Journal of Child Neurology最新文献

{"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":"https://doi.org/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":"8830738251339048"},"PeriodicalIF":2.0,"publicationDate":"2025-05-16","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":"Surviving Grade 4 ICANS: A Case Report and Discussion of Emerging Management Strategies.","authors":"Alexander J Jonokuchi, Amy W Yu, Gurcharanjeet Kaur, Prakash Satwani, Ran Reshef, Sarah F Wesley","doi":"10.1177/08830738251335055","DOIUrl":"https://doi.org/10.1177/08830738251335055","url":null,"abstract":"<p><p>Chimeric antigen receptor (CAR) T-cell therapy is increasingly used in both oncologic and nononcologic conditions. Although low-grade neurotoxicity may be easily treated, severe neurotoxicity remains clinically challenging and many times fatal. We present the case of a young adult with relapsed acute lymphoblastic leukemia who developed grade 4 immune effector cell-associated neurotoxicity syndrome (ICANS), manifesting as severe cerebral edema refractory to first-line therapies. We share our treatment strategy consisting of multiple lines of targeted immunotherapy and proactive intracranial pressure monitoring. The patient survived and continues to remain in remission with meaningful neurologic recovery. Because of the growing use of chimeric antigen receptor T-cell therapies, neurologists need to be aware and ready to treat these potentially fatal cases.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335055"},"PeriodicalIF":2.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078317","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":"Experiences and Therapy Needs of Parents With an Infant at High Risk for Development of Unilateral Spastic Cerebral Palsy: A Qualitative Interview Study.","authors":"Cornelia H Verhage, Maria J C Eijsermans, Madelon Kleingeld, Marjolijn Ketelaar, Jan Willem Gorter, Linda S de Vries, Marco van Brussel, Agnes van den Hoogen","doi":"10.1177/08830738251335052","DOIUrl":"https://doi.org/10.1177/08830738251335052","url":null,"abstract":"<p><strong>Aim: </strong>To understand experiences and therapy needs of parents with an infant with unilateral perinatal brain injury and at high risk for unilateral spastic cerebral palsy in the first year. <b>Patients and Methods:</b> Sixteen parents (from 8 children with unilateral spastic cerebral palsy, 3 without) diagnosed with unilateral perinatal brain injury participated in semistructured interviews. Data were analyzed using thematic analysis. <b>Results:</b> The overarching theme, \"an unexpected journey,\" included 4 subthemes: (1) \"A roller coaster start\"-stressful initial experiences on a neonatal intensive care unit; (2) \"Wishing for a crystal ball\"-need for information on (future) development; (3) \"Reaching for the stars\"-value of therapist guidance in supporting infant development; (4) \"Growing seeds of confidence\"-increased parental confidence in their child's development and their role. <b>Conclusion:</b> Parents have information needs about their child's (future) neurodevelopment. Physical or occupational therapists provide information, monitor motor progress, and guide parents in supporting development and can offer needed reassurance.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251335052"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078250","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 Simple Intervention Improves Access to Telemedicine for Spanish-Speaking Families in an Outpatient Pediatric Epilepsy Clinic.","authors":"Pamela Pojomovsky McDonnell, Yessenia Ortiz, Nicholas S Abend, Michael C Kaufman, Julie Xian, Alexander K Gonzalez, Sara Molisani, Ingo Helbig","doi":"10.1177/08830738251337981","DOIUrl":"https://doi.org/10.1177/08830738251337981","url":null,"abstract":"<p><p>Telemedicine has become an established modality of care in pediatric neurology since the COVID-19 pandemic made it a necessity. However, prominent barriers have persisted for socially vulnerable families, including non-English-speaking families. In a cohort of Spanish-speaking families, we assessed the effect of an educational intervention in improving patient portal activation and use of telemedicine by doing a retrospective observational study. Among the 69 families assessed, 42 did not receive intervention, including 74% who already had patient portals and 26% without portal activation, and none of those 11 families subsequently activated the portal or underwent telemedicine. Among 27 families who received the intervention, 85% activated the portal, including 87% who participated in telemedicine visits. Results did not achieve statistical significance for accessing telemedicine but did for activating the portal. We postulate that a simple, brief educational intervention was effective in increasing access to neurologic telemedicine care in non-English-speaking families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251337981"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078097","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":"Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.","authors":"Francesco