Abstract The neutrophil-to-lymphocyte ratio (NLR), red blood cell distribution width (RDW), platelet count (PLT), and mean platelet volume (MPV)/platelet ratio (MPR) are commonly known inflammatory markers measured by a routine peripheral blood test that have been studied in patients with febrile seizures (FS) and may be useful for the classification of FS types. The aim of this study was to investigate the relationship between FS and inflammatory markers including MPR, RDW, and NLR and also to determine the diagnostic ability of these parameters to identify FS by comparing patients with and without FS, and by comparing patients with FS to their FS types (simple febrile seizure or complex febrile seizure [SFS or CFS]). The study included a total of 537 children aged 6 to 60 months who presented to the emergency service with FS. The FS group was divided into two subgroups based on the type of seizure, SFS, and CFS. MPR, NLR, and RDW predicted a 1.7 (odds ratio [OR], 95% confidence interval [CI]: 1.19–2.45), 1.94 (OR, 95% CI: 1.35–2.79), and 1.8 (OR, 95% CI: 1.25–2.59) times higher risk of FS, respectively. NLR and RDW predicted a 2.64 (OR, 95% CI: 1.17–4.85) and 2.34 (OR, 95% CI: 1.14–4.44) times higher risk of recurrent SFS, respectively. In patients with CFS, NLR ≥ 1.806 had a 3.64 times (OR, 95% CI: 1.83–7.21) and RDW ≥14.55 had a 3.34 times (OR, 95% CI: 1.67–6.65) higher risk of recurrent FS. The results indicated that MPV, NLR, and RDW differentiated not only SFS from CFS but also FS from fever without seizure. The increase in RDW and NLR values and their diagnostic values in patients with recurrent FS and the diagnostic value of these parameters in predicting CFS suggest that NLR and RDW could be effective, practical, and discriminative predictors of FS.
{"title":"The Role of Neutrophil-to-Lymphocyte Ratio, Red Blood Cell Distribution Width, and Mean Platelet Volume in Predicting Febrile Seizures and Differentiating Febrile Seizure Types","authors":"Beril Dilber, G. P. Reis, C. C. Kolaylı, A. Cansu","doi":"10.1055/s-0041-1733904","DOIUrl":"https://doi.org/10.1055/s-0041-1733904","url":null,"abstract":"Abstract The neutrophil-to-lymphocyte ratio (NLR), red blood cell distribution width (RDW), platelet count (PLT), and mean platelet volume (MPV)/platelet ratio (MPR) are commonly known inflammatory markers measured by a routine peripheral blood test that have been studied in patients with febrile seizures (FS) and may be useful for the classification of FS types. The aim of this study was to investigate the relationship between FS and inflammatory markers including MPR, RDW, and NLR and also to determine the diagnostic ability of these parameters to identify FS by comparing patients with and without FS, and by comparing patients with FS to their FS types (simple febrile seizure or complex febrile seizure [SFS or CFS]). The study included a total of 537 children aged 6 to 60 months who presented to the emergency service with FS. The FS group was divided into two subgroups based on the type of seizure, SFS, and CFS. MPR, NLR, and RDW predicted a 1.7 (odds ratio [OR], 95% confidence interval [CI]: 1.19–2.45), 1.94 (OR, 95% CI: 1.35–2.79), and 1.8 (OR, 95% CI: 1.25–2.59) times higher risk of FS, respectively. NLR and RDW predicted a 2.64 (OR, 95% CI: 1.17–4.85) and 2.34 (OR, 95% CI: 1.14–4.44) times higher risk of recurrent SFS, respectively. In patients with CFS, NLR ≥ 1.806 had a 3.64 times (OR, 95% CI: 1.83–7.21) and RDW ≥14.55 had a 3.34 times (OR, 95% CI: 1.67–6.65) higher risk of recurrent FS. The results indicated that MPV, NLR, and RDW differentiated not only SFS from CFS but also FS from fever without seizure. The increase in RDW and NLR values and their diagnostic values in patients with recurrent FS and the diagnostic value of these parameters in predicting CFS suggest that NLR and RDW could be effective, practical, and discriminative predictors of FS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82913969","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}
Abstract Electrical status epilepticus during sleep (ESES) is an age-related, self-limited epileptic encephalopathy characterized by heterogeneous clinical manifestations and a specific electroencephalographic pattern of continuous spikes and waves during slow sleep. The etiology of ESES is not completely clear, although structural brain lesions, abnormal immunological markers, and genetic mutations have been associated with the syndrome. ESES was first described in 1971 and since then, the diagnostic criteria have changed multiple times. Additionally, inconsistency between authors in how to record and evaluate the electroencephalogram also leads to variability between studies. These inconsistencies hamper objectivity, comparison, and generalization. Because of this, one of the first priorities of physicians treating this condition should be defining the parameters of this disease so that cooperative building can occur.
