Journal of pediatric neurology最新文献_第10页

Mitochondrial Leukoencephalopathy in a One and Half-Year-old Boy 1岁半男孩线粒体脑白质病

IF 0.2

Journal of pediatric neurology Pub Date : 2022-04-08 DOI: 10.1055/s-0042-1757195

Anish Ainapure, Shilpa D. Kulkarni, F. Gala, Payal Shah, V. Gavali

引用次数: 0

Homocystinuria Presenting as Ectopia Lentis and Thrombotic Manifestations in Two Siblings: A Case Series 同型半胱氨酸尿在两个兄弟姐妹中表现为晶状体异位和血栓性表现:一个病例系列

IF 0.2

Journal of pediatric neurology Pub Date : 2022-03-29 DOI: 10.1055/s-0042-1757624

K. Yadav, Arpita Mishra, R. Narayan, Ashutosh Kumar Singh, R. Agrawal, O. Mishra

引用次数: 0

A Novel Variant of the Short-Chain Enoyl-CoA Hydratase-1 Gene Presenting with a Mild Phenotype: The Second Case Report from India 具有轻度表型的短链烯酰辅酶A水合酶-1基因新变异:来自印度的第二例报告

IF 0.2

Journal of pediatric neurology Pub Date : 2022-03-12 DOI: 10.1055/s-0042-1751248

Suman Das, B. Ray, U. Chakraborty, Sujoy Kabiraj

引用次数: 0

Profile and Outcome of Children with Opsoclonus Myoclonus Ataxia: A Tertiary Care Hospital Experience from India 眼阵挛性肌阵挛性共济失调儿童的概况和结局:来自印度三级医院的经验

IF 0.2

Journal of pediatric neurology Pub Date : 2022-03-12 DOI: 10.1055/s-0042-1750762

Bidisha Banerjee, Ayesha Thanvi, S. M. Prabhu

{"title":"Profile and Outcome of Children with Opsoclonus Myoclonus Ataxia: A Tertiary Care Hospital Experience from India","authors":"Bidisha Banerjee, Ayesha Thanvi, S. M. Prabhu","doi":"10.1055/s-0042-1750762","DOIUrl":"https://doi.org/10.1055/s-0042-1750762","url":null,"abstract":"Abstract Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare but treatable, often paraneoplastic neuroimmunologic condition. This is a retrospective chart review of 8 patients diagnosed in the past 11 years at a tertiary care hospital. The mean age of children with OMAS was 21.2 ± 8 months. There was a female preponderance (62.5%). Median symptom duration was 24.5 days (interquartile range [IQR] 12.7; 97.5). All patients had ataxia and irritability; 6 had opsoclonus. An underlying neurogenic tumor was identified in 87.5% (⅞) of the patients by computed tomography (CT)/magnetic resonance imaging. Neuroblastoma was detected in ⅘ with normal 24-hour urinary vanillylmandelic acid and 2 had negative metaiodobenzylguanidine scan. All patients received adrenocorticotropic hormone/steroids for a median of 9.5 months (IQR 5.3; 13.5) with clonazepam. Five received intravenous immunoglobulin (IVIG), including repeated cycles in ⅘. Two received rituximab. One child with relapsing-remitting course received pulse dexamethasone and cyclophosphamide, resulting in improvement. Clonazepam restored ambulation in one with delayed diagnosis and failure of response to steroids. Six patients underwent tumor resection and four needed chemotherapies. Median follow-up was 15 months (IQR 10.7; 23.2). Mean OMAS-severity scale reduced from 10 to 1.4 in the IVIG group and 10.6 to 5.3 in those who did not receive IVIG. Cognitive delay and behavioral issues were seen in 100% treated with steroids only; 50 and 25%, respectively, treated with multimodal immunotherapy. Five had relapses, one with tumor recurrence. Thorax and abdomen CT scan was found to be a sensitive tool for tumor detection. Better motor and cognitive behavioral outcome were noted in patients who received adjunctive IVIG. Future studies on optimum investigation and treatment protocol in various resource settings are needed.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"64 1","pages":"095 - 100"},"PeriodicalIF":0.2,"publicationDate":"2022-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74269347","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

A Review of the Prevalence, Etiology, Diagnosis, and Management of Pediatric Epilepsies in India 印度儿童癫痫的患病率、病因学、诊断和治疗综述

