Journal of Child Neurology最新文献

{"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 Ozmansur, 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":"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}

{"title":"Intracranial <i>Rhizomucor Pusillus</i> Mucormycosis in an Adolescent Triggering a Stroke Alert: A Case Report and a Systematic Review of Pediatric Cases.","authors":"Rima El Atrache, Melissa Mizerik, Joaquin Francisco Ruiz Lopez, Eric Engstrom, Karla Patricia Salazar, Mikael C Guzman-Karlsson, Daniel Davila-Williams, Sonali Sen, Kristen S Fisher, Jennifer C Erklauer","doi":"10.1177/08830738251334939","DOIUrl":"https://doi.org/10.1177/08830738251334939","url":null,"abstract":"<p><p>Mucormycosis is a rare, life-threatening opportunistic infection primarily affecting immunocompromised patients. The available literature on <i>Rhizomucor pusillus</i> <i>(R pusillus)</i> infections of the central nervous system (CNS) in children is very limited. We present the case of an immunocompromised adolescent with intracranial mucormycosis due to <i>R pusillus</i> manifesting with stroke-like symptoms. This case highlights this rare condition's diagnostic complexity and management challenges. We include a review of the available literature on pediatric <i>R pusillus</i> CNS infections to increase awareness among health care providers.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251334939"},"PeriodicalIF":2.0,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025755","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":"Congenital Localized Hypopigmentation Disorders as a Clue of Severe Neurologic Involvement: An Update Review.","authors":"Piero Pavone, Xena Giada Pappalardo, Filippo Greco, Claudia Parano, Raffaele Falsaperla, Agata Polizzi, Martino Ruggieri","doi":"10.1177/08830738251336408","DOIUrl":"https://doi.org/10.1177/08830738251336408","url":null,"abstract":"<p><p>In clinical practice, cutaneous disorders associated with neurologic involvement are relatively common, as both cutaneous and systems often originate from similar or synchronous embryonic mechanisms. Cutaneous hypopigmentation includes a wide range of disorders that can be categorized congenital and acquired based on the onset, and as localized and generalized types, depending on their skin distribution. Although cutaneous hypopigmentation may appear as a benign clinical manifestation, its association with neurologic or others systemic involvement can indicate more severe underlying disorders. This literature review focuses on congenital localized types of cutaneous hypopigmentation that are classically linked to neurologic impairment. Four congenital disorders were highlighted for their characteristic presentation of localized cutaneous hypopigmentation and neurologic involvement: Waardenburg syndrome, incontinentia pigmenti, hypomelanosis of Ito, and tuberous sclerosis complex.Clinical and genetic findings for these conditions were reviewed and updated, with an emphasis on the cutaneous manifestations, associated systemic anomalies, and neurologic involvement. Established diagnostic criteria and emerging trends in therapeutic approaches were also explored. Promising results, particularly the use of mammalian target of rapamycin (mTOR) in the treatment of tuberous sclerosis complex, highlight the potential for improved outcomes. Early diagnosis, rapid treatment, and innovative therapies may play a crucial role in positively altering the clinical course of these disorders.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251336408"},"PeriodicalIF":2.0,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020060","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":"Retrospective Study of the Efficacy of Biofeedback Therapy for Pediatric Persistent Posttraumatic Headache.","authors":"Anisha C Schwarz, Cora C Breuner, Heidi K Blume","doi":"10.1177/08830738241312942","DOIUrl":"10.1177/08830738241312942","url":null,"abstract":"<p><p>BackgroundPosttraumatic headache is common in pediatrics. Studies have examined treatment of postconcussion symptoms, but few target posttraumatic headache. Biofeedback therapy has been studied in children and teens with primary headaches, but not posttraumatic headache. Our goal was to examine the changes in posttraumatic headache associated with biofeedback therapy in pediatric patients.MethodsThis retrospective study included 74 children aged 10-18 years who received biofeedback therapy for posttraumatic headache. \"Positive response\" to biofeedback therapy was defined as ≥50% reduction in headache days per week, or 3-point drop in pain rating between the first and last biofeedback therapy visits. Patient characteristics were analyzed using logistic regression to identify factors associated with response.ResultsIn our cohort, 42% of all patients with posttraumatic headache had a positive response to biofeedback therapy. Thirty-six percent experienced ≥50% decrease in headache frequency, 13% had a ≥3-point decrease in headache severity and 8% reported both changes. For those with daily headaches, 36% had a positive response to biofeedback therapy. School absences, selective serotonin reuptake inhibitor or prescription preventive medication use were associated with nonresponse.ConclusionsBiofeedback therapy is a reasonable treatment to consider to manage pediatric posttraumatic headache because more than 40% of our cohort had a beneficial response and biofeedback therapy has few adverse effects.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"357-365"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006212","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":"Introducing the New Editor-in-Chief of the <i>Journal of Child Neurology</i>.","authors":"Alison Christy","doi":"10.1177/08830738241309710","DOIUrl":"10.1177/08830738241309710","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"317"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949610","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":"Brain and Spine Magnetic Resonance Imaging (MRI) Characteristics of a Pediatric Cohort With MOGAD.","authors":"Matthew Doerfler, James Zhang, Jennifer Rubin, Alok Jaju, Jessie Aw-Zoretic","doi":"10.1177/08830738251315974","DOIUrl":"10.1177/08830738251315974","url":null,"abstract":"<p><p>Background and ObjectivesMyelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently defined demyelinating disorder with an age-related phenotypic spectrum. At disease onset, there is considerable clinical overlap between MOGAD and other demyelinating conditions, and it remains difficult to identify MOGAD radiographically. This study aims to further describe neuroimaging findings in the brain and the spine at presentation and throughout relapses in children with MOGAD.MethodsWe present a retrospective cohort study including all children presenting to a single center between 2010 and 2020 with acute demyelination who were positive for serum MOG-IgG antibodies and negative for serum aquaporin-4 antibodies. For each patient, magnetic resonance imaging (MRI) scans of the brain and spine at presentation and on each relapse were reviewed and categorized in a blinded fashion by 2 pediatric neuroradiologists.ResultsSixteen patients met the inclusion criteria. Four had diffuse and bilateral fluid-attenuated inversion recovery signal in the white matter, but only on initial presentation. The area postrema was never affected. All 5 patients with optic neuritis had pre-chiasmatic (but not chiasmatic) involvement on presentation. The brachium pontis was involved in 3 patients on initial presentation, and in 8 patients at any time. Eleven patients demonstrated spinal cord involvement, and the cervical, thoracic, and lumbar regions were involved at similar frequencies.DiscussionThe radiographic features of MOGAD in children appear to reflect their presenting demyelinating syndromes. However, certain features, such as diffuse fluid-attenuated inversion recovery hyperintensities and expansile fluid-attenuated inversion recovery signal in the brachium pontis, may be more frequent in MOGAD compared with other demyelinating disorders.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"348-356"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143189074","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}