Journal of Child Neurology最新文献

{"title":"Temporally Dissociated Neurophysiologic Findings in Pediatric Bickerstaff Brainstem Encephalitis: A Case Report.","authors":"Panhui Yu, Le Wang, Hongxia Tang, Wenjuan Wu, Mei Jin, Jing Liu, Fang Chen","doi":"10.1177/08830738261477904","DOIUrl":"https://doi.org/10.1177/08830738261477904","url":null,"abstract":"<p><p>Bickerstaff brainstem encephalitis (BBE) is rare in children, and neurophysiologic abnormalities may be detected and resolve at different times. A 12-year-old boy developed ophthalmoplegia, ataxia, somnolence, hyporeflexia, and weakness after a respiratory illness. On illness day 3, cerebrospinal fluid protein and magnetic resonance imaging were normal. On day 4, distal limb studies and needle electromyography were unrevealing, but tibial F-wave persistence was reduced, bilateral R1 and R2 blink responses were absent despite preserved facial compound muscle action potentials, and electroencephalography showed slowing. By days 15-16, albuminocytologic dissociation was present and the blink reflex had normalized, whereas F-wave persistence had declined; sensory nerve conduction, lower-limb sympathetic skin responses, and brainstem auditory evoked responses were abnormal. By day 84, limb electrophysiology and electroencephalography were normal, while the auditory waveform abnormality persisted. This case demonstrates temporally dissociated detection and recovery across pathways and supports serial multimodal reassessment when early routine studies are nondiagnostic.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261477904"},"PeriodicalIF":1.6,"publicationDate":"2026-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148828485","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":"Neurophysiological Basis of Mirror Movements in Schizencephaly: A Case Report.","authors":"Nitish Kamble, Nagaraj Ar, Hansashree Padmanabha, Pramod Kumar Pal","doi":"10.1177/08830738261480881","DOIUrl":"https://doi.org/10.1177/08830738261480881","url":null,"abstract":"<p><p>Mirror movements (MMs) are involuntary movements on one side of the body that mimic voluntary movements on the opposite side. Schizencephaly is an uncommon congenital neuronal migration disorder characterised by the presence of a trans-mantle column of heterotopic grey matter, with or without a full-thickness cleft filled with cerebrospinal fluid, which links the pial surface of the cerebral hemisphere with the ependymal surface of the lateral ventricle. We report a case of a 13-year-old child with unilateral schizencephaly who presented with MMs. Transcranial magnetic stimulation was used to understand the neurophysiology of MMs. Single-pulse and paired-pulse stimulation were done. The silent period was shortened with absent short-interval intracortical inhibition and reduced intracortical facilitation. This suggests reduced GABAergic and glutamatergic transmission in the brain. These altered neurophysiological parameters, along with motor cortex re-organisation, may account for MMs in our case.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261480881"},"PeriodicalIF":1.6,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793787","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 Effects of Aerobic Exercise on Pediatric Headache-Related Disability and Quality of Life: A Pilot Randomized Controlled Trial.","authors":"Erin Artna, Deepti Reddy, Kitty Chen, Patricia E Longmuir, Daniela Pohl","doi":"10.1177/08830738261476485","DOIUrl":"https://doi.org/10.1177/08830738261476485","url":null,"abstract":"<p><p>This pilot randomized-controlled trial aimed to evaluate the impact of aerobic exercise on (1) headache-related disability, via the Pediatric Migraine Disability Assessment Scale, and (2) quality of life, via the Pediatric Quality of Life Inventory and KIDSCREEN-27. Participants (8-17 years of age) were randomized at an initial 1:1 ratio revised to 2:1 to a 4-week at-home program of daily aerobic exercise or stretching. Nineteen participants (89% female, mean age = 14.3 ± 2.2 years) completed the study. There were clinically meaningful differences in headache-related disability in both groups from baseline to post-study (standardized mean change, Hedges' g, in aerobic exercise group: 0.53 [95% CI: -0.29, 1.35]; stretching group: 0.71 [95% CI: -0.27, 1.66]), but no differences in quality of life (<i>P</i> values ranging from 0.06 to 1.00 across all domains). When considered alongside the broader health benefits of exercise documented elsewhere, our findings represent a preliminary signal warranting further investigation of exercise training as a potential care pathway for pediatric headache. Given our limited sample size, these findings should be interpreted with caution, and alone are insufficient to inform clinical recommendations. This study was limited by poor enrollment over 5 years and higher rates of drop-out in the aerobic exercise group. Future studies should seek to define and overcome feasibility barriers associated with exercise-based interventions.