Journal of Child Neurology最新文献

{"title":"Proceedings of the 48th Annual Southern Pediatric Neurology Society Meeting, New Orleans, LA, March 8, 2025.","authors":"","doi":"10.1177/08830738251335354","DOIUrl":"10.1177/08830738251335354","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"504-509"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009319","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}

{"title":"Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.","authors":"Jihye You, Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Mi-Sun Yum, Beom Hee Lee, Jeong Jin Yu","doi":"10.1177/08830738251327248","DOIUrl":"10.1177/08830738251327248","url":null,"abstract":"<p><p>Becker muscular dystrophy is an infrequent genetic disorder that results from dystrophin gene mutations. Cardiac involvement is a primary manifestation. The time of onset of underlying cardiac functional abnormalities remains largely undefined. This study involved 17 pediatric patients with Becker muscular dystrophy who visited our hospital between January 1, 2002, and December 31, 2018, and underwent echocardiographic imaging analysis. Another set of 17 controls matched for age and sex to the patient cohort was chosen for comparison. Patients with Becker muscular dystrophy demonstrated a decline in echocardiographic measures, especially deformation parameters, compared with the control group. This alteration is influenced by age. Our findings suggest that early echocardiographic monitoring may help identify subclinical cardiac dysfunction, particularly in younger patients (<10 years of age).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"510-518"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692309","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}

{"title":"Cerebrovascular Vasospasms, Cerebral Sinus Venous Thrombosis, and Rapid Empyema Reaccumulation in a Child with a Coinfection of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i>.","authors":"Rachel Geiser, Onilia Zorio, Brian Appavu","doi":"10.1177/08830738251339048","DOIUrl":"10.1177/08830738251339048","url":null,"abstract":"<p><p><i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i> are anaerobic gram-negative rods that exist in the oral cavity. To our knowledge, pediatric central nervous system complications with these pathogens have not been well described. An 11-year-old previously healthy vaccinated female child presented for 2 weeks of sinusitis that progressed to left arm and leg hemiplegia. Initial neuroimaging demonstrated a superior sagittal sinus thrombosis and a right hemispheric subdural empyema with midline shift, necessitating surgical evacuation. Culture of the subdural accumulation demonstrated coinfection of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i>. Within 24 hours of evacuation, the patient progressed to have right hemispheric electrographic status epilepticus, with neuroimaging demonstrating reaccumulation of the empyema and a moderate right middle cerebral artery vasospasm. Transcranial doppler ultrasonography of the right middle cerebral artery territory demonstrated mean flow velocities up to 148 cm/s with a Lindengaard ratio of 3.44. The patient underwent repeat subdural evacuation and was managed with intravenous fluids, permissive hypertension, oral nimodipine, and intravenous milrinone. Electrographic status epilepticus was treated with intravenous lacosamide and levetiracetam. Repeat neuroimaging demonstrated improvement in subdural collection size and resolution of vasospasms. She was discharged after 16 days with continued lacosamide and levetiracetam for seizures, and enoxaparin (Lovenox) for the superior sagittal sinus thrombosis. We present a novel pediatric case of <i>Fusobacterium nucleatum</i> and <i>Prevotella loescheii</i> manifesting with rapid subdural empyema reaccumulation after surgical evacuation, status epilepticus, cerebrovascular vasospasms, and cerebral sinus venous thrombosis. Further work is needed to understand the potential neurologic complications of this condition.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"563-565"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078109","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}