IF 0.2

Journal of pediatric neurology Pub Date : 2022-03-10 DOI: 10.1055/s-0042-1742689

V. Kalra, V. Viswanathan, Harshuti Shah

{"title":"A Review of the Prevalence, Etiology, Diagnosis, and Management of Pediatric Epilepsies in India","authors":"V. Kalra, V. Viswanathan, Harshuti Shah","doi":"10.1055/s-0042-1742689","DOIUrl":"https://doi.org/10.1055/s-0042-1742689","url":null,"abstract":"Pediatric seizures are one of the most common neurological manifestations seen in pediatrics. Unravelling the etiology, timely and appropriate investigations followed by suitable therapies are essential for improving quality of life. During the pandemic, focused group discussions were conducted among 50 pediatric neurologists across five cities in India to gather insights on treatment practices in pediatric epilepsy and to optimize therapeutic strategies and alternative approaches for rational use of antiepileptic medications. These discussions were mainly aimed at reviewing current literature on prevalence, etiology, diagnosis, and management of epilepsy in children and subsequently rationalizing diagnostic and treatment approaches in routine clinical practice. Epileptic encephalopathies comprise of childhood epilepsy with progressive cerebral dysfunction. Genomics plays a vital role in identifying the underlying genetic associations, empowering precision therapy. Currently, the ketogenic diet has become a well-recognized modality for reducing severity of seizures. To overcome the high incidence of adverse effects due to older antiepileptic drugs, newer drugs are being developed to improve ease of use, diminish drug interactions, decrease adverse effects, and identify drugs with unique mechanisms of action. Common lacunae in practice include information gaps, educating parents, or caregivers about rational drug use and ensuring compliance to antiepileptic medications. This article discussed the consensus clinical viewpoint of expert clinicians, as well as insights on optimized treatment of pediatric epilepsies in both infancy and childhood. It also discusses aspects, like reducing drug burden, emerging therapies in the identification of the genetic basis of epilepsies, and targeted therapy alternatives, for pediatric populations in the Indian scenario.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"10 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86996095","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

Improved Sitting Balance in Children with Cerebral Palsy: Body Functions to Activity and Participation 脑瘫儿童坐位平衡改善:身体功能对活动和参与的影响

IF 0.2

Journal of pediatric neurology Pub Date : 2022-02-27 DOI: 10.1055/s-0042-1749588

Merve Akyuz, N. Dursun, Tugba Gokbel, C. Cekmece, E. Dursun

{"title":"Improved Sitting Balance in Children with Cerebral Palsy: Body Functions to Activity and Participation","authors":"Merve Akyuz, N. Dursun, Tugba Gokbel, C. Cekmece, E. Dursun","doi":"10.1055/s-0042-1749588","DOIUrl":"https://doi.org/10.1055/s-0042-1749588","url":null,"abstract":"Abstract The aim of this study is to evaluate the changes in activity and participation domains of International Classification of Functioning (ICF), Disability and Health, in children with cerebral palsy (CP) who received integrated botulinum toxin A (BoNT-A) treatment with intensive rehabilitation with a treatment goal of improved sitting balance. In this prospective observational study, 29 patients with CP (mean age: 6.7 ± 3.8 years) and the Gross Motor Function Classification System (GMFCS) levels of IV and V were included. The primary outcome measures were the mean changes from baseline to posttreatment weeks 10 to 12 of the Child and Adolescent Scale of Participation (CASP) and Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD). The modified Ashworth scale (MAS) and Tardieu scale (TS) results at 6 to 8 weeks of posttreatment were the secondary outcome measures. Statistically significant improvements in home and community participation of CASP ( p < 0.001 and 0.001), CPCHILD ( p < 0.01), MAS ( p < 0.001), and all parameters of TS ( p < 0.05) were recorded after treatment. The result of this prospective, observational study showed that the functional improvements in sitting balance by the integrated BoNT-A treatment provides positive effects on activity and participation levels of the patient and quality of life of patients and their families.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"3 1","pages":"386 - 391"},"PeriodicalIF":0.2,"publicationDate":"2022-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84200574","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

