Pediatric neurology最新文献

{"title":"Combined Use of Electroencephalography and Magnetic Resonance Imaging in the Prognostication of Neurodevelopmental Outcomes in Preterm Infants — A Systematic Review and Meta-Analysis","authors":"Corey D. Forrest MBBS, MPHTM ,&nbsp;Tommaso Biagioni MBBS ,&nbsp;Helen G. Liley MBChB ,&nbsp;Melissa M. Lai PhD, MBBS ,&nbsp;Paul B. Colditz PhD, MBBS ,&nbsp;Robert S. Ware PhD ,&nbsp;Roslyn N. Boyd PhD ,&nbsp;James A. Roberts PhD","doi":"10.1016/j.pediatrneurol.2025.11.005","DOIUrl":"10.1016/j.pediatrneurol.2025.11.005","url":null,"abstract":"<div><h3>Background</h3><div>Neurological injury remains a major cause of neurodevelopmental morbidity in preterm-born infants. Accurate prognostication is essential for support of families and to target interventions. Electroencephalography (EEG) and magnetic resonance imaging (MRI) can be used to precisely assess brain function and structure in preterm infants. This systematic review assessed the prognostic capacity of EEG and MRI alone, and in combination, for the prediction of neurodevelopmental outcomes in preterm-born infants.</div></div><div><h3>Methods</h3><div>PubMed, Embase, Web of Science, and Cochrane databases were searched from inception until April 22, 2025. Studies were included if they examined the use of both MRI and EEG in preterm-born infants to predict neurodevelopmental outcomes.</div></div><div><h3>Results</h3><div>From 1669 records screened, 12 studies reporting 1630 infants were included in the systematic review. Of these 12, seven were sufficiently homogenous for quantitative meta-analysis, yielding pooled sensitivity and specificity values across 952 infants: EEG prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% confidence interval [CI] 48-80%) and specificity 70% (95% CI 59-81%); MRI prognosticated abnormal neurodevelopmental outcomes with sensitivity 64% (95% CI 48-80%) and specificity 89% (95% CI 81-97%). Three of these seven studies, reporting 372 infants, were sufficiently comparable to meta-analyze the combination of EEG and MRI, which predicted neurodevelopmental outcome with sensitivity 70% (95% CI 49-90%) and specificity 96% (95% CI 93-100%).</div></div><div><h3>Conclusions</h3><div>The combined use of EEG and MRI can predict abnormal neurodevelopment in preterm-born infants with high sensitivity and specificity and was superior to either test in isolation; however, data are limited as multimodal neurological-assessment is still an emerging practice in neonates.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 116-129"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inebilizumab: Pediatric Case Series in Anti-Aquaporin 4 Antibody Positive Neuromyelitis Optica Spectrum Disorder","authors":"Darina Dinov DO,&nbsp;Denise Maddox BSN,&nbsp;Benjamin M. Greenberg MD, MHS","doi":"10.1016/j.pediatrneurol.2025.11.008","DOIUrl":"10.1016/j.pediatrneurol.2025.11.008","url":null,"abstract":"<div><h3>Background</h3><div>Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune condition which can be diagnosed either based on a constellation of neurological symptoms and/or a positive anti-aquaporin 4 antibody. About 3-5% of all cases occur in pediatric patients, and currently there are no FDA-approved therapies for patients under the age of 18 years for NMOSD. There are currently 4 FDA-approved medications for adults with seropositive NMOSD-eculizumab, inebilizumab, satralizumab, and ravulizumab.</div></div><div><h3>Methods/Results</h3><div>Herein, we present a case series of four patients who have seropositive NMOSD and are on inebilizumab. All four patients have had two courses of this medication and have tolerated it well. There was not a significant burden of side effects, and none of the patients have presented with relapses.</div></div><div><h3>Conclusions</h3><div>This study adds to the literature because it shows that in our cohort inebilizumab was a safe medication for pediatric patients with NMOSD and prevented further relapses.