Pediatric neurology最新文献

{"title":"Brain Folate Depletion as a Cause of Metabolic Stroke in Dihydropteridine Reductase Deficiency: A Suggestive Case Report","authors":"Giacomina Ricciardi MD , Mario Mastrangelo MD, PhD , Claudia Carducci MD , Antonio Gambardella MD , Francesco Pisani MD , Vincenzo Leuzzi MD","doi":"10.1016/j.pediatrneurol.2025.03.006","DOIUrl":"10.1016/j.pediatrneurol.2025.03.006","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"167 ","pages":"Pages 6-8"},"PeriodicalIF":3.2,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143746767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Renewing the Commitment to Diversity in Neurology: Resisting the Backlash","authors":"Joshua A. Budhu , Diana M. Cejas","doi":"10.1016/j.pediatrneurol.2025.02.006","DOIUrl":"10.1016/j.pediatrneurol.2025.02.006","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages A6-A7"},"PeriodicalIF":3.2,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143619439","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(25)00055-4","DOIUrl":"10.1016/S0887-8994(25)00055-4","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"165 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143619436","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":"A Postmarketing Pharmacovigilance Study of Fenfluramine: Adverse Event Data Mining and Analysis Based on the US Food and Drug Administration Public Data Open Project (openFDA)","authors":"Tianyu Chen MNS ,&nbsp;Qiying Chen BM ,&nbsp;Yuezhen Zhang BM ,&nbsp;Ting Liu BM","doi":"10.1016/j.pediatrneurol.2025.03.001","DOIUrl":"10.1016/j.pediatrneurol.2025.03.001","url":null,"abstract":"<div><h3>Background</h3><div>A postmarketing analysis of the adverse events (AEs) associated with fenfluramine (FFA) was conducted using the US Food and Drug Administration's Open Public Data Program (openFDA).</div></div><div><h3>Methods</h3><div>The openFDA database was queried to retrieve FFA AE reports. Two algorithms, namely, the reporting odds ratio (ROR) and proportional reporting ratio, were employed for the purpose of detecting potential safety signals.</div></div><div><h3>Results</h3><div>From the openFDA data platform, a total of 6,269,521 AE reports were collected during the study period; the number of AE reports with FFA as the primary suspect was 2386. Of these, 1526 (63.96%) were reported by consumers or non–health professionals, 2009 (84.20%) were reported by the United States, 1053 (44.13%) were unknown indications, and serious AEs were reported in 1315 cases (55.11%). A total of 62 signals were generated. The top 10 signals included atonic seizures (ROR of 918.52, 95% confidence interval [CI]: 670.65-1257.99), seizure clusters (ROR of 787.02, 95% CI: 595.26-1040.56), mitral valve thickening (ROR of 773.94, 95% CI: 463.47-1292.38), pulmonary valve incompetence (ROR of 600.71, 95% CI: 432.09-835.13), echocardiogram abnormal (ROR of 417.13, 95% CI: 307.87-565.16), change in seizure presentation (ROR of 287.55, 95% CI: 214.81-384.91), tricuspid valve incompetence (ROR of 221.42, 95% CI: 179.68-272.84), aortic valve incompetence (ROR of 176.59, 95% CI: 131.89-236.45), tonic convulsion (ROR of 173.68, 95% CI: 110.28-273.54), and myoclonic epilepsy (ROR of 158.05, 95% CI: 102.60-243.46).</div></div><div><h3>Conclusions</h3><div>This study employed the openFDA database to identify safety signals associated with FFA, thereby offering significant insights for clinical monitoring and risk identification in patients undergoing FFA therapy.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 96-102"},"PeriodicalIF":3.2,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705752","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":"Pallidonigral Degeneration: A Recognizable Pattern of Secondary Degeneration Following Striatal Injury","authors":"Joseph G. O'Sullivan MD,&nbsp;Murat A. Oztek MD,&nbsp;Ramesh S. Iyer MD, MBA,&nbsp;Jason N. Wright MD","doi":"10.1016/j.pediatrneurol.2025.02.013","DOIUrl":"10.1016/j.pediatrneurol.2025.02.013","url":null,"abstract":"<div><div>Primary brain injuries can give rise to specific, predictable patterns of secondary neuroaxonal degeneration. We report a novel imaging pattern of pallidonigral degeneration involving both the globus pallidus and the substantia nigra following ipsilateral striatal insult in children. In this clinical report, we present a series of 10 pediatric patients with secondary pallidonigral degeneration in three distinct temporospatial patterns. Pallidonigral degeneration manifested with cytotoxic injury in the globus pallidus around day 6-7 after symptomatic presentation of acute striatal injury, followed by additional involvement of the substantia nigra around day 9-10, with documented resolution in one patient by approximately one month. In patients with subacute or chronic progressive striatal injury, pallidonigral degeneration may be acute at the time of initial magnetic resonance evaluation. Recognition of these imaging patterns allows their distinction from ongoing damage linked to the underlying etiology of striatal insult and is crucial for directing appropriate management.