{"title":"Neurobrucellosis Mimicking Brain Tumor in a Pediatric Patient: A Case Report.","authors":"Arpita Bhriguvanshi, Hadassa Leader, Xiu Sun, Albert Rojtman","doi":"10.1177/08830738251356669","DOIUrl":"https://doi.org/10.1177/08830738251356669","url":null,"abstract":"<p><p>Brucellosis is a zoonotic infection common in many parts of the world, but rare in the United States. This case report presents a unique instance of pediatric neurobrucellosis mimicking a brain tumor, marking the first reported case in the United States and only the fourth globally in the general population. Brucellosis is endemic to the Middle East, Indian subcontinent, South Africa, parts of South and Central America, and Mexico. The primary <i>Brucella</i> species causing human infection include <i>Brucella melitensis</i> (reservoir: sheep and goats), <i>Brucella suis</i> (swine), and <i>Brucella abortus</i> (cattle), with transmission primarily via unpasteurized dairy, direct animal contact, or inhalation of aerosols.¹ Neurobrucellosis, a rare complication, manifests in diverse ways, including meningitis, encephalitis, cranial neuropathies, intracranial hypertension, and psychiatric symptoms. Its clinical variability often leads to diagnostic delays and complications. Early recognition and treatment require a high index of suspicion to mitigate its potentially severe outcomes.² This case underscores the importance of considering neurobrucellosis in atypical neurologic presentations.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251356669"},"PeriodicalIF":1.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144742219","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}

{"title":"Beyond Myoclonus-Seizures, Epilepsy Syndromes and Atypical Electroencephalographic (EEG) Findings in Children With Subacute Sclerosing Panencephalitis.","authors":"Priya Setia, Sayoni Roy Chowdhury, Vanshika Kakkar, Rashmi Meena, Divyani Garg, Puneet Jain, Suvasini Sharma","doi":"10.1177/08830738251356846","DOIUrl":"https://doi.org/10.1177/08830738251356846","url":null,"abstract":"<p><p>BackgroundSubacute sclerosing panencephalitis is typically characterized by myoclonic jerks, cognitive decline, movement disorders, and periodic complexes on electroencephalography (EEG). Although myoclonus is a hallmark feature, other seizure types including generalized/focal seizures are less commonly described in subacute sclerosing panencephalitis. We aimed to study seizure frequency, types, spectrum of epilepsy syndromes, and atypical EEG findings among children with subacute sclerosing panencephalitis.Materials and MethodsA retrospective chart review of 100 children (aged 1-18 years) diagnosed with subacute sclerosing panencephalitis (April 2020-April 2024) was conducted. Data collected included demographics, clinical features, seizure semiology, EEG, and magnetic resonance imaging (MRI) findings. Outcome measures included the proportion of children experiencing seizures beyond myoclonus, the spectrum of seizures and epilepsy syndromes as per the International League Against Epilepsy (ILAE) 2017 seizure classification and the ILAE 2022 diagnostic framework for electroclinical syndromes, respectively, and description of other atypical EEG patterns.ResultsAmong 100 children (73% males, age range 5.5-10 years), 54% had seizures beyond myoclonus, which included bilateral tonic-clonic seizures in 48 children, focal seizures in 5 children, and 1 child with epileptic spasms. Six children had classifiable epilepsy syndromes, including 5 children with epileptic encephalopathy with spike-wave activation in sleep and 1 child with infantile epileptic spasms syndrome. Atypical EEG patterns, seen in 22%, included epileptic encephalopathy with spike-wave activation in sleep-like pattern, modified hypsarrhythmia-like pattern, electrodecrement within periodic complexes, etc, which correlated with advanced stages of subacute sclerosing panencephalitis.ConclusionsSubacute sclerosing panencephalitis can often mimic epileptic encephalopathies. Atypical seizure semiologies and varied EEG patterns highlight the need for strong clinical suspicion to avoid misdiagnosis and delayed disease recognition, especially in endemic countries like India.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251356846"},"PeriodicalIF":1.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144742218","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}