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 108-110"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lacosamide-Induced Drug Rash With Eosinophilia and Systemic Symptoms Syndrome in a Pediatric Patient: A Case Report","authors":"Peyton Tempel BA ,&nbsp;Nayana Prabhu MD ,&nbsp;Meagan Hainlen MD ,&nbsp;Afsaneh Talai MD","doi":"10.1016/j.pediatrneurol.2025.11.006","DOIUrl":"10.1016/j.pediatrneurol.2025.11.006","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 139-141"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145678411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex Disparities in Neonatal Arterial Ischemic Stroke: Larger Lesion Volume and More Severe Long-Term Disability in Male Infants","authors":"Alfredo García-Alix MD, PhD ,&nbsp;Christian Núñez PhD ,&nbsp;Gemma Arca MD, PhD ,&nbsp;Juan Arnaez MD, PhD ,&nbsp;Thais Agut MD, PhD ,&nbsp;Malaika Cordeiro MD, PhD ,&nbsp;Nuria Boronat MD, PhD ,&nbsp;Isabel Benavente-Fernández MD, PhD ,&nbsp;Simón Lubián MD, PhD ,&nbsp;Eva Valverde MD, PhD ,&nbsp;Christian Stephan-Otto PhD","doi":"10.1016/j.pediatrneurol.2025.11.010","DOIUrl":"10.1016/j.pediatrneurol.2025.11.010","url":null,"abstract":"<div><h3>Background</h3><div>To examine the relationship between sex and infarct volume in neonatal arterial ischemic stroke (NAIS) and to compare the functional outcomes of male and female infants at 2 years of age.</div></div><div><h3>Methods</h3><div>A prospective observational multicenter study was conducted in 6 hospitals in Spain. Sixty-four consecutive infants with idiopathic and symptomatic NAIS were recruited. Lesion masks were created to determine NAIS volume and location. Data on acute-phase symptoms, including seizure occurrence and anticonvulsant drugs use, and on functional outcomes at 2 years, including need for speech therapy, were collected. Dichotomous categorical variables were compared between males and females using chi-square or logistic regression tests, while differences in continuous variables were assessed by means of t-tests. Analysis of covariance or logistic regression was performed to adjust for infarct volume.</div></div><div><h3>Results</h3><div>Male infants presented a higher prevalence of NAIS compared to females (61% vs 39%). In addition, males showed larger infarct volumes and a differential pattern in the spatial distribution of lesions (<em>P</em> &lt; 0.05). The male group also presented higher rates of postnatal epilepsy (41% vs 12%; <em>P</em> = 0.019), need for speech therapy (58% vs 24%; <em>P</em> = 0.010), and strabismus at 2 years of age (18% vs 0%).</div></div><div><h3>Conclusions</h3><div>Our results point to larger infarct volumes and a worse outcome in males affected by NAIS. These results, together with further studies on the differential effects associated with sex in the context of NAIS, may shape new sex-specific neuroprotective strategies and follow-up plans.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 130-138"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145678449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study","authors":"Judith S. Miller PhD ,&nbsp;Cristan Farmer PhD ,&nbsp;Susan Blair MS, PT ,&nbsp;Simona Bianconi MD ,&nbsp;Natacha Akshoomoff PhD ,&nbsp;Irina Anselm MD ,&nbsp;Bruce A. Barshop MD, PhD ,&nbsp;Lindsey Becker BS ,&nbsp;Amanda E. Bennett MD, MPH ,&nbsp;Leandra N. Berry PhD ,&nbsp;Elizabeth M. Berry-Kravis MD, PhD ,&nbsp;Aleksandra Bruchey PhD ,&nbsp;Anna W. Byars PhD ,&nbsp;Tricia Cimms MPH ,&nbsp;Kim M. Cecil PhD ,&nbsp;Maxine Covello BS ,&nbsp;Laura S. Cubit PhD ,&nbsp;Tanvi Das PhD ,&nbsp;Robert J. Davis PharmD ,&nbsp;Madison Drye BS ,&nbsp;Audrey Thurm PhD","doi":"10.1016/j.pediatrneurol.2025.10.023","DOIUrl":"10.1016/j.pediatrneurol.2025.10.023","url":null,"abstract":"<div><h3>Background</h3><div>The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).</div></div><div><h3>Methods</h3><div>Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.</div></div><div><h3>Results</h3><div>Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, gastrointestinal symptoms, and growth failure. All participants learned how to walk, 78% developed at least some verbal speech, and 34% communicated using phrases or sentences. Norm-referenced neurodevelopment assessments indicated declining standardized scores over time; however, absolute scores (i.e., age equivalent person ability scores) indicated that developmental gains were slower than average, particularly among older participants. Between-person differences in neurodevelopmental skills as a function of age did not match within-person change, suggesting a cohort effect.</div></div><div><h3>Conclusions</h3><div>In this cohort, CTD was associated with significant and persistent intellectual disability. The use of absolute metrics from neurodevelopmental tests (e.g., person ability scores) allowed for the quantification of slow, but present, skill development.