Journal of Pediatric Epilepsy最新文献_第5页

Patient Characteristics Associated with Seizure Freedom after Vagus Nerve Stimulation in Pediatric Intractable Epilepsy: An Analysis of “Super-Responders” 小儿难治性癫痫迷走神经刺激后与癫痫发作自由相关的患者特征:“超级应答者”分析

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Journal of Pediatric Epilepsy Pub Date : 2021-11-16 DOI: 10.1055/s-0041-1739489

Goichiro Tamura, W. Lo, I. Yau, Kerry A. Vaughan, C. Go, W. Singleton, David Hazon, Han Yan, H. Otsubo, E. Donner, J. Rutka, G. Ibrahim

{"title":"Patient Characteristics Associated with Seizure Freedom after Vagus Nerve Stimulation in Pediatric Intractable Epilepsy: An Analysis of “Super-Responders”","authors":"Goichiro Tamura, W. Lo, I. Yau, Kerry A. Vaughan, C. Go, W. Singleton, David Hazon, Han Yan, H. Otsubo, E. Donner, J. Rutka, G. Ibrahim","doi":"10.1055/s-0041-1739489","DOIUrl":"https://doi.org/10.1055/s-0041-1739489","url":null,"abstract":"Abstract Clinical responses to vagus nerve stimulation (VNS) therapy for intractable epilepsy can be unpredictable, and factors that predict response to therapy are elusive. Minority of children undergoing VNS achieve seizure freedom. The current study aimed to characterize this exceptional patient population, defined as “super-responders” (SRs). Retrospective data were collected from 150 children who underwent VNS at a single pediatric institution. The patients' mean age at VNS device implantation was 12.0 years (range, 3.09–17.9 years). Ten SRs (6.7%) were identified who achieved and maintained seizure freedom for longer than 1 year following implantation. The interval between epilepsy onset and VNS device implantation was significantly shorter in SRs than in the other children (mean epilepsy duration 5.72 vs. 8.44 years, respectively; p = 0.032). SRs also had a significantly shorter proportion of life with epilepsy compared with the other children (mean ratio of epilepsy duration to age at implantation 0.52 vs. 0.71, respectively; p = 0.023). SRs reported their seizure freedom relatively early (six patients within 6 months and all patients within 12 months after implantation) at relatively low device settings (mean output current 0.81 mA at their last follow-up). Compared with conventional models, responsive VNS models with autostimulation features did not increase the ratio of SRs. No other clinical or imaging characteristic difference between SRs and the other children was found in this cohort. The current study showed a significant association between shorter epilepsy duration and shorter proportion of life with epilepsy and seizure freedom after VNS.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"60 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80889213","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}

引用次数: 1

Electroencephalogram Abnormalities and Epilepsy in Autism Spectrum Disorders: Clinical and Electroencephalogram Findings 自闭症谱系障碍的脑电图异常和癫痫:临床和脑电图发现

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Journal of Pediatric Epilepsy Pub Date : 2021-10-29 DOI: 10.1055/s-0041-1736557

Fatma Hancı, Sevim Türay, Y. Öztürk, N. Kabakuş

{"title":"Electroencephalogram Abnormalities and Epilepsy in Autism Spectrum Disorders: Clinical and Electroencephalogram Findings","authors":"Fatma Hancı, Sevim Türay, Y. Öztürk, N. Kabakuş","doi":"10.1055/s-0041-1736557","DOIUrl":"https://doi.org/10.1055/s-0041-1736557","url":null,"abstract":"Abstract It has been known for several decades that epilepsy and autism spectrum disorders (ASD) are related to each other. Epilepsy frequently accompanies ASD. The purpose of this study was to investigate relationship between clinical and electroencephalogram (EEG) findings in ASD patients and to identify EEG characteristics that may create a disposition to epilepsy in ASD by examining differences in clinical and EEG findings between patients diagnosed with ASD without epilepsy and ASD with epilepsy. A total of 102 patients aged 2 to 18 years and diagnosed with ASD based on Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) diagnostic criteria between January 2017 and June 2019 were included in the study. Patients were assigned into two groups: (1) ASD with epilepsy and (2) ASD without epilepsy. Clinical findings were retrieved from patients' files, and EEG findings from first EEG records in the EEG laboratory at the time of diagnosis. EEG findings were defined as central, parietal, frontal, temporal, or generalized, depending on the location of rhythmic discharges. The incidence of epilepsy in our ASD patients was 33.7% and that of febrile convulsion was 4%. Generalized motor seizures were the most common seizure type. Epileptic discharges most commonly derived from the central and frontal regions. These abnormalities, especially frontal and central rhythmic discharges, may represent a precursor for the development of epilepsy in ASD patients.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"407 9","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72448293","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}