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"167 ","pages":"Pages 1-5"},"PeriodicalIF":3.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143740136","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":"Utilizing Cerebrospinal Fluid Cytokines for Treatment Response to Interleukin-6 Receptor Blockade in Acute Necrotizing Encephalopathy","authors":"Anna Mesec DO,&nbsp;Niyati Mehta MD,&nbsp;Shamshad Shahrukh MD,&nbsp;Rachel Sawdy DNP, CPNP-AC,&nbsp;Andrea Maxwell MD, MPH","doi":"10.1016/j.pediatrneurol.2025.02.014","DOIUrl":"10.1016/j.pediatrneurol.2025.02.014","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 93-95"},"PeriodicalIF":3.2,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697559","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":"Differentiating Pathology of Acute Disseminated Encephalomyelitis From Multiple Sclerosis in Children Using Diffusion Magnetic Resonance Biomarkers","authors":"Esra Pehlivan MD ,&nbsp;Martin Kinuthia Mwangi MD ,&nbsp;Vihas Abraham MD ,&nbsp;Urmi Mange BA ,&nbsp;Sheng-Kwei Song PhD ,&nbsp;Peng Sun PhD ,&nbsp;Soe Soe Mar MD","doi":"10.1016/j.pediatrneurol.2025.02.012","DOIUrl":"10.1016/j.pediatrneurol.2025.02.012","url":null,"abstract":"<div><h3>Background</h3><div>To investigate the pathologic differences in patients with pediatric-onset multiple sclerosis (POMS) and acute disseminated encephalomyelitis (ADEM) using diffusion tensor imaging (DTI) and diffusion basis spectrum imaging (DBSI).</div></div><div><h3>Methods</h3><div>Fifteen children with POMS and eight children with ADEM underwent DTI and DBSI. The comparison of DTI and DBSI diffusivity measures of POMS (31 scans) and ADEM (17 scans) was performed as group comparison and association over time.</div></div><div><h3>Results</h3><div>In univariate analysis of average measures of DBSI and DTI over time, DBSI fractional anisotropy is lower in POMS than ADEM (<em>P</em> = 0.002), indicative of axonal injury of POMS. Higher DBSI fiber fraction (<em>P</em> = 0.046) and DBSI radial diffusivity (<em>P</em> = 0.016) but lower DBSI nonrestricted fraction (<em>P</em> = 0.005) in patients with POMS suggests higher axonal density, demyelination, and lower extra-axonal edema in POMS. However, there are no significant differences in DTI measures between POMS and ADEM over time.</div></div><div><h3>Conclusion</h3><div>DBSI may be useful to monitor and quantitatively compare coexisting axonal injury, demyelination, and inflammation in central nervous system white matter tracts in children with POMS and ADEM, overcoming the disadvantages of DTI. Larger prospective longitudinal studies are required to confirm these results.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 88-92"},"PeriodicalIF":3.2,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electroencephalography in Preterm Infants for Predicting Neurodevelopmental Outcomes: A Systematic Review and Diagnostic Test Accuracy Meta-Analysis","authors":"Vijay Kumar Krishnegowda DrNB ,&nbsp;Prathik Bandiya DM ,&nbsp;Tapas Bandyopadhyay DM ,&nbsp;Haribalakrishna Balasubramanian DM ,&nbsp;Daniele Trevisanuto MD ,&nbsp;Viraraghavan Vadakkencherry Ramaswamy DM","doi":"10.1016/j.pediatrneurol.2025.02.010","DOIUrl":"10.1016/j.pediatrneurol.2025.02.010","url":null,"abstract":"<div><h3>Background</h3><div>Electroencephalography (EEG) and amplitude-integrated EEG (aEEG) have been utilized to predict neurodevelopmental impairment (NDI) in preterm infants.</div></div><div><h3>Methods</h3><div>MEDLINE, SCOPUS, Embase, Web of Science, and Cochrane Library were searched from inception until November 1, 2023. Observational studies evaluating EEG and aEEG and neurodevelopment assessment performed at least after six months corrected age (CA) were included. A diagnostic test accuracy (DTA) meta-analysis using a Bayesian random-effects bivariate model was performed. QUADAS-2 was used to assess the risk of bias, and GRADE approach was used to ascertain the certainty of evidence.</div></div><div><h3>Results</h3><div>Thirty-eight studies (n = 4667) were included in the systematic review of which 26 studies (n = 3363) were synthesized in a DTA meta-analysis. EEG and aEEG had a sensitivity of 63.9% (95% credible intervals [CrI]: 52.1%, 76.3%) and specificity of 87.6% (80.9%, 94.1%) for the outcome of any NDI (&lt;1 S.D. from the mean value for the CA). For the outcome of severe NDI (&lt;2 S.D.s from the mean value for the CA) (10 studies, n = 1075), the sensitivity was 59.7% (42.3%, 75.9%) and specificity was 85.2% (72.7%, 92.4%). Evidence certainty was very low to low. Subgroup analysis of studies that had utilized Bayley Scales of Infant and Toddler Development between 18 and 30 months CA (12 studies, n = 1202) for neurodevelopmental assessment revealed a sensitivity of 59% (42.3%, 74.7%) and specificity of 83.7% (75.8%, 90.1%) for any NDI.</div></div><div><h3>Conclusion</h3><div>EEG and aEEG possibly have suboptimal sensitivity and an acceptable-to-high specificity in predicting any NDI and severe NDI in preterm infants.