Gavazzi, Emily Yu, Zarrin Tashnim, Sarah Woidill, Anjana Sevagamoorthy, Kaley Arnold, Louisa Ammann-Schnell, Samuel Groeschel, Ingeborg Krägeloh-Mann, Vivian Breitling, Lars Schlotawa, Rebecca Ahrens-Nicklas, Laura A Adang","doi":"10.1177/08830738251339848","DOIUrl":"https://doi.org/10.1177/08830738251339848","url":null,"abstract":"<p><p>Despite their importance, rare diseases' impact on patients and families is understudied. This is particularly true for ultrarare disorders, such as multiple sulfatase deficiency (MSD), a pediatric neurodegenerative disorder. To address this gap, we captured caregiver perspectives on how multiple sulfatase deficiency affects their child, themselves, and their families regarding adaptive behaviors and health-related quality of life.Overall, 19 multiple sulfatase deficiency caregivers participated in assessments capturing health outcomes related to daily functional abilities (Vineland Adaptive Behavior Scale-Third Edition [VABS-3]: n = 19), child health-related quality of life (Caregiver Priorities and Child Health Index of Life with Disabilities: n = 12; Pediatric Quality of Life Inventory-generic core scales: n = 13), and caregiver health-related quality of life (Pediatric Quality of Life Inventory-family impact module: n = 12; Traumatic Brain Injury Caregiver Quality of Life: n = 15). The Pediatric Quality of Life Inventory-family impact module results were compared to a data set from metachromatic leukodystrophy (n = 30), a rare disease with an overlapping sulfatase deficiency.The Vineland Adaptive Behavior Scale-Third Edition captured global impairment across domains in multiple sulfatase deficiency. Despite these functional limitations, the Caregiver Priorities and Child Health Index of Life with Disabilities and Pediatric Quality of Life Inventory-generic core scales captured relative preservation of health-related quality of life, especially related to emotional well-being. Compared with the Pediatric Quality of Life Inventory-generic core scales, the Caregiver Priorities and Child Health Index of Life with Disabilities captured a broader spectrum of health-related quality of life across all domains and caregivers' top priorities in disease management and care coordination. The health-related quality of life of caregivers was severely impacted, with caregivers reporting profound feelings of grief and entrapment. Additionally, there was a similar caregiver burden between multiple sulfatase deficiency and metachromatic leukodystrophy.Our results will help inform psychosocial outcome measures for rare disease families and patient-centered endpoints in impending multiple sulfatase deficiency clinical trials.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339848"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078252","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":"Embolic Stroke After Atrial Septal Defect Surgery in a Child.","authors":"Filippos-Paschalis Rorris, Meletios Kanakis, Maria Kontou, Tatiana Rorri, Sofia Vassilopoulou, Dimitrios Bobos, Thomas Vrachliotis, Panagiotis Papanagiotou","doi":"10.1177/08830738251332985","DOIUrl":"https://doi.org/10.1177/08830738251332985","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251332985"},"PeriodicalIF":2.0,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144078207","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":"Ethosuximide Induced Raynaud's Phenomenon in a Child With Childhood Absence Epilepsy.","authors":"Akshaya Rathin Sivaji, Jennifer Fittro, Adina Chirla, Alexander Namrow, Jun Park","doi":"10.1177/08830738251339571","DOIUrl":"https://doi.org/10.1177/08830738251339571","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251339571"},"PeriodicalIF":2.0,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009385","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":"Approach to Progressive Myoclonic Epilepsies: Clinical Clues for Genetic Testing.","authors":"Prasanthi Aripirala, Sujit Abajirao Jagtap","doi":"10.1177/08830738251337972","DOIUrl":"https://doi.org/10.1177/08830738251337972","url":null,"abstract":"<p><p>Progressive myoclonic epilepsy is a heterogeneous group of disorders characterized by drug-resistant epilepsy, cognitive decline, and ataxia. Genetic testing is crucial for diagnosis, but the choice of test depends on the variant type. We present a case of an adult with a PME phenotype since age 17 years, remaining undiagnosed for 4 years because of improper genetic testing. His father had progressive ataxia with a spinocerebellar ataxia phenotype. The unique presentation, combined with autosomal dominant inheritance and anticipation, suggested dentatorubral-pallidoluysian atrophy. <i>ATN1</i> gene polymerase chain reaction testing confirmed trinucleotide repeat expansion. This case highlights the importance of selecting the appropriate genetic test for accurate diagnosis. We propose a flowchart based on clinical history and findings to narrow down differential diagnoses and guide the choice of testing.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251337972"},"PeriodicalIF":2.