{"title":"Electrical Status Epilepticus during Sleep and Evaluating the Electroencephalogram","authors":"Michael Drees, Neil Kulkarni, J. Vidaurre","doi":"10.1055/s-0041-1731412","DOIUrl":"https://doi.org/10.1055/s-0041-1731412","url":null,"abstract":"Abstract Electrical status epilepticus during sleep (ESES) is an age-related, self-limited epileptic encephalopathy characterized by heterogeneous clinical manifestations and a specific electroencephalographic pattern of continuous spikes and waves during slow sleep. The etiology of ESES is not completely clear, although structural brain lesions, abnormal immunological markers, and genetic mutations have been associated with the syndrome. ESES was first described in 1971 and since then, the diagnostic criteria have changed multiple times. Additionally, inconsistency between authors in how to record and evaluate the electroencephalogram also leads to variability between studies. These inconsistencies hamper objectivity, comparison, and generalization. Because of this, one of the first priorities of physicians treating this condition should be defining the parameters of this disease so that cooperative building can occur.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79260085","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}
Evan Jiang, M. Fitzgerald, K. Helbig, Ethan M. Goldberg
Abstract Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.
{"title":"IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep","authors":"Evan Jiang, M. Fitzgerald, K. Helbig, Ethan M. Goldberg","doi":"10.1055/s-0041-1731816","DOIUrl":"https://doi.org/10.1055/s-0041-1731816","url":null,"abstract":"Abstract Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80146496","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}
G. Octavius, Tan G. H. Handoko, C. L. Budiputri, M. Muljono, A. Juliansen
Abstract Febrile seizure (FS) is one of the most common pediatric neurologic disorders, affecting 2 to 5% of children between 6 months and 5 years. In 2008 to 2010, almost half of children with FS in Indonesia experienced recurrences. Various factors have been related to potential predictors for FS recurrence. However, available data reported inconsistent results. Considering its high recurrence rate, this study aimed to determine and assess the factors predicting the recurrence of FS. A cross-sectional study was done in Siloam General Hospital, Lippo Village. The study period was from December 2018 to December 2019, and data were obtained through medical records. Out of 60 participants, 41.7% had recurrent FS. No administration of rectal diazepam before admission (odds ratio [OR] = 6.42; 95% confidence interval [CI]: 1.20–34.2, p = 0.027) was a predictive factor of recurrent FS, while female sex (OR = 0.23; 95% CI: 0.64–0.80, p = 0.025) and shorter duration of the first FS (OR = 0.21; 95% CI 0.06–0.69, p = 0.008) were protective factors of recurrent FS. Identification of factors predicting the recurrence of FS is a powerful tool for clinicians. This study showed that no administration of rectal diazepam before admission was correlated with the risk of FS recurrence, while shorter duration of FS and female sex were protective factors of recurrent FS.