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 65-80"},"PeriodicalIF":3.2,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643031","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":"POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences With the Health Care System","authors":"Adam Le MSc ,&nbsp;Kelly-Ann Thibault DEC ,&nbsp;Pouneh Amir Yazdani MD ,&nbsp;Enrico Bertini MD ,&nbsp;Francesco Nicita MD, PhD ,&nbsp;Daniela Pohl MD ,&nbsp;Sunita Venkateswaran MD ,&nbsp;Stephanie Keller MD ,&nbsp;Deborah Renaud MD ,&nbsp;Dolores Gonzales Moron MD, PhD ,&nbsp;Marcelo Kauffman MD, MSc, PhD ,&nbsp;Danilo De Assis Pereira MD ,&nbsp;Adeline Vanderver MD ,&nbsp;Maxime Morsa PhD ,&nbsp;Geneviève Bernard MD, MSc","doi":"10.1016/j.pediatrneurol.2025.02.011","DOIUrl":"10.1016/j.pediatrneurol.2025.02.011","url":null,"abstract":"<div><h3>Background</h3><div>POLR3-related hypomyelinating leukodystrophy (POLR3-HLD) is a rare, inherited neurodegenerative disorder affecting white matter development of the central nervous system. This disorder is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H leukodystrophy). Patients with POLR3-HLD require complex and specialized care; however, due to its rarity and limited awareness, parents often assume additional roles as experts and advocates for their child(ren). We aimed to understand parents’ experiences navigating the health care landscape and to identify potential targets for improvement.</div></div><div><h3>Methods</h3><div>Research team members conducted semi-structured interviews with parents of patients with POLR3-HLD. Interview questions focused on the diagnostic odyssey, availability and access to care, and the perceived quality of care. Interviews were recorded, transcribed, coded, and analyzed using reflexive thematic analysis, and themes surrounding parents’ health care experiences were developed.</div></div><div><h3>Results</h3><div>Nineteen semi-structured interviews were conducted with an international cohort of 24 parents between March and October 2023. Four themes were developed: existing barriers in accessing care, limited knowledge in diagnosis and care, parents as experts and advocates of their child(ren)'s care, and perceived superior care by leukodystrophy specialists. Many parents expressed feeling alone and uncertain, with little guidance provided to them. They also identified perceived gaps in care and challenges faced but found comfort when treated by leukodystrophy experts in specialty clinics.</div></div><div><h3>Conclusions</h3><div>This study will help better inform health care providers, administrators, and policymakers to expand and improve access to quality care for patients with POLR3-HLD and their families. These conclusions may also be generalizable to other rare diseases.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 81-87"},"PeriodicalIF":3.2,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Intrauterine and Postnatal Brain Magnetic Resonance Imaging: Systematic Review","authors":"Anastasija Arechvo MD, PhD ,&nbsp;Kypros H. Nicolaides MD ,&nbsp;Elspeth H. Whitby MBChB, PhD ,&nbsp;Anthony R. Hart MBChB, MRCPCH, PhD","doi":"10.1016/j.pediatrneurol.2025.02.009","DOIUrl":"10.1016/j.pediatrneurol.2025.02.009","url":null,"abstract":"<div><h3>Background</h3><div>Fetal magnetic resonance imaging (MRI) identifies brain abnormalities better than transabdominal ultrasound. Most studies compare fetal MRI with postnatal cranial ultrasound or postmortem, so it is unclear how useful postnatal MRI is after fetal MRI. This work aimed to review the literature on postnatal MRI compared with fetal MRI to determine whether it provided useful clinical information.</div></div><div><h3>Methods</h3><div>A literature search to April 2024 was performed to identify publications on fetal brain abnormalities examined using both fetal MRI and postnatal MRI. A systematic review was performed. The quality of research was evaluated using Joanna Briggs Institute checklists.</div></div><div><h3>Results</h3><div>We identified 24 studies of 401 participants. All identified papers were retrospective or prospective case series at high risk of bias. Fourteen (58.3%) of the studies were high or moderate quality and 10 (41.7%) were low. Postnatal MRI confirmed the findings of fetal MRI in 296 (73.8%), refuted the diagnosis on fetal MRI in 24 (6.2%), and found additional abnormalities in 81 (20.2%). The suspected abnormalities on fetal MRI not confirmed on postnatal MRI were 12 isolated inferior cerebellar vermis hypoplasia, eight cerebellar vermis cysts, one mild ventriculomegaly, and one each of focal white matter abnormality, mega cisterna magna, and an unstated abnormality. Two papers including 17 participants reported that postnatal MRI changed the management or prognosis in nine (52.9%) participants.</div></div><div><h3>Conclusions</h3><div>The evidence on the value of postnatal MRI following a diagnosis of fetal brain abnormality is limited in size and quality, and further prospective research evidence is required.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"166 ","pages":"Pages 47-54"},"PeriodicalIF":3.2,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143641846","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}