引用次数: 0

Clinical Predictive Factors of Pathological EEG in Children with Febrile Seizures and Their Association with Subsequent Epileptic Seizures 儿童热性惊厥病理性脑电图的临床预测因素及其与后续癫痫发作的关系

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Journal of Pediatric Epilepsy Pub Date : 2021-09-27 DOI: 10.1055/s-0041-1736214

K. Kchaou, I. Kammoun, S. Chakroun, A. Haddar, K. Masmoudi

{"title":"Clinical Predictive Factors of Pathological EEG in Children with Febrile Seizures and Their Association with Subsequent Epileptic Seizures","authors":"K. Kchaou, I. Kammoun, S. Chakroun, A. Haddar, K. Masmoudi","doi":"10.1055/s-0041-1736214","DOIUrl":"https://doi.org/10.1055/s-0041-1736214","url":null,"abstract":"Abstract The objective of this study was to identify clinical parameters predicting either a pathological EEG or a subsequent epileptic seizure (SES), based on the relation between paroxysmal EEG abnormalities and clinical features in children who presented at least one febrile seizure (FS). We collected data of children who presented to our department during the period 2013 to 2018 for EEG recording as part of their febrile seizure assessment. Only children aged between 1 month to 5 years were included. Both the clinical and EEG data were retrospectively collected and statistically studied. We performed a detailed analysis of the EEG recordings. SES was identified for patients with sufficient follow-up. A total of 120 children were included in the study, of whom 48% had EEG abnormalities. Psychomotor retardation (p = 0.002), completion of an EEG within 7 days of the last FS (p = 0.046), and late age (> 3 years) of the first FS onset (p = 0.021) were significantly associated with a pathological EEG. In multivariate analysis, performing early EEG (< 7 days from the last FS) (odds ratio [OR]: 2.35; p = 0.043; confidence interval [CI]: 1.028–5.375) and psychomotor retardation (OR: 4.19; p = 0.008; CI: 1.46–12) were independent predictors of a pathological EEG. Of 120 patients, 45 had a follow-up. However, only 10 (22.22%) had SES. Children with SES tended more to have a psychomotor delay, compared with children without SES (50% vs. 14.28%, p = 0.029). Moreover, the percentage of initial abnormal EEG in patients with SES was significantly higher than those without SES (70% vs. 34.28%, p = 0.05). Even though some FS characteristics predict EEG abnormalities, they are not always associated with SES. We highlight the importance of performing an EEG in the group of children who had both FS and psychomotor retardation. This is most likely the group at the highest risk of developing epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"30 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76945787","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}

引用次数: 0

Assessment of Parental Quality of Life in Febrile Seizures Using Pediatric Quality of Live Inventory Parental Report 应用儿科生活质量问卷父母报告评估热性惊厥患儿的父母生活质量

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Journal of Pediatric Epilepsy Pub Date : 2021-08-31 DOI: 10.1055/s-0041-1733954

G. Octavius, Cindy Virliani, A. Juliansen

{"title":"Assessment of Parental Quality of Life in Febrile Seizures Using Pediatric Quality of Live Inventory Parental Report","authors":"G. Octavius, Cindy Virliani, A. Juliansen","doi":"10.1055/s-0041-1733954","DOIUrl":"https://doi.org/10.1055/s-0041-1733954","url":null,"abstract":"Abstract Febrile seizure (FS) is the most common convulsive disorder in children with FS prevalence in Indonesia reaching 2 to 4% in 2008. Although this entity has a good prognosis, it often brings panic, fear, and anxiety to the parents. This seemingly benign condition might lead to changes in family structures resulting in adverse effects on the family's daily lives and affect their overall quality of life (QoL). This study evaluates the QoL of parents whose children have FS. A cross-sectional study done in 47 parents whose children had a FS between ages 1 and 4 years from January 2020 to May 2020 and who were evaluated at the Siloam General Hospital, Lippo Village. Parents were asked to fill in Pediatric Quality of Life Questionnaire parent proxy. Data normality was analyzed using the Shapiro–Wilk's test and the significant impact of parents' QoL using the chi-square and independent t-tests. From a total of 47 parents, 30 (63.8%) parents had children with simple FS and 17 (36.2%) parents had children with complex FS. Parents whose children were in the age group of 1 year to 1 year 11 months had the best mean score of 79.64 (12.17) compared with other age groups. In the subset of 3 to 4 years old, the daily activities domain was significantly affected (p-value = 0.3). Parents with a lower educational level had a higher mean score of 76.53 (14.42) than parents who had a higher educational level, with a total mean of 79.88 (11.85), particularly with the highest mean score of 100 in the communication domain. The occurrence of FSs in children affected their parents' QoL in almost all domains in the Pediatric Quality of Life Inventory questionnaire.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"60 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90271117","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}