热性惊厥(FS)是最常见的儿童神经系统疾病之一，影响2 - 5%的6个月至5岁儿童。在2008年至2010年期间，印度尼西亚几乎有一半患有FS的儿童复发。各种因素与FS复发的潜在预测因素有关。然而，现有数据报告的结果不一致。考虑到FS的高复发率，本研究旨在确定和评估预测FS复发的因素。横断面研究在力宝村西罗亚总医院进行。研究时间为2018年12月至2019年12月，数据通过病历获取。60名参与者中，41.7%有复发性FS。入院前未直肠给予安定(优势比[OR] = 6.42;95%可信区间[CI]: 1.20 ~ 34.2, p = 0.027)是FS复发的预测因素，而女性(OR = 0.23;95% CI: 0.64-0.80, p = 0.025)，第一次FS持续时间较短(OR = 0.21;95% CI 0.06 ~ 0.69, p = 0.008)是FS复发的保护因素。识别预测FS复发的因素是临床医生的有力工具。本研究显示，入院前未使用直肠安定与FS复发风险相关，而FS持续时间较短和女性是FS复发的保护因素。
{"title":"Factors Predicting the Recurrence of Febrile Seizure in Siloam General Hospital: A Descriptive Analysis","authors":"G. Octavius, Tan G. H. Handoko, C. L. Budiputri, M. Muljono, A. Juliansen","doi":"10.1055/s-0041-1731037","DOIUrl":"https://doi.org/10.1055/s-0041-1731037","url":null,"abstract":"Abstract Febrile seizure (FS) is one of the most common pediatric neurologic disorders, affecting 2 to 5% of children between 6 months and 5 years. In 2008 to 2010, almost half of children with FS in Indonesia experienced recurrences. Various factors have been related to potential predictors for FS recurrence. However, available data reported inconsistent results. Considering its high recurrence rate, this study aimed to determine and assess the factors predicting the recurrence of FS. A cross-sectional study was done in Siloam General Hospital, Lippo Village. The study period was from December 2018 to December 2019, and data were obtained through medical records. Out of 60 participants, 41.7% had recurrent FS. No administration of rectal diazepam before admission (odds ratio [OR] = 6.42; 95% confidence interval [CI]: 1.20–34.2, p = 0.027) was a predictive factor of recurrent FS, while female sex (OR = 0.23; 95% CI: 0.64–0.80, p = 0.025) and shorter duration of the first FS (OR = 0.21; 95% CI 0.06–0.69, p = 0.008) were protective factors of recurrent FS. Identification of factors predicting the recurrence of FS is a powerful tool for clinicians. This study showed that no administration of rectal diazepam before admission was correlated with the risk of FS recurrence, while shorter duration of FS and female sex were protective factors of recurrent FS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79625129","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}
R. Mishra, Sunita Bijarnia-Mahay, Praveen Kumar, T. Buxi, S. Kulshrestha, J. Kuldeep, D. Gupta, Renu Saxena, R. Sabharwal
Abstract Epileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We reported a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.
癫痫发作是硫胺素转运体缺乏的一个常见特征，可能作为严重癫痫性脑病和混合性局灶性或全身性癫痫发作之间的临床连续体出现。由于SLC19A3基因双等位基因致病性突变引起的硫胺素代谢功能障碍综合征2 (MIM: 607483)或生物素-硫胺素反应性基底神经节病(BTBGD)是一种公认的早期婴儿脑病的病因，具有Leigh综合征样表现和不典型婴儿痉挛的不太为人所知的表型。我们报告了一个4个月大的婴儿，自1个月大以来出现进行性癫痫痉挛，精神运动迟缓和乳酸酸中毒。磁共振成像(MRI)显示双侧丘脑和基底节区、小脑、脑干、皮层和皮层下白质的信号强度发生改变。全外显子组测序鉴定出SLC19A3基因的纯合子ENST00000258403.3: C . 871g > C (p.Gly291Arg)变异。我们阐明了先证者的特征，这是与早期婴儿脑病相关的SLC19A3的上述两种亚型的合并。我们还强调了“Leigh综合征样”或“非典型婴儿痉挛”表型的非典型特征，并建议这两个独立的实体可以合并为一个临床连续体。大剂量生物素和硫胺素的治疗结果是有希望的。此外，我们报告了SLC19A3基因的一种新的致病变异。
{"title":"Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation","authors":"R. Mishra, Sunita Bijarnia-Mahay, Praveen Kumar, T. Buxi, S. Kulshrestha, J. Kuldeep, D. Gupta, Renu Saxena, R. Sabharwal","doi":"10.1055/s-0041-1731018","DOIUrl":"https://doi.org/10.1055/s-0041-1731018","url":null,"abstract":"Abstract Epileptic seizures are a frequent feature of thiamine transporter deficiency that may present as a clinical continuum between severe epileptic encephalopathy and mixed focal or generalized seizures. Thiamine metabolism dysfunction syndrome 2 (MIM: 607483) or biotin-thiamine-responsive basal ganglia disease (BTBGD) due to biallelic pathogenic mutation in the SLC19A3 gene is a well-recognized cause of early infantile encephalopathy with a Leigh syndrome-like presentation and a lesser-known phenotype of atypical infantile spasms. We reported a 4-month-old infant who presented with progressive epileptic spasms since 1 month of age, psychomotor retardation, and lactic acidosis. Magnetic resonance imaging (MRI) revealed altered signal intensities in bilateral thalamic and basal ganglia, cerebellum, brainstem, cortical and subcortical white matter. Whole exome sequencing identified a homozygous ENST00000258403.3: c.871G > C (p.Gly291Arg) variant in the SLC19A3 gene. We elucidate the features in the proband, which were an amalgamation of both the above subtypes of the SLC19A3 associated with early infantile encephalopathy. We also highlight the features which were atypical for either “Leigh syndrome-like” or “atypical infantile spasm” phenotypes and suggest that the two separate entities can be merged as a clinical continuum. Treatment outcome with high-dose biotin and thiamine is promising. In addition, we report a novel pathogenic variant in the SLC19A3 gene.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89601484","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}