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261476485"},"PeriodicalIF":1.6,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793798","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 Relationship Between Limb Dystonia Severity and Functional Impact in Children With Cerebral Palsy.","authors":"Emma Lott, Susie Kim, Joanna Blackburn, Rose Gelineau-Morel, Dararat Mingbunjerdsuk, Jennifer O'Malley, Laura Tochen, Jeff L Waugh, Steve Wu, Bhooma R Aravamuthan","doi":"10.1177/08830738261477966","DOIUrl":"https://doi.org/10.1177/08830738261477966","url":null,"abstract":"<p><p>Dystonia treatment evaluation in cerebral palsy (CP) is limited by the lack of clinician-assessed scales linking dystonia severity to functional impact. We asked 7 pediatric movement disorder specialists to review videos of 27 children with CP while performing an upper extremity task and while walking. Experts rated arm and leg dystonia severity using the Global Dystonia Severity Rating Scale (GDRS) and task-specific functional impact on a 5-point scale adapted from the Dyskinetic Cerebral Palsy Functional Impact Scale. Arm GDRS scores correlated with functional impact on the upper extremity task (linear regression <i>R</i>² = 0.48, <i>P</i> = .0005). Leg GDRS scores correlated with gait impact (<i>R</i>² = 0.43, <i>P</i> = .001). A 4-point increase in total GDRS corresponded to a 1-point worsening in combined functional impact. By demonstrating how expert-rated limb dystonia severity correlates with functional impact in children with CP, these results could help clinically identify functionally meaningful differences in dystonia severity.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261477966"},"PeriodicalIF":1.6,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793767","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":"Day 1 Cranial Ultrasonography Detects Prenatal Brain Abnormalities in Preterm Infants: A Retrospective Cohort Study.","authors":"Rim Kasem Ali Sliman, Michal Molad, Dan Waisman, Karen Lavie Nevo, Marina Soloveichick","doi":"10.1177/08830738261472010","DOIUrl":"https://doi.org/10.1177/08830738261472010","url":null,"abstract":"<p><p>BackgroundCurrent guidelines recommend cranial ultrasonography (CUS) screening at 7-14 days for infants <30 weeks of gestation. However, emerging evidence suggests that significant prenatal brain injuries may be missed by delayed screening protocols.ObjectiveTo evaluate the diagnostic yield of day 1 CUS in identifying prenatal brain abnormalities across all preterm gestational ages.MethodsRetrospective cohort study of 365 preterm infants (24.0-36.6 weeks of gestation) who underwent CUS within 24 hours of birth at a tertiary neonatal intensive care unit (June 2014-July 2020). CUS findings were analyzed by gestational age groups, with particular attention to signs of prenatal hemorrhage and white matter abnormalities. Images were independently reviewed by 2 board-certified neonatologists with consensus review for discordant cases.ResultsDay 1 CUS revealed pathologic findings in 141 of 365 infants (38.6%), with gestational age-dependent prevalence: 44 of 69 (63.8%) extremely preterm (24-30 weeks), 53 of 129 (41.1%) very preterm (30.1-33.6 weeks), and 44 of 167 (26.3%) moderate to late preterm (34-36.6 weeks). Intraventricular hemorrhage (IVH) occurred in 58 of 365 infants (15.9%), with 31 of 58 cases (53.4%) showing clot liquefaction suggestive of prenatal onset. Critically, 14 of 58 IVH cases (24.1%) completely resolved on follow-up imaging. White matter lesions were identified in 49 of 365 infants (13.4%), demonstrating marked gestational age dependence: 25 of 69 (36.2%) extremely preterm, 23 of 129 (17.8%) very preterm, and 1 of 167 (0.6%) moderate-late preterm infants.ConclusionsDay 1 CUS identifies findings suggestive of prenatal brain pathology across all preterm gestational ages. Nearly one-quarter of early IVH cases resolve before conventional screening times. These findings suggest that earlier CUS may warrant further evaluation as a potential adjunct to current protocols; however, prospective studies with neurodevelopmental follow-up are needed before any change to screening practice can be recommended.