acute cerebrovascular diseases. In the case described in this paper, an 11‑year-old boy presented with COVID-19 complicated by an ischemic stroke. Moderate ischemic stroke (pedNIHSS 14 points) occurred on the 7th day after infection with the SARS-CoV-2 and the background of the multisystem inflammatory syndrome. It has started with the left hemiplegia, hemianesthesia, central-type facial moderate palsy, and pseudobulbar palsy. Focal brain ischemia in the right hemisphere brain and occlusion of the right middle cerebral artery was confirmed by neuroimaging data. The treatment observed regression of neurological symptoms: there were minimal movements in his left arm and leg, facial muscles, also improved gulping and speech. After 1.5 months, the stroke was provided clinical examination: no markers predisposing to hypercoagulability or a prothrombotic state, as well as markers of systemic diseases. According to neuroimaging data, was occurred recanalization of occluded middle cerebral artery, was postischemic changes. This case shows the possibility of stroke against the background of COVID-19 in children without somatic problems and makes the doctor more vigilant during the treatment of COVID-19.
{"title":"Ischemic stroke in a pediatric patient: complication of the course of COVID-19 (clinical case and literature review)","authors":"A. Shchetinina, V. P. Ivanov, A. V. Kim, G. Ivanova, V. Malko, T. Alekseeva","doi":"10.17650/2073-8803-2022-17-2-47-54","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-47-54","url":null,"abstract":"Recently, there is a growing number of publications about the complicated course of the COVID-19 in children. The literature describes only a few cases of acute cerebrovascular diseases. In the case described in this paper, an 11‑year-old boy presented with COVID-19 complicated by an ischemic stroke. Moderate ischemic stroke (pedNIHSS 14 points) occurred on the 7th day after infection with the SARS-CoV-2 and the background of the multisystem inflammatory syndrome. It has started with the left hemiplegia, hemianesthesia, central-type facial moderate palsy, and pseudobulbar palsy. Focal brain ischemia in the right hemisphere brain and occlusion of the right middle cerebral artery was confirmed by neuroimaging data. The treatment observed regression of neurological symptoms: there were minimal movements in his left arm and leg, facial muscles, also improved gulping and speech. After 1.5 months, the stroke was provided clinical examination: no markers predisposing to hypercoagulability or a prothrombotic state, as well as markers of systemic diseases. According to neuroimaging data, was occurred recanalization of occluded middle cerebral artery, was postischemic changes. This case shows the possibility of stroke against the background of COVID-19 in children without somatic problems and makes the doctor more vigilant during the treatment of COVID-19.","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"1006 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123108862","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 : 2022-09-13DOI: 10.17650/2073-8803-2022-17-2-37-46
M. Bobylova, O. V. Konurina, N. A. Borovikova, V. A. Chadaev
1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.Objective: to study the clinical and electroencephalographic picture of the disease.We have analyzed 3 cases (male patients from 2 to 6 years old), including anamnesis of life and disease, electroencephalography data in dynamics and genetic analysis data.All three patients are united by a combination of epilepsy, mental retardation and cerebral palsy-like movement disorders. The epilepsy manifestations varied from severe with absolutely pharmacoresistant epileptic spasms (cases 1 and 2) to mild course with febrile seizures only (case 3). This is probably due to the presence of a shorter mutation in patient 3. Cases 1 and 2 had epileptic encephalopathy, epilepsy with continuing epileptiform discharges on the EEG and a gross delay in speech and mental development. These patients could not speak and not understand the speech addressed, do not follow instructions. Patient 3’ self-care and play activities are developed by age, speech understanding is fully formed, but there is a complete absence of expressive speech.1p36 deletion syndrome is a developmental and epileptic encephalopathy.
{"title":"Epileptic encephalopathy caused by 1p36 deletion: literature review and case series","authors":"M. Bobylova, O. V. Konurina, N. A. Borovikova, V. A. Chadaev","doi":"10.17650/2073-8803-2022-17-2-37-46","DOIUrl":"https://doi.org/10.17650/2073-8803-2022-17-2-37-46","url":null,"abstract":"1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.Objective: to study the clinical and electroencephalographic picture of the disease.We have analyzed 3 cases (male patients from 2 to 6 years old), including anamnesis of life and disease, electroencephalography data in dynamics and genetic analysis data.All three patients are united by a combination of epilepsy, mental retardation and cerebral palsy-like movement disorders. The epilepsy manifestations varied from severe with absolutely pharmacoresistant epileptic spasms (cases 1 and 2) to mild course with febrile seizures only (case 3). This is probably due to the presence of a shorter mutation in patient 3. Cases 1 and 2 had epileptic encephalopathy, epilepsy with continuing epileptiform discharges on the EEG and a gross delay in speech and mental development. These patients could not speak and not understand the speech addressed, do not follow instructions. Patient 3’ self-care and play activities are developed by age, speech understanding is fully formed, but there is a complete absence of expressive speech.1p36 deletion syndrome is a developmental and epileptic encephalopathy. ","PeriodicalId":196950,"journal":{"name":"Russian Journal of Child Neurology","volume":"48 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126347243","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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