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 8-18"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145537057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(26)00011-1","DOIUrl":"10.1016/S0887-8994(26)00011-1","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages A1-A2"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146170157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence From the Ket-Mid Study for Early Polytherapy in Children With Stage 1 Plus Status Epilepticus: Authors’ Response","authors":"Abdelrahim A. Sadek MD, PhD ,&nbsp;Amr A. Othman MD, PhD ,&nbsp;Esraa A. Ahmed MD, MSc ,&nbsp;Elsayed Abdelkreem MD, PhD","doi":"10.1016/j.pediatrneurol.2025.11.023","DOIUrl":"10.1016/j.pediatrneurol.2025.11.023","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 208-209"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145774853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome","authors":"Hyoung Won Choi MD ,&nbsp;Laura Davids MMSc ,&nbsp;Kartik Reddy MD ,&nbsp;Neal Sankhla MD ,&nbsp;Guojun Zhang MD","doi":"10.1016/j.pediatrneurol.2025.12.001","DOIUrl":"10.1016/j.pediatrneurol.2025.12.001","url":null,"abstract":"<div><div>Biallelic pathogenic variants in the WW domain-containing oxidoreductase (<em>WWOX</em>) gene have been identified as causes of <em>WWOX</em>-related epileptic encephalopathy. We report vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) in two children affected by <em>WWOX</em>-related epileptic encephalopathy. The clinical presentation included microcephaly, hypertonia, dysphagia, profound global developmental delay, and early infantile onset drug-resistant epilepsy. Initial neuroimaging was characterized by periventricular white matter volume loss and atrophy of the corpus callosum. Brain magnetic resonance imaging during vigabatrin treatment revealed new symmetrical signal changes in the globus pallidi and thalami consistent with VABAM. Further research is warranted to investigate whether children with genetic epilepsy related to the GABAergic pathway or delayed myelination are more susceptible to VABAM.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 230-233"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145828181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids Clinical Manifestations in Children Versus Adults","authors":"Angel Phan MS4 ,&nbsp;Gilbert Handal MD ,&nbsp;Dale W. Quest PhD ,&nbsp;Josh Nichols MD ,&nbsp;Seunghong Rhee MD ,&nbsp;Diana Moreno MS4","doi":"10.1016/j.pediatrneurol.2025.11.011","DOIUrl":"10.1016/j.pediatrneurol.2025.11.011","url":null,"abstract":"<div><div>This article explores the manifestations, radiological findings, associated diseases, treatment, and outcomes in pediatric chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (C.L.I.P.P.E.R.S.). It was inspired by an 11-year-old male who presented with headache, ataxia, nystagmus, persistent vomiting, nausea, and constipation. He was diagnosed with C.L.I.P.P.E.R.S. based on clinical and radiologic findings, and positive response to treatment. The ensuing literature review led us to conclude that pediatric C.L.I.P.P.E.R.S. has a clinical presentation, etiology, evolution, course and prognosis different from adult cases. Future pediatric workup should include genetic studies because of commonly associated mutations such as PRF1. Treatment in pediatric cases should account for a delayed response to steroids, frequent recurrences, and especially in genetic cases, definitive treatment may require hematopoietic stem cell transplant. It seems that C.L.I.P.P.E.R.S. is not an isolated disease, rather a syndrome with unique radiologic findings, a wide range of etiologies, and clinical and neurologic manifestations that distinguish pediatric from adult cases. In order to optimize treatment and follow-up, future diagnostic approaches of C.L.I.P.P.E.R.S. in children should include workup for a primary disease such as EBV B cell lymphoma or hemophagocytic lymphohistiocytosis.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 180-186"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145768776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacokinetic-Based Dose Adjustment of Selumetinib in 2 Young Children With Neurofibroma","authors":"Caroline Donzé MD ,&nbsp;Charlotte Bérard MD ,&nbsp;Gabriel Revon-Rivière MD ,&nbsp;Maidou Campana MD ,&nbsp;Nicolas André PhD","doi":"10.1016/j.pediatrneurol.2025.11.014","DOIUrl":"10.1016/j.pediatrneurol.2025.11.014","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"175 ","pages":"Pages 165-167"},"PeriodicalIF":2.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145736545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}