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261472010"},"PeriodicalIF":1.6,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793661","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":"From Metabolic Crises to Epileptic Encephalopathy: TANGO2 Deficiency Disorder due to Homozygous Multi-exon Deletion.","authors":"Shagun Singh, Sanjhi Paliwal, Shubham Raj, Vikas Bhatia, Charu Sharma, Arushi Gahlot Saini","doi":"10.1177/08830738261475543","DOIUrl":"https://doi.org/10.1177/08830738261475543","url":null,"abstract":"<p><p>TANGO2 deficiency disorder is a rare, autosomal recessive, neurometabolic condition typically characterized by recurrent metabolic crises, rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. We report a 5-year-old boy with normal early development followed by fever-triggered metabolic encephalopathy from 10 months, associated with severe high anion-gap metabolic acidosis. He subsequently developed epileptic spasms with hypsarrhythmia, evolving into refractory epilepsy and profound developmental impairment. Serial neuroimaging showed early cortical diffusion restriction followed by progressive cerebral atrophy. Notably, classical features such as rhabdomyolysis, cardiac involvement, and TANGO2 spells were absent, and metabolic evaluation was largely unremarkable between episodes. Genetic analysis identified a homozygous 3.6-kb deletion involving exons 4 to 6 of the <i>TANGO2</i> gene. This case highlights that TANGO2 deficiency may present predominantly as a developmental and epileptic encephalopathy phenotype and is more commonly due to multi-exon deletions rather than single-nucleotide variations as seen in other inherited metabolic disorders. Early genetic testing, including copy number analysis, is essential for diagnosis and management.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261475543"},"PeriodicalIF":1.6,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793744","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":"Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From <i>CREBBP</i> and <i>EP300</i> Variants.","authors":"Serap Ketenci İşlek, Gizem Ürel Demir, Gülen Eda Utine, Pelin Özlem Şimşek Kiper","doi":"10.1177/08830738261474118","DOIUrl":"https://doi.org/10.1177/08830738261474118","url":null,"abstract":"<p><p>Menke-Hennekam syndrome types 1 and 2 (MKHK1 and MKHK2) are autosomal dominant neurodevelopmental disorders characterized by psychomotor developmental delay, intellectual disability, and dysmorphic features. MKHK1 is caused by heterozygous variants in exons 30-31 of the <i>CREBBP</i> gene, whereas MKHK2 results from heterozygous variants in <i>EP300</i>. Although these genes are classically associated with Rubinstein-Taybi syndrome (RTS), Menke-Hennekam syndrome presents a distinct phenotype despite involvement of the same alleles. We report 2 patients who exhibited developmental delay, intellectual disability, and dysmorphic features without typical RTS findings. Genetic analysis revealed a novel frameshift variant in <i>EP300</i> in one patient and a de novo missense variant in <i>CREBBP</i> in the other. Long-term follow-up and increasing use of whole-exome sequencing have facilitated recognition of Menke-Hennekam syndrome as a distinct clinical entity. Reporting 2 patients with exon 31 variants in <i>CREBBP</i> and <i>EP300</i>, we aim to improve awareness and diagnostic accuracy of this rare disorder.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261474118"},"PeriodicalIF":1.6,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148793722","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 Newly Identified <i>YIF1B</i> Frameshift Variant Causing Kaya-Barakat-Masson Syndrome.","authors":"Sabire Gokalp, Asburce Olgac, Fehime Erdem Karapinar, Abdullah Sezer","doi":"10.1177/08830738261474029","DOIUrl":"https://doi.org/10.1177/08830738261474029","url":null,"abstract":"<p><p>BackgroundKaya-Barakat-Masson syndrome (KABAMAS) is a recently described autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in <i>YIF1B</i>, a gene crucial for trafficking between the endoplasmic reticulum and the Golgi apparatus. Disruption of this pathway leads to Golgi disorganization