Idiopathic Toe-Walking: A Review from 1967 to 2021 特发性脚趾行走:1967年至2021年的回顾

IF 0.2

Journal of pediatric neurology Pub Date : 2022-02-14 DOI: 10.1055/s-0042-1742583

D. Sala

{"title":"Idiopathic Toe-Walking: A Review from 1967 to 2021","authors":"D. Sala","doi":"10.1055/s-0042-1742583","DOIUrl":"https://doi.org/10.1055/s-0042-1742583","url":null,"abstract":"Idiopathic toe-walking (ITW) is considered a diagnosis of exclusion for which no underlying neurological, neuromuscular, neurodevelopmental, or orthopedic condition can be identified. The purpose of this review was to examine multiple aspects of ITW: natural history, evaluation, treatment, musculoskeletal manifestations, and developmental issues through the review of studies from the initial description of condition in 1967 to the present. From a PubMed search and review of reference lists of individual articles, 64 articles were selected and reviewed. The studied samples were variably described and often not well-defined. Gait analysis found gait characteristics associated with ITW that varied from normal. Children with ITW can be differentiated from children with cerebral palsy on the basis of several gait pattern features, but findings from electromyographic comparisons were variable. Treatments included orthoses, casting, botulinum toxin type A, and surgery. The evidence to support any specific treatment is limited by the small sample size and short duration of follow-up in the majority of studies. The inadequacy of the current literature suggests the need for a longitudinal multi-center study to more clearly define the population of children with ITW and to determine indications, timing, and effectiveness of the various available treatments.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"25 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2022-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84512357","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

Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature mowalt - wilson综合征中2q22.2q22.3缺失1例报告及文献复习

IF 0.2

Journal of pediatric neurology Pub Date : 2022-02-10 DOI: 10.1055/s-0042-1749670

Manisha Goyal, M. Faruq, Ashok K. Gupta, Divya Shrivastava, U. Shamim

引用次数: 1

Erratum: Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1 勘误:儿童期神经退行性变伴小脑萎缩综合征:严重的神经元退行性变和心肌病伴小管蛋白去谷氨酰酶胞质羧肽酶1缺失

IF 0.2

Journal of pediatric neurology Pub Date : 2022-01-31 DOI: 10.1055/s-0042-1759571

B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per

引用次数: 0

Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1 儿童期神经退行性变伴小脑萎缩综合征:严重的神经元退行性变和心肌病伴小管蛋白去谷氨酰酶胞质羧肽酶1缺失

IF 0.2

Journal of pediatric neurology Pub Date : 2022-01-31 DOI: 10.1055/s-0042-1749669

B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per

{"title":"Childhood-Onset Neurodegeneration with Cerebellar Atrophy Syndrome: Severe Neuronal Degeneration and Cardiomyopathy with Loss of Tubulin Deglutamylase Cytosolic Carboxypeptidase 1","authors":"B. Samur, Gülhan Ercan-Sencicek, H. Gumuş, G. Gumus, A. Baykan, A. Çağlayan, H. Per","doi":"10.1055/s-0042-1749669","DOIUrl":"https://doi.org/10.1055/s-0042-1749669","url":null,"abstract":"Abstract The cytoskeleton is a dynamic filamentous network with various cellular and developmental functions. The loss of cytosolic carboxypeptidase 1 (CCP1) causes neuronal death. Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA, OMIM no.: 618276) is an extremely rare disease caused by ATP/GTP binding protein 1 ( AGTPBP1 ) gene-related CCP1 dysfunction of microtubules affecting the cerebellum, spinal motor neurons, and peripheral nerves. Also, possible problems are expected in tissues where the cytoskeleton plays a dynamic role, such as cardiomyocytes. In the present study, we report a novel homozygous missense (NM_015239: c.2447A > C, p. Gln816Pro) variant in the AGTPBP1 gene that c.2447A > C variant has never been reported in a homozygous state in the Genome Aggregation (gnomAD; v2.1.1) database, identified by whole-exome sequencing in a patient with a seizure, dystonia, dilated cardiomyopathy (DCM), and accompanying atrophy of caudate nuclei, putamen, and cerebellum. Unlike other cases in the literature, we expand the phenotype associated with AGTPBP1 variants to include dysmorphic features, idiopathic DCM which could be reversed with supportive treatments, seizure patterns, and radiological findings. These findings expanded the spectrum of the AGTPBP1 gene mutations and associated possible manifestations. Our study may help establish appropriate genetic counseling and prenatal diagnosis for undiagnosed neurodegenerative patients.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":"1 1","pages":"371 - 376"},"PeriodicalIF":0.2,"publicationDate":"2022-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77228217","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