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144002526","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":"Cerebral Palsy in a Rural Desert Population of Southern Algeria: A Cross-Sectional Study of Epidemiology of Comorbidities and Unmet Needs.","authors":"Linda Bonezzi, Ilaria Accorinti, Francesca Maria Agostina Papoff, Maria Orsi, Giacomo D'Arcangelo, Emanuele Bartolini, Roberta Battini","doi":"10.1177/08830738251336486","DOIUrl":"https://doi.org/10.1177/08830738251336486","url":null,"abstract":"<p><p>BackgroundCerebral palsy is a group of nonprogressive motor disorders resulting from early brain development impairment. Its prevalence is higher in low- and middle-income countries, where health care resources are limited. Data on cerebral palsy in refugee settings remain scarce, particularly in regions marked by prolonged displacement.MethodsThis cross-sectional study examined 29 children with cerebral palsy in the Sahrawi refugee camps in Tindouf, Algeria. Detailed demographic, medical history, neurological findings, and comorbidity data were collected during outpatient visits conducted as part of a humanitarian mission.ResultsPerinatal distress was reported in 65.5% of cases. Motor impairments were significant, with only 44.8% able to walk and 20.7% lacking head control. Language delays (65.5%), feeding difficulties (65.5%), and epilepsy (52%) were highly prevalent. Diagnostic evaluations, such as magnetic resonance imaging (MRI) and electroencephalography (EEG), were scarce and inconsistent. Access to rehabilitation services was discontinuous, and pharmacologic treatments for spasticity and pain were unavailable. Environmental factors, such as sandy terrain, further complicated mobility.ConclusionCerebral palsy in the Sahrawi refugee camps reflects patterns seen in low- and middle-income countries but is exacerbated by displacement and resource scarcity. Improved access to early diagnosis, structured rehabilitation, and targeted pharmacologic therapies is urgently needed to address these unmet needs and improve outcomes for affected children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251336486"},"PeriodicalIF":2.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007497","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":"Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.","authors":"Seda Kanmaz, Sanem Yılmaz, Nihal Olgaç Dündar, Ayşe Aksoy, Mehmet Canpolat, Hüseyin Per, İlknur Erol, Hakan Gümüş, Yasemin Özkale, Selcan Öztürk, Dilara Ece Toprak, İbrahim Öncel, Murat Özkale, Elif Nurdan Mansur, Hepsen Mine Serin, Gülşen Ersöz, Şeyda Besen, Gülen Gül Mert, Ayten Güleç, Sevim Şahin, Cemile Büşra Ölçülü, Ayberk Selek, Serdar Pekuz, Günce Başarır, Çağatay Günay, Didem Biçer, Zehra Filiz Kahraman, Deniz Yüksel, Meral Karadağ, Erdem Şimşek, Aycan Ünalp, Nihal Yıldız, Meltem Çobanoğulları Direk, Uluç Yiş, Hüseyin Tan, Cengiz Havalı, Aydan Değerliyurt, Mesut Güngör, Özlem Hergüner, Elif Perihan Oncel, Olcay Ünver, Sefer Kumandaş, Hale Atalay Celik, Bilge Özgör, Ali Cansu, Aslı Kübra Atasever, Ayşe Tosun, Olcay Güngör, Çetin Okuyaz, Selvinaz Edizer, Semra Hız, Esra Sarıgeçili, Hülya Kayılıoğlu, Ceren Durgun Yazgan, Gökçen Öz Tuncer, Pınar Gençpınar, Ünsal Yılmaz, Su Özgür, Hasan Tekgül, Banu Anlar","doi":"10.1177/08830738251334219","DOIUrl":"https://doi.org/10.1177/08830738251334219","url":null,"abstract":"<p><p>ObjectivesTo evaluate the demographic, clinical, laboratory, and prognostic data of children with acute disseminated encephalomyelitis with respect to anti-myelin oligodendrocyte glycoprotein (MOG) antibody status.MethodsAcute disseminated encephalomyelitis patients (n = 245) from 24 centers followed up between 2010 and 2022 were evaluated retrospectively. The short- and long-term outcome characteristics (disease severity and course, clinical relapse, and recovery rates) were assessed. Incomplete clinical recovery was defined as modified Rankin Score ≥1 or the presence of epilepsy. Univariant and multivariant analysis were performed for outcome characteristics.ResultsThe mean age at diagnosis was 6.3 ± 3.8 (0.5-17.7) years and the median follow-up was 22 (3-132) months. The outcome characteristics were evaluated in 180 of 245 patients (73.4%) with at least 12 months' follow-up. Twenty-three patients (12.6%) relapsed. The multivariable logistic regression analysis revealed the following clinical parameters as predictors of relapse: sex, visual impairment, and ataxia at initial presentation. Incomplete clinical recovery (n = 42/180, 23.3%) was associated with the presence of seizures on admission and the need for an intensive care unit. Anti-MOG antibody positivity was not associated with an increased risk of relapse (25% vs 13.1%, <i>P</i> = .164) or incomplete clinical recovery (<i>P</i> = .511).ConclusionThe nationwide cohort presented further supports the typically monophasic nature of acute disseminated encephalomyelitis, and a high rate of complete recovery. The presence of certain symptoms in the acute period may assist the clinician in estimating the outcome.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251334219"},"PeriodicalIF":2.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967700","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}