Journal of Child Neurology最新文献_第3页

When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder. 当预期的情况没有发生：一种新的NDUFA12突变类似于视神经脊髓炎光谱障碍。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-17 DOI: 10.1177/08830738241313081

Ahmet Koçak, Emek Uyur Yalçin, Nilüfer Eldeş Hacifazlioğlu, İbrahim Taş, Rahşan Göçmen, Bahadır Konuşkan

{"title":"When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.","authors":"Ahmet Koçak, Emek Uyur Yalçin, Nilüfer Eldeş Hacifazlioğlu, İbrahim Taş, Rahşan Göçmen, Bahadır Konuşkan","doi":"10.1177/08830738241313081","DOIUrl":"https://doi.org/10.1177/08830738241313081","url":null,"abstract":"Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. NDUFA12, located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the NDUFA mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an NDUFA12 mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering NDUFA12 mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on NDUFA12 variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241313081"},"PeriodicalIF":2.0,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Unveiling Pediatric Neurosarcoidosis Mimicking Central Nervous System Tuberculosis: Diagnostic Challenges. 揭示小儿神经结节病模拟中枢神经系统结核：诊断挑战。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-12 DOI: 10.1177/08830738241304167

Mohammad Raza, Isbaah Tejani, Shahnaz Ibrahim

{"title":"Unveiling Pediatric Neurosarcoidosis Mimicking Central Nervous System Tuberculosis: Diagnostic Challenges.","authors":"Mohammad Raza, Isbaah Tejani, Shahnaz Ibrahim","doi":"10.1177/08830738241304167","DOIUrl":"https://doi.org/10.1177/08830738241304167","url":null,"abstract":"Neurosarcoidosis is a rare chronic inflammatory disease affecting the nervous system. Owing to its varying manifestations that can mimic other central nervous system infectious or autoimmune diseases, and scarcity of literature, it proves to be a challenging diagnosis. We report two cases of possible neurosarcoidosis in the pediatric age group. Our first patient presented to us with seizures at the age of 13 years, whereas our second patient presented with headaches and vomiting at the age of 10 years. Both patients had elevated cerebrospinal fluid protein levels and leptomeningeal enhancement on magnetic resonance imaging (MRI); however, one patient also had a pituitary lesion. Tests for tuberculosis were negative for both. One of the 2 patients exhibited normal angiotensin-converting enzyme levels at the start of symptoms but later showed raised angiotensin-converting enzyme levels. His diagnosis was delayed as he was treated initially for central nervous system infections. His disease course showed frequent relapses with varying clinical symptoms. After trying steroids and different immunosuppressive agents, he was given a rituximab infusion, and he went into remission. Our cases contribute to the literature for addressing diagnostic and management challenges in children with neurosarcoidosis.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241304167"},"PeriodicalIF":2.0,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Development and Validation of a Postprocedure Stroke Screening Tool in Children With Cardiac Disease. 心脏病患儿术后卒中筛查工具的开发与验证

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-12 DOI: 10.1177/08830738241302511

Dana B Harrar, Catherine L Salussolia, Louisa G Keith, Shangyuan Ye, Julie S Meadows, Alexandra Fialkow, Guangyu Zhu, Christina VanderPluym, Bo Zhang, Michael J Rivkin

{"title":"Development and Validation of a Postprocedure Stroke Screening Tool in Children With Cardiac Disease.","authors":"Dana B Harrar, Catherine L Salussolia, Louisa G Keith, Shangyuan Ye, Julie S Meadows, Alexandra Fialkow, Guangyu Zhu, Christina VanderPluym, Bo Zhang, Michael J Rivkin","doi":"10.1177/08830738241302511","DOIUrl":"https://doi.org/10.1177/08830738241302511","url":null,"abstract":"Background: Cardiac catheterization in children with heart disease is associated with an increased risk of arterial ischemic stroke. We created and evaluated the diagnostic performance of a bedside screening tool administered postprocedure to identify arterial ischemic stroke.Methods: We developed a postprocedure stroke screen comprising history of stroke, responsiveness, command following, speech, facial and limb strength symmetry, new seizure, and caregiver concern. We compared the performance of the screening tool in a retrospective cohort of 21 patients with a postcatheterization arterial ischemic stroke and a prospective cohort of 100 consecutive control patients after cardiac catheterization.Results: The postprocedure stroke screen delivered a maximum Youden index ranging from 0.810 to 0.937 at threshold scores of 2 or 2.5 and gave a sensitivity and specificity >0.9. The area under the receiver operating characteristic curve ranged from 0.931 to 0.946.Conclusions: We developed a screening tool with high sensitivity and specificity to identify postcatheterization arterial ischemic stroke in children.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241302511"},"PeriodicalIF":2.0,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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 Micronutrient Levels in Pediatric Migraine Patients. 评估小儿偏头痛患者的微量营养素水平。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-12 DOI: 10.1177/08830738241304868

Fatih Mehmet Akif Özdemir, Halil Çelik

引用次数: 0

Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder. 不要忘记测量头部：脑积水可以在表型上模仿发育协调障碍。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-09 DOI: 10.1177/08830738241302252

Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman

{"title":"Do not Forget to Measure the Head: Hydrocephalus Can Phenotypically Mimic Developmental Coordination Disorder.","authors":"Martinica Garofalo, Jelte Helfferich, Reina W Kloet, Deborah A Sival, Kirsten R Heineman","doi":"10.1177/08830738241302252","DOIUrl":"https://doi.org/10.1177/08830738241302252","url":null,"abstract":"Developmental Coordination Disorder (DCD) is a neurodevelopmental condition presenting with poor motor skill development and impaired coordination at a young age. To diagnose DCD, neurologic conditions explanatory for the phenotype, including structural brain abnormalities like hydrocephalus, must be first ruled out. However, these neurologic conditions may phenotypically mimic DCD, which can hamper their distinction. In this article, we report a patient in whom the initial diagnosis of DCD was withdrawn after the identification of acquired hydrocephalus. An important cue in this case was secondary macrocephaly (from +0.00 to +2.25 standard deviations over approximately 6 years' time). This case illustrates that, in children whose phenotypes seemingly fulfill the DCD criteria, it is important to rule out an underlying, treatable etiology before making the diagnosis of DCD. Since few structural brain abnormalities mimicking DCD may present with macrocephaly, including hydrocephalus, performing longitudinal head circumference measurements can be useful to timely identify these neurologic conditions.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241302252"},"PeriodicalIF":2.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cytokine Profiles Associated With Clinical Outcomes in Pediatric Patients With Meningitis: A Systematic Review and Meta-Analysis. 细胞因子谱与小儿脑膜炎患者临床结果相关：一项系统回顾和荟萃分析。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-09 DOI: 10.1177/08830738241304862

Daniela Caldas Teixeira, Ana Luisa Lodi Jimenez, Tales Godinho França, Kelvin Oliveira Rocha, Aline Almeida Bentes, Ana Cristina Simões E Silva, Lilian Martins Oliveira Diniz, Roberta Maia de Castro Romanelli

{"title":"Cytokine Profiles Associated With Clinical Outcomes in Pediatric Patients With Meningitis: A Systematic Review and Meta-Analysis.","authors":"Daniela Caldas Teixeira, Ana Luisa Lodi Jimenez, Tales Godinho França, Kelvin Oliveira Rocha, Aline Almeida Bentes, Ana Cristina Simões E Silva, Lilian Martins Oliveira Diniz, Roberta Maia de Castro Romanelli","doi":"10.1177/08830738241304862","DOIUrl":"https://doi.org/10.1177/08830738241304862","url":null,"abstract":"This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241304862"},"PeriodicalIF":2.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Introducing the New Editor-in-Chief of the Journal of Child Neurology. 介绍《儿童神经病学杂志》的新主编。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-08 DOI: 10.1177/08830738241309710

Alison Christy

引用次数: 0

Cortical Deafness in Children: Scoping Review and Case Report of a Bilateral Perinatal Stroke. 儿童皮质性耳聋：双侧围产期卒中的范围回顾和病例报告。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-08 DOI: 10.1177/08830738241308611

Francy Cruz-Sanabria, Carolina Ragoni, Renata Salvadorini, Rosa Pasquariello, Emanuele Bartolini, Silvia Paese, Deianira Rinaldi, Francesca Forli, Andrea Guzzetta, Simona Fiori

{"title":"Cortical Deafness in Children: Scoping Review and Case Report of a Bilateral Perinatal Stroke.","authors":"Francy Cruz-Sanabria, Carolina Ragoni, Renata Salvadorini, Rosa Pasquariello, Emanuele Bartolini, Silvia Paese, Deianira Rinaldi, Francesca Forli, Andrea Guzzetta, Simona Fiori","doi":"10.1177/08830738241308611","DOIUrl":"https://doi.org/10.1177/08830738241308611","url":null,"abstract":"Background: Persistent cortical deafness in the pediatric population is rarely reported, and there is limited information on its implications for early intervention.Objectives: This study aims to (1) conduct a scoping review on pediatric cortical deafness and (2) present a case report of a 7-year-old girl with left unilateral spastic cerebral palsy and cortical deafness resulting from presumed perinatal bilateral stroke.Methods: A search of PubMed, Scopus, and Web of Science identified 407 manuscripts. After the screening, 5 studies met the inclusion criteria for analysis. The case report details clinical characteristics, diagnostic challenges, and intervention strategies for pediatric cortical deafness.Results: The scoping review highlighted the limited literature on pediatric cortical deafness, emphasizing its association with extensive bilateral lesions and heterogeneous etiology. The case report underscored the need for comprehensive auditory function measurements, early diagnosis, and tailored interventions.Conclusions: Early and tailored interventions are crucial for improving prognosis in pediatric cortical deafness, particularly in cases associated with bilateral perinatal stroke.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738241308611"},"PeriodicalIF":2.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hammersmith Neonatal and Infant Neurological Examinations Scores in Typically Developing Infants Aged 1-6 Months. 1-6 个月发育正常婴儿的哈默史密斯新生儿和婴儿神经系统检查评分。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-09-27 DOI: 10.1177/08830738241282722

Julie C Skorup, Samuel R Pierce, Noor Ruwaih, Sara B DeMauro, Michelle J Johnson, Laura A Prosser

引用次数: 0

Vascular Abnormalities and Neurofibromatosis Type 1: A Paediatric Case Series. 血管异常与神经纤维瘤病 1 型：儿科病例系列。

IF 2 4区医学

Journal of Child Neurology Pub Date : 2025-01-01 Epub Date: 2024-10-09 DOI: 10.1177/08830738241284081

Paolo Currao, Marta Balzarini, Dario Pruna, Monica Marica, Consolata Soddu, Mariangela Marras, Marco Pavanello, Stefania Satta, Salvatore Savasta

引用次数: 0