{"title":"Adverse Effects of Cenobamate in Pediatric Epilepsy: Demographic Considerations.","authors":"Brooke K Iwamoto, Ashley M Whitaker, Latanya D Agurs, Michele M Van Hirtum-Das, Madeline D Kahan, Brittany Jordan, Leanne Mendoza, Sucheta M Joshi, Jenna A Chiang","doi":"10.1177/08830738251357348","DOIUrl":"https://doi.org/10.1177/08830738251357348","url":null,"abstract":"<p><p>This study explores trends and potential risk factors among pediatric patients with drug-resistant epilepsy who were prescribed cenobamate by their epileptologist. Twenty-four patients (54.2% female) with drug-resistant (62.5% focal) epilepsy were administered cenobamate (mean = 13.27 years, standard deviation [SD] = 4.91 years) after failing multiple antiseizure medications (mean = 4.83, SD = 2.94). Fifty percent reported improved seizure frequency, although more than half the sample experienced physiological (n = 12, 50%) and/or psychiatric (n = 4, 16.7%) adverse events, with 39% rapidly discontinuing cenobamate (mean = 4.00 months, SD = 3.21) because of intolerable physiological (n = 4, 57.1%) and/or psychiatric adverse events (n = 3, 42.9%). Of those experiencing a psychiatric adverse event, all but 1 (75%) discontinued cenobamate, as compared to discontinuation by only 40% of those experiencing a physiological adverse event (n = 10). Psychiatric adverse events were significantly associated with sex (100% female), χ²(1, N = 24) = 4.06, <i>P</i> = .04. Preliminary analyses also suggest older age (adolescence) may increase risk for psychiatric adverse events of cenobamate among patients with pediatric epilepsy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251357348"},"PeriodicalIF":1.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731176","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}

{"title":"Global Research Progress of Mitochondria and Hypoxic-Ischemic Encephalopathy: A Comprehensive Bibliometric Analysis.","authors":"Liyan Luo, Hong Zhang, Qiaozhi Jiang, Shaohe Hei, Min Li, Wenlong Zhang, Pengcheng Yang, Sixiang He, Feng Jiang, Qian Wang","doi":"10.1177/08830738251352218","DOIUrl":"https://doi.org/10.1177/08830738251352218","url":null,"abstract":"<p><p>BackgroundHypoxic-ischemic encephalopathy is a serious neurologic condition caused by reduced blood and oxygen supply to the brain, typically occurring during birth. Mitochondria play a crucial role in the pathophysiological mechanisms of hypoxic-ischemic encephalopathy, yet a comprehensive bibliometric analysis of this research area is lacking. This study aims to identify research hotspots and trends related to mitochondria and hypoxic-ischemic encephalopathy through a detailed bibliometric analysis.MethodsWe searched the Web of Science Core Collection for studies on hypoxic-ischemic encephalopathy and mitochondria published between 2004 and 2024. Using VOSviewer, Citespace, and the R package \"bibliometrix,\" we conducted a comprehensive analysis to explore research trends, key topics, and collaborations.ResultsA total of 162 eligible articles were identified. The annual number of publications has increased over time, with peaks in recent years. The top contributing countries were China, the United States, and the United Kingdom, showing extensive international collaborations. Major institutions include Augusta University, Southern Medical University, and the University of the Basque Country. The leading journals were the <i>International Journal of Molecular Sciences</i> and <i>Neurobiology of Disease</i>. Keyword analysis highlighted neuroprotection, apoptosis, oxidative stress, and ferroptosis as primary research themes. Influential references with strong citation bursts were identified, indicating their impact on the field.ConclusionThis is the first bibliometric analysis of research on mitochondria and hypoxic-ischemic encephalopathy, highlighting key trends and hotspots. Our findings provide valuable insights into the development and direction of research in this field and emphasize the importance of mitochondria in understanding and potentially mitigating the impacts of hypoxic-ischemic encephalopathy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251352218"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731177","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}

{"title":"Pathogenic Variants in <i>MPDZ</i> are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.","authors":"Warren Stopak, Kelly A Keener, Vinod K Misra","doi":"10.1177/08830738251353005","DOIUrl":"https://doi.org/10.1177/08830738251353005","url":null,"abstract":"<p><p>Pathogenic variants in <i>MPDZ</i> are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in <i>MPDZ</i>, c.2650-1G>A in both siblings. These siblings present with features suggesting that <i>MPDZ</i> pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that <i>MPDZ</i> influences common morphogenetic pathways underlying these relationships.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353005"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731179","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}