Abstract This is a case presentation of a patient with microcephaly, severe developmental delay, and refractory seizures who was found to have low levels of serum serine and glycine. Exome sequencing revealed a homozygous mutation in the 3-phosphoglycerate dehydrogenase deficiency (PHGDH) gene at chromosome 1p12. Cerebrospinal fluid (CSF) serine level was subsequently found to be low in keeping with the genetic diagnosis. L-glycine and L-serine supplements were started, which led to improvement in seizure burden. In this rare condition, seizure impact and psychomotor development can improve with supplementation of L-serine and L-glycine; therefore, timely diagnosis is crucial in the management of these patients. Our case also highlighted the role of molecular genetic testing in cases where CSF sampling is difficult, when there are typical clinical features of PHGDH. PHGDH is a rare disorder but should be considered in patients with microcephaly and refractory epilepsy as supplementation with serine may be beneficial.
{"title":"Case Report of 3-Phosphoglycerate Dehydrogenase Deficiency: A Baby with Severe Microcephaly, Psychomotor Delay, and Seizures","authors":"Hafizah Salleh, Nahin Hussain, B. Rai","doi":"10.1055/s-0041-1728646","DOIUrl":"https://doi.org/10.1055/s-0041-1728646","url":null,"abstract":"Abstract This is a case presentation of a patient with microcephaly, severe developmental delay, and refractory seizures who was found to have low levels of serum serine and glycine. Exome sequencing revealed a homozygous mutation in the 3-phosphoglycerate dehydrogenase deficiency (PHGDH) gene at chromosome 1p12. Cerebrospinal fluid (CSF) serine level was subsequently found to be low in keeping with the genetic diagnosis. L-glycine and L-serine supplements were started, which led to improvement in seizure burden. In this rare condition, seizure impact and psychomotor development can improve with supplementation of L-serine and L-glycine; therefore, timely diagnosis is crucial in the management of these patients. Our case also highlighted the role of molecular genetic testing in cases where CSF sampling is difficult, when there are typical clinical features of PHGDH. PHGDH is a rare disorder but should be considered in patients with microcephaly and refractory epilepsy as supplementation with serine may be beneficial.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88406764","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}
G. Tantillo, N. Kagita, Maite LaVega-Talbott, Anuradha Singh, D. Kaufman
Abstract Norovirus is a common cause of acute gastroenteritis outbreaks worldwide. The disease can present with varying degrees of neurologic impairment from benign convulsions to rare cases of severe encephalopathy. In this article, we described a case report of a North American infant who presented with norovirus gastroenteritis, status epilepticus, severe encephalopathy, and abnormal but reversible diffusion restriction changes on magnetic resonance imaging of brain.
{"title":"Norovirus Causes Pediatric Encephalopathy and Status Epilepticus: A Case Report and Review of the Literature","authors":"G. Tantillo, N. Kagita, Maite LaVega-Talbott, Anuradha Singh, D. Kaufman","doi":"10.1055/s-0041-1725990","DOIUrl":"https://doi.org/10.1055/s-0041-1725990","url":null,"abstract":"Abstract Norovirus is a common cause of acute gastroenteritis outbreaks worldwide. The disease can present with varying degrees of neurologic impairment from benign convulsions to rare cases of severe encephalopathy. In this article, we described a case report of a North American infant who presented with norovirus gastroenteritis, status epilepticus, severe encephalopathy, and abnormal but reversible diffusion restriction changes on magnetic resonance imaging of brain.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82094469","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}
A. Bhandari, M. Gourie‐Devi, Praveen Kumar, L. Khanna
Abstract Musicogenic epilepsy is a relatively rare form of epilepsy characterized by seizures triggered by specific music experiences, with an estimated prevalence of 1/10,000,000 population. In this article, we reported a case of 12-year-old boy patient with a history of recent onset focal seizures associated with an aura of formed visual hallucinations, feeling of familiarity (déjà vu), and impending fear lasting for seconds to a minute followed by eye blinking, oral automatisms, and unresponsiveness for almost 15 minutes. These episodes, most often, were provoked by music. Video electroencephalogram (EEG) done in our institute was suggestive of reflex musicogenic epilepsy arising from the left anterior temporal lobe. Magnetic resonance imaging of the brain 3T with epilepsy protocol confirmed video EEG findings, with an abnormal signal intensity in the left hippocampal and mesial temporal lobe. Treatment included lifestyle modification and antiepileptic drugs.