引用次数: 0

Quantitative Electroencephalogram in Pediatric Intensive Care Unit in Three Different Clinical Scenarios 三种不同临床情况下儿科重症监护病房的定量脑电图

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Journal of Pediatric Epilepsy Pub Date : 2021-08-24 DOI: 10.1055/s-0041-1733858

A. Yetimakman, E. Kıral

{"title":"Quantitative Electroencephalogram in Pediatric Intensive Care Unit in Three Different Clinical Scenarios","authors":"A. Yetimakman, E. Kıral","doi":"10.1055/s-0041-1733858","DOIUrl":"https://doi.org/10.1055/s-0041-1733858","url":null,"abstract":"Abstract Although clinical judgement and sedation scales are primarily used in intensive care units (ICUs) to manage sedation, adjunctive data are needed to direct therapy with sedative and hypnotic agents to prevent side effects and long-term sequelae. In this report, we describe three cases where we used quantitative electroencephalogram (qEEG) data in a pediatric ICU (PICU); to manage these specific clinical situations and to identify the limitations of the qEEG data, two patients were admitted for post–cardiac arrest care and the third was admitted for status epilepticus. In post–cardiac arrest patients, qEEG was mainly used for monitoring depth of sedation and drug titration. Unnecessary use of high-drug doses was prevented, and monitoring also helped to guide clinical intervention for the management of seizure activity. In the patient with status epilepticus, qEEG data on burst suppression and depth of sedation were used. In this report, we describe three different cases where we used qEEG data in a PICU, to give insight on the use of data in specific clinical situations and to describe the limitations of the qEEG data monitoring system.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"34 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2021-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74969195","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}

引用次数: 1

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 中性粒细胞与淋巴细胞比值、红细胞分布宽度和平均血小板体积在预测热性惊厥和区分热性惊厥类型中的作用

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Journal of Pediatric Epilepsy Pub Date : 2021-08-13 DOI: 10.1055/s-0041-1733904

Beril Dilber, G. P. Reis, C. C. Kolaylı, A. Cansu

{"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":"65 1","pages":""},"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}

引用次数: 1

Electrical Status Epilepticus during Sleep and Evaluating the Electroencephalogram 睡眠中癫痫持续电状态及脑电图评估

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Journal of Pediatric Epilepsy Pub Date : 2021-07-19 DOI: 10.1055/s-0041-1731412

Michael Drees, Neil Kulkarni, J. Vidaurre

引用次数: 0

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep IL1RAPL1基因缺失与女性发育迟缓和睡眠持续峰波的关系

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Journal of Pediatric Epilepsy Pub Date : 2021-07-13 DOI: 10.1055/s-0041-1731816

Evan Jiang, M. Fitzgerald, K. Helbig, Ethan M. Goldberg

{"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":"79 1","pages":""},"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}

引用次数: 1

Factors Predicting the Recurrence of Febrile Seizure in Siloam General Hospital: A Descriptive Analysis 西罗亚总医院热性惊厥复发的预测因素:描述性分析

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Journal of Pediatric Epilepsy Pub Date : 2021-06-24 DOI: 10.1055/s-0041-1731037

G. Octavius, Tan G. H. Handoko, C. L. Budiputri, M. Muljono, A. Juliansen

{"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":"216 1","pages":""},"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}

引用次数: 0

Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation 早期婴儿硫胺素转运蛋白-2缺乏与癫痫痉挛-一个新的突变表型谱

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Journal of Pediatric Epilepsy Pub Date : 2021-06-24 DOI: 10.1055/s-0041-1731018

R. Mishra, Sunita Bijarnia-Mahay, Praveen Kumar, T. Buxi, S. Kulshrestha, J. Kuldeep, D. Gupta, Renu Saxena, R. Sabharwal

{"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":"117 1","pages":"168 - 174"},"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}

引用次数: 0