{"title":"Indomethacin-Responsive Headaches in Children and Adolescents: A Pearls and Pitfalls Case Series.","authors":"Ashley K Miller, Christopher T Jackman, Eric M Remster, Mathew A Stokes","doi":"10.1177/08830738251360177","DOIUrl":"https://doi.org/10.1177/08830738251360177","url":null,"abstract":"<p><p>BackgroundHemicrania continua and paroxysmal hemicrania are rare in the pediatric population. Recognizing these disorders characterized by unilateral headaches with autonomic features can reduce time to diagnosis, facilitate effective medical treatment, and reduce morbidity.ObjectiveTo review the diagnostic criteria and pathophysiology of hemicrania continua and paroxysmal hemicrania, analyze a retrospective cohort of adolescent patients with indomethacin-responsive headaches, and discuss the clinical features of these patients, both in how they follow the diagnostic criteria for these disorders and how they may deviate. We also examined time to diagnosis and prognosis for this cohort.MethodsA retrospective chart review was completed of patients 12-18 years old from 2014 to 2021 diagnosed with indomethacin-responsive headaches who presented to a tertiary pediatric headache clinic. Clinical headache characteristics, demographic features, medical diagnoses, and diagnostic testing were reviewed and collated.ResultsEight patients (7 female, 1 male) had indomethacin-responsive headaches. Six patients were diagnosed with hemicrania continua and 2 were diagnosed with paroxysmal hemicrania. The most common autonomic symptoms were unilateral nasal congestion and conjunctival injection/lacrimation. The median time to diagnosis was 15 months, and the median treatment length was 7 months.ConclusionPatients can have multiple headache phenotypes. Clinicians should ask headache patients of all ages about autonomic symptoms and unilateral headaches, specifically in fixed unilateral headaches. These headaches should be evaluated with imaging to rule out secondary intracranial causes. In those cases, with these features, an indomethacin trial is part of the diagnosis and should be considered early in the course.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251360177"},"PeriodicalIF":1.6,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144731178","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}

{"title":"Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study.","authors":"Christian Rummey, Susan Perlman, S H Subramony, Manuela Corti, Jennifer Farmer, David R Lynch","doi":"10.1177/08830738251353475","DOIUrl":"https://doi.org/10.1177/08830738251353475","url":null,"abstract":"<p><p>BackgroundFriedreich ataxia is a rare genetic disorder caused by mutations in the <i>FXN</i> gene, typically presenting with balance and coordination difficulties between ages 7 and 15 years. Neurologic symptoms are progressive and lead to loss of ambulation and especially in children other symptoms such as cardiomyopathy, scoliosis, and fatigue are common. The FACHILD natural history study aimed to expand knowledge about the disease course and evaluate clinical outcome assessments in children. We report on functional performance testing, clinical rating scales, and patient-reported outcomes as clinical outcome assessments for Friedreich ataxia. Over a 3-year period, all tests and assessments were conducted to evaluate their sensitivity to progression and correlate with established measures such as neurologic rating scales.MethodsIndividuals with genetically confirmed Friedreich ataxia, aged 7-18 years, were enrolled from October 2017 to November 2022. This analysis focused on ambulatory individuals, including timed walks (25-foot, 1 minute, and 6 minutes), the timed up and go, and the 9-hole pegboard test. Additionally, the Berg Balance Scale and FA-Activities of Daily Living were assessed. Progression data were analyzed using mixed models for repeated measures, with detailed analyses of intermittent missing data. Data from the Friedreich Ataxia Clinical Outcome Measures Study was used to augment analyses when available.Findings and InterpretationFunctional performance outcome measures are sensitive and clinically relevant tools for assessing disease progression in children with Friedreich ataxia. In early to moderately affected populations, the 1-Minute Walk demonstrated promising properties, showing comparable sensitivity to the modified Friedreich Ataxia Rating Scale and the Upright Stability Score.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251353475"},"PeriodicalIF":2.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707551","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}