Neuropediatrics最新文献

{"title":"Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94.","authors":"Robin Wijngaard, Pinelopi Dragoumi, Kornelia Neveling, Ronald van Beek, Guillaume van de Zande, Ron A Wevers, Dimitrios Zafeiriou, Machteld M Oud, Saskia B Wortmann","doi":"10.1055/a-2856-1470","DOIUrl":"https://doi.org/10.1055/a-2856-1470","url":null,"abstract":"<p><strong>Abstract: </strong>Developmental and epileptic encephalopathy (DEE) is extremely heterogeneous and only 30 to 50% of affected individuals receive a diagnosis upon routine genetic diagnostics. We show that genome sequencing, complemented by optical genome mapping (OGM), resolved an exome-negative case.</p><p><strong>Abstract: </strong>We performed trio short-read genome sequencing, karyotyping, OGM, and quantitative real-time PCR.</p><p><strong>Abstract: </strong>In a boy with DEE (severe global developmental delay/intellectual disability, early-onset, multiple and concurrent seizures, EEG suggestive of Lennox-Gastaut syndrome, dystonic tetraplegia), routine diagnostic testing (karyotyping, array-CGH, and exome sequencing) failed to yield a diagnosis. Genome sequencing detected a <i>de novo</i> translocation that OGM validated and expanded to a complex chromosomal rearrangement (CCR) involving seven breakpoints in chromosomes 5, 9, 12, and 15. The breakpoint on chromosome 15 affected the 5'UTR promotor region of <i>CHD2</i>. Quantitative real-time PCR on RNA from proband-derived lymphoblast cells showed a 40% reduction of <i>CHD2</i> expression confirming the pathogenicity of the variant.</p><p><strong>Abstract: </strong>Our case highlights that CCR can underly <i>CHD2-</i>related DEE94 and likely underlie other (genetically unsolved) cases. There is not one technique that can detect all genetic variants. We emphasize the advantage of combining genome sequencing with OGM as a complementary second step in unresolved cases to improve the detection and structural characterization of genetic variation, including CCRs.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856897","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":"Skin Clues to Acute Hemiparesis: Recognizing Pediatric Arteriovenous Malformation.","authors":"T Däbritz, D Emmanouilidis, J Gerber, C Meissner, C Emde, R Knöfler, M von der Hagen","doi":"10.1055/a-2856-1645","DOIUrl":"10.1055/a-2856-1645","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777579","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":"Repetitive Head Movements: An Unusual Subcortical Myoclonus Presentation.","authors":"Morgana Fregonese, Davide Caputo, Marco Moscatelli, Federica Rachele Danti, Giovanna Zorzi, Federica Graziola","doi":"10.1055/a-2846-8189","DOIUrl":"10.1055/a-2846-8189","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147593535","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":"A retrospective analysis of perinatal stroke: hemostasis abnormalities, neonatal seizures, epilepsy recurrence, and two-year neurological outcome.","authors":"Aude Van Daele, Veerle Labarque, Anneleen Dereymaeker, Katrien Lemmens, Katrien Jansen","doi":"10.1055/a-2868-4302","DOIUrl":"https://doi.org/10.1055/a-2868-4302","url":null,"abstract":"<p><strong>Background: </strong>Neonatal stroke is a rare but potentially severe condition that may lead to long-term neurological impairment. Several factors may influence both its occurrence and outcomes.</p><p><strong>Methods: </strong>In this retrospective single-center cohort study, 46 neonates diagnosed with perinatal stroke were included. We assessed (1) the prevalence and clinical relevance of hemostatic screening, (2) the occurrence and treatment of acute symptomatic seizures, and (3) long-term outcomes such as epilepsy, cerebral palsy, and developmental impairment.</p><p><strong>Results: </strong>A total of 46 patients were included, of whom 24 were preterm and 22 were term. Coagulation screening was performed in 38 patients, revealing abnormal values in 8 cases. Continuous EEG monitoring was conducted in 40 patients, with 26 exhibiting neonatal seizures. Epilepsy developed in 5 children before the age of 2 years. Neurodevelopmental assessment was performed in 31 children, of whom 13 showed signs of developmental delay.</p><p><strong>Discussion: </strong>Few patients had abnormal hemostatic tests. These findings were difficult to interpret due to confounding factors and literature show no association with recurrence. Therefore, routine screening is not currently recommended. Seizures occurred mainly in term infants with neonatal arterial ischemic stroke, usually controlled with one antiseizure medication. Prolonged treatment did not prevent epilepsy. Some developed epilepsy before age 2, at lower rates than reported, possibly due to limited follow-up. Developmental impairment was seen in a minority, mostly term infants. Status epilepticus did not affect outcome. Prospective studies with longer follow-up are needed to identify prognostic markers and guide personalized care.