and neuronal dysfunction, resulting in severe developmental delay, visual impairment, and progressive spasticity.Case PresentationWe report an 11-month-old Turkish girl with profound developmental delay, absent head control, poor feeding, laryngomalacia and cortical visual impairment. Brain magnetic resonance imaging (MRI) revealed corpus callosum thinning and mild ventriculomegaly. Comprehensive metabolic investigations were unrevealing. Whole exome sequencing analysis identified a novel homozygous <i>YIF1B</i> frameshift variant, c.440_441delinsA (p.Ala147Aspfs*51), predicted to cause loss of function.ConclusionThis case broadens the mutational spectrum of <i>YIF1B</i>-related disease and highlights the distinctive clinical pattern of KABAMAS. Recognition of the combination of developmental delay, cortical visual loss, and normal metabolic studies should prompt early genetic analysis. Timely molecular diagnosis enables accurate counseling and multidisciplinary management for affected families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261474029"},"PeriodicalIF":1.6,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148761706","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":"Seizure Action Plans Beyond the Neurology Clinic: What Emergency, School, and Primary Care Teams Need to Know for Children With Epilepsy.","authors":"Matthew Chase Lustig","doi":"10.1177/08830738261472511","DOIUrl":"https://doi.org/10.1177/08830738261472511","url":null,"abstract":"<p><p>Most seizures in children with epilepsy occur outside the neurology clinic. Seizure action plans (SAPs) are designed to extend the neurologist's management plan into these settings. Early SAPs primarily targeted caregivers, while current plans target not only caregivers but also teachers, other medical providers, and anyone else who may be able to intervene on behalf of these children. Some studies suggest that SAPs can improve caregiver knowledge, comfort, and confidence with rescue medication administration. However, evidence that SAPs reduce emergency department use or affect other downstream outcomes is less consistent. This topical review summarizes evidence from the past decade on pediatric SAPs across home, school, emergency medical services, emergency departments, primary care, and residential or long-term care settings.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261472511"},"PeriodicalIF":1.6,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148706848","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":"Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.","authors":"Diego Armando Nájera-Eguía, Estefanía Villarreal-Garza, Laura Elia Martínez-de-Villarreal, Marcelo R Rodríguez-Rivera, Joel Arenas-Estala, Graciela Arelí López-Uriarte, Marisol Ibarra-Ramírez","doi":"10.1177/08830738261472512","DOIUrl":"https://doi.org/10.1177/08830738261472512","url":null,"abstract":"<p><p>BackgroundTANGO2-related disorder (TDD) is a rare autosomal recessive condition characterized by episodic metabolic crises, rhabdomyolysis, encephalopathy, and life-threatening cardiac arrhythmias, with marked phenotypic variability that often contributes to delayed diagnosis.Case presentationWe report 2 sisters homozygous for the recurrent <i>TANGO2</i> variant c.460G>A (p.Gly154Arg), identified in a family of Hispanic/Latino ancestry, who exhibited divergent clinical presentations. The older sibling presented with developmental delay and recurrent fasting-induced hypoglycemia associated with hyperCKemia and episodic weakness, whereas the younger sibling showed early hypotonia, ataxia, behavioral dysregulation, and subclinical hypothyroidism without initial metabolic crises. Brain magnetic resonance imaging studies were normal in both patients. In both cases, routine metabolic testing was largely unremarkable between episodes, and early manifestations were interpreted within isolated subspecialty frameworks, delaying diagnostic integration.ConclusionThese cases highlight intrafamilial variability within the recognized TDD spectrum and underscore the importance of early recognition of neurologic and endocrine features as potential red flags. Prompt molecular diagnosis is essential to guide anticipatory management and reduce morbidity and mortality.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738261472512"},"PeriodicalIF":1.6,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148700423","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}