{"title":"A Case of Musicogenic Epilepsy","authors":"A. Bhandari, M. Gourie‐Devi, Praveen Kumar, L. Khanna","doi":"10.1055/s-0041-1725993","DOIUrl":"https://doi.org/10.1055/s-0041-1725993","url":null,"abstract":"Abstract Musicogenic epilepsy is a relatively rare form of epilepsy characterized by seizures triggered by specific music experiences, with an estimated prevalence of 1/10,000,000 population. In this article, we reported a case of 12-year-old boy patient with a history of recent onset focal seizures associated with an aura of formed visual hallucinations, feeling of familiarity (déjà vu), and impending fear lasting for seconds to a minute followed by eye blinking, oral automatisms, and unresponsiveness for almost 15 minutes. These episodes, most often, were provoked by music. Video electroencephalogram (EEG) done in our institute was suggestive of reflex musicogenic epilepsy arising from the left anterior temporal lobe. Magnetic resonance imaging of the brain 3T with epilepsy protocol confirmed video EEG findings, with an abnormal signal intensity in the left hippocampal and mesial temporal lobe. Treatment included lifestyle modification and antiepileptic drugs.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73554370","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}
Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo
Abstract The aim of this study was to review the literature about the effect of physical activity intervention in children and adolescents with epilepsy. Articles were searched in the central electronic databases of MEDLINE, Embase, PsycAriticles, and CINAHL for the following keywords: “epilepsy,” “seizure,” “physical activity,” “physical exercise,” “exercise therapy,” “sport,” using the Boolean operator “AND” and “OR.” The quality of the selected articles was evaluated by the Physiotherapy Evidence Database scale. Out of the 22 articles selected, 18 did not involve intervention or did not have pre- and postresults and therefore were excluded from the study. The remaining four were studies from Canada and Korea which comprised two long-period interventions and were included in the analysis. Both programs demonstrated a positive effect of physical activity on variables related to psychological well-being and cognitive function. All the four articles demonstrated a lower score of quality. In conclusion, reviewed studies suggest that physical exercise program induces some benefits in children and adolescents with epilepsy. However, the noncontrolled trials and the varied analyses (quantitative vs. qualitative) make it difficult to establish a consensus about benefits of physical activity in epilepsy.
{"title":"The Benefits of Physical Activity in Children and Adolescents with Epilepsy: A Systematic Review","authors":"Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo","doi":"10.1055/s-0041-1725991","DOIUrl":"https://doi.org/10.1055/s-0041-1725991","url":null,"abstract":"Abstract The aim of this study was to review the literature about the effect of physical activity intervention in children and adolescents with epilepsy. Articles were searched in the central electronic databases of MEDLINE, Embase, PsycAriticles, and CINAHL for the following keywords: “epilepsy,” “seizure,” “physical activity,” “physical exercise,” “exercise therapy,” “sport,” using the Boolean operator “AND” and “OR.” The quality of the selected articles was evaluated by the Physiotherapy Evidence Database scale. Out of the 22 articles selected, 18 did not involve intervention or did not have pre- and postresults and therefore were excluded from the study. The remaining four were studies from Canada and Korea which comprised two long-period interventions and were included in the analysis. Both programs demonstrated a positive effect of physical activity on variables related to psychological well-being and cognitive function. All the four articles demonstrated a lower score of quality. In conclusion, reviewed studies suggest that physical exercise program induces some benefits in children and adolescents with epilepsy. However, the noncontrolled trials and the varied analyses (quantitative vs. qualitative) make it difficult to establish a consensus about benefits of physical activity in epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91002528","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}
R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari
Abstract Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl child patient was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.
{"title":"Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be?","authors":"R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari","doi":"10.1055/s-0041-1723951","DOIUrl":"https://doi.org/10.1055/s-0041-1723951","url":null,"abstract":"Abstract Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl child patient was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84623720","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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