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147840666","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":"Intraventricular Antibiotic Administration for the Treatment of Neonatal Ventriculitis: A Systematic Review.","authors":"Evgenia Lani, Panagiotis Nikolinakos, Catherine Larard, Marina Maria Antonaraki, Nikolaos Zavras, Ioannis Mavridis","doi":"10.1055/a-2856-1574","DOIUrl":"10.1055/a-2856-1574","url":null,"abstract":"<p><strong>Abstract: </strong>Neonatal ventriculitis is a complication of meningitis and is associated with high morbidity and mortality. Despite clinical importance, evidence regarding intraventricular antibiotic therapy has not been systematically collated. To evaluate the existing literature on intraventricular antibiotic administration for neonatal ventriculitis, focusing on indications, antibiotic type, dosage, administration intervals, adverse effects, and patient outcomes. A systematic search of Ovid MEDLINE, PubMed, EMBASE, CENTRAL, and Scopus was conducted up to October 2025. Conference abstracts, letters, reviews, expert opinions, and studies including patients older than 28 days were excluded. Risk of bias was assessed using the Joanna Briggs Institute (JBI) appraisal tools for case reports and case series. The review was prospectively registered on PROSPERO (CRD420251018399). The inclusion criteria were met by 19 studies involving 43 neonates. Ventriculitis followed persistent or inadequately treated meningitis in 21 cases (48.8%). Most neonates (97.7%) received concurrent systemic antibiotics, mostly intravenously. Dosing regimens and administration intervals varied considerably, except for vancomycin, which was consistently administered at 10 mg daily. Overall survival was 79.1%. Clinical and laboratory improvement was reported in 30.2% of cases, while hydrocephalus occurred in 37.2%. Estimated in-hospital mortality was 9.3%, with hydrocephalus the leading cause of death. Intraventricular antibiotic therapy for neonatal ventriculitis has been described in small case series and case reports and may be associated with clinical and laboratory improvement. However, the low level of evidence precludes conclusions of effectiveness. Prospective studies are required to define its role alongside systemic therapy.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147717486","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":"Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.","authors":"N R A Versaevel, A Chapleau, P Topaloğlu, F Nicita, J Sinha, G Bernard, A Fatemi, P Sgobbi, E M C Hamilton, C Marouda, R van Eekelen, M S van der Knaap","doi":"10.1055/a-2851-9956","DOIUrl":"https://doi.org/10.1055/a-2851-9956","url":null,"abstract":"<p><strong>Objective: </strong>To determine which clinical outcomes are most meaningful to patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC) and their caregivers to enhance clinical trial readiness.</p><p><strong>Methods: </strong>An online survey was developed by the MLC Clinical Expert Consortium and Alliance MLC. The survey, available in eight languages, was distributed via treating neurologists and Alliance MLC, and completed anonymously by patients and caregivers. It included open-ended questions on burdensome daily-life aspects, treatment priorities, and therapy expectations; responses were categorized into functional domains. The survey also included a ranking of key symptom domains. Responses were analyzed separately for caregiver- and patient-reported burden. Subgroup analyses were performed for age (<15 years vs. ≥15 years) and country of residence (Türkiye, India, and Italy).</p><p><strong>Results: </strong>Eighty-five surveys representing 83 patients were included. Motor dysfunction was most frequently reported as most burdensome for both caregivers (74%) and patients (58%), followed by communication and activities of daily living (ADL). Within the motor domain, ambulation was most frequently mentioned. Regarding the ranking, motor function scored highest in 69% of respondents. In patients ≥ 15 years, ambulation was less frequently mentioned, whereas ADL dependency was more frequently reported than in patients <15 years. Comparisons between countries revealed few differences. Hopes for therapy were mainly concerned with motor improvement and halting disease progression.</p><p><strong>Conclusion: </strong>Motor function, particularly ambulation, is the most burdensome and prioritized domain for patients with MLC and their caregivers, regardless of age or country. Incorporating patient-centered priorities into future clinical trial design is essential to ensure that emerging therapies target meaningful improvements.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147777594","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":"Diagnosis and Management of Functional Neurological Disorders in Pediatric Patients: A Retrospective Single-Center Study.","authors":"Júlia Matas-Balart, Fernando Paredes-Carmona, Núria Visa-Reñé","doi":"10.1055/a-2854-2311","DOIUrl":"10.1055/a-2854-2311","url":null,"abstract":"<p><strong>Introduction: </strong>Functional neurological disorders (FND) present diagnostic challenges in pediatrics, with an actual incidence likely higher than reported. This study aims to analyze FND cases in our center to optimize patient management and treatment.</p><p><strong>Methods: </strong>We conducted a retrospective, single-center observational study of pediatric patients diagnosed with FND from January 2020 to January 2024. Data were collected from electronic medical records, focusing on patient demographics, symptoms, diagnostic tests, treatments, and outcomes. Statistical analysis included descriptive and inferential statistics to determine associations with recovery.</p><p><strong>Results: </strong>We reviewed 37 patients, with a median age of 11 years and a predominance of females. Motor symptoms were most common (40.5%), followed by sensory disturbances and altered consciousness (29.7%). About 50% of patients presented more than one conversion symptom initially, increasing to 70% over all episodes. Complete symptom recovery was observed in 62% of patients, with recovery associated with motor and visual disorders. No significant associations were found between recovery and sex, psychiatric history, number of tests, or number of concomitant symptoms. Multiple complementary tests were performed in 78.3% of patients. Stress factors were identified in 59.4% of cases, mainly related to school problems.</p><p><strong>Discussion: </strong>FND in children is complex, often involving multiple symptoms. Recovery was positively associated with motor and visual disorders. The high frequency of complementary tests suggests an exclusion-based diagnostic approach. Stress factors, particularly school-related issues, are common. These findings highlight the need for increased follow-up and multidisciplinary interventions to improve outcomes. Further research is necessary to enhance diagnostic and treatment strategies for pediatric FND.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147691374","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":"The Weeke Score Is an Easy-to-Teach and Reliable System for Hypoxic-Ischemic Encephalopathy Brain Magnetic Resonance Imaging Scoring.","authors":"Jun Li, Zarina Assis, Sujith Kumar Reddy Gurram Venkata, James Scott, Mao Ding, Lara Leijser, Hussein Zein, Khorshid Mohammad","doi":"10.1055/a-2844-7341","DOIUrl":"10.1055/a-2844-7341","url":null,"abstract":"<p><p>Magnetic resonance imaging (MRI) is the imaging of choice to diagnose brain injury and prognosticate long-term neurodevelopmental outcomes in infants with hypoxic-ischemic encephalopathy (HIE). Independent scoring from Neuroradiology and Neonatology fellows was obtained for 97 brain MRIs for HIE after teaching. Analysis for reliability was compared against a gold standard of an experienced Neuroradiologist. There was good (intraclass correlation coefficient: 0.87) reliability for the Neonatology fellow and excellent (intraclass correlation coefficient: 0.94) reliability for the Neuroradiology fellow compared with the Neuroradiologist. This suggests that the scoring system used has good interobserver reliability between less experienced readers compared with an experienced reader.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147581787","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":"Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease.","authors":"Yashu Sharma, Anvitha Rallapalli, Sameer Vyas, Arushi Gahlot Saini","doi":"10.1055/a-2796-4587","DOIUrl":"10.1055/a-2796-4587","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"160-161"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119662","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":"Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review.","authors":"Simona Maccora, Vincenzo Di Stefano, Filippo Brighina, Sabrina Sacconi, Angela Puma","doi":"10.1055/a-2731-5029","DOIUrl":"10.1055/a-2731-5029","url":null,"abstract":"<p><p>The diagnosis of peripheral polyneuropathy in children and the differential diagnosis among its various forms often present a challenge, also because electrodiagnostic studies can be painful and sometimes yield inconclusive results. This systematic review examines the role of nerve ultrasound (<i>n</i>-US) in the diagnosis and follow-up of pediatric polyneuropathies. We searched PubMed and Embase from 1975 to April 1, 2025. Included studies assessed patients aged ≤ 18 years with clinically and neurophysiologically confirmed polyneuropathy, providing pediatric-specific qualitative or quantitative <i>n</i>-US findings. Eighteen studies met the inclusion criteria. Six focused on acquired inflammatory polyneuropathies (three on Guillain-Barré Syndrome [GBS], three on Chronic Inflammatory Demyelinating Polyneuropathy [CIDP]), eight on Charcot-Marie-Tooth disease (CMT), two on lysosomal storage disorders, one on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS), and one on mixed etiologies. Most (<i>n</i> = 7) were case reports. Cross-sectional area and nerve enlargement (NE) distribution were the main parameters evaluated. Marked, diffuse NE was found in demyelinating CMT and lysosomal disorders; CIDP showed diffuse and multifocal NE; GBS presented mild and proximal NE. No NE was reported in axonal CMT or ARSACS. Few studies assessed echogenicity or fascicular structure; none evaluated vascularization. <i>n</i>-US shows promise in differentiating demyelinating conditions such as CMT, CIDP, GBS, and certain metabolic syndromes in children. However, further age-matched control studies are needed, given that nerve growth and myelination peak between 15 and 17 years. Future research should explore <i>n</i>-US as an early diagnostic, screening, and follow-up tool.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"81-89"},"PeriodicalIF":1.2,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145377889","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}