Journal of Child Neurology最新文献

{"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}

{"title":"Thanks to Reviewers.","authors":"","doi":"10.1177/08830738251317213","DOIUrl":"https://doi.org/10.1177/08830738251317213","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":"40 5","pages":"391-393"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999106","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":"Exploring the Correlations Between Language Impairments, Central Auditory Processing Disorder, Neuropsychiatric Functions, and Seizure Timing in Children With Self-Limited Epilepsy With Centrotemporal Spikes.","authors":"Oğuzhan Tin, Sema Saltık, Halide Çetin Kara, Zehra Koyuncu, Kevser Sak, Aysun Ayaz Sarı, Burak Doğangün, Serhat Güler","doi":"10.1177/08830738241304864","DOIUrl":"10.1177/08830738241304864","url":null,"abstract":"<p><p>BackgroundChildren with self-limited epilepsy with centrotemporal spikes often face language impairments and central auditory processing difficulties. The correlations between these issues, seizure timing, and neuropsychiatric challenges are not fully understood. This study delves into the connections between language impairments and central auditory processing difficulties in cases with self-limited epilepsy with centrotemporal spikes, examining their links with seizure occurrence and neuropsychiatric function.Materials and MethodsPatients with self-limited epilepsy with centrotemporal spikes were categorized based on seizure timing: group 1 experienced seizures postbedtime, and group 2 prewaking. Both, alongside controls, underwent the Turkish Expressive and Receptive Language Test (TIFALDI) for language skills, and the Frequency Pattern and Duration Pattern tests for central auditory processing difficulties. Neuropsychiatric assessments involved the Wechsler Intelligence Scale for Children-Revised, the Strengths and Difficulties Questionnaire, the Conners Parent Rating Scale-Revised Short, and the Barratt Impulsiveness Scale-11.ResultsThe study comprised 56 patients with self-limited epilepsy with centrotemporal spikes (ages 6-13) and 32 healthy controls. Both groups significantly lagged behind controls on the Frequency Pattern and Duration Pattern tests (<i>P</i> < .001). In the TIFALDI, the expressive language scores varied between group 1 and controls (<i>P</i> = .04) but not the receptive language scores or the test's expressive and receptive language results between group 2 and controls (<i>P</i> > .05). In the Strengths and Difficulties Questionnaire, group 1 diverged from controls in behavioral and kind and helpful behavior scores (<i>P</i> = .016 and <i>P</i> = .012). Group 1's Barratt Impulsiveness Scale-11 values surpassed controls' (<i>P</i> = .038).ConclusionChildren with self-limited epilepsy with centrotemporal spikes have a high central auditory processing difficulties prevalence, regardless of seizure timing. Those with postsleep seizures tend to confront expressive language difficulties, alongside issues in prosocial behavior and impulsivity.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"324-331"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828731","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":"Coffin-Lowry Syndrome: A Case of Clinical Convergence for Psychology, Neuropsychology, Psychiatry, Genetics, and Neurology.","authors":"Ji-Sun Kim, Shawen Ilaria, Jasdeep Hundal, Vikram Bhise","doi":"10.1177/08830738241308605","DOIUrl":"10.1177/08830738241308605","url":null,"abstract":"<p><p>We present the case of a 15-year-old girl with new-onset psychosis and abnormal white matter activity on neuroimaging, engaging multidisciplinary care between genetics, neurology, psychiatry, and neuropsychology. She functioned well in mainstream education despite below average intellectual functioning. Physical examination findings enabled the diagnosis, and patient improved with joint psychological and behavioral outpatient services.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"374-378"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006197","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":"Cytokine Profiles Associated With Clinical Outcomes in Pediatric Patients With Meningitis: A Systematic Review and Meta-Analysis.","authors":"Daniela Caldas Teixeira, Ana Luisa Lodi Jimenez, Tales Godinho França, Kelvin Oliveira Rocha, Aline Almeida Bentes, Ana Cristina Simões E Silva, Lilian Martins Oliveira Diniz, Roberta Maia de Castro Romanelli","doi":"10.1177/08830738241304862","DOIUrl":"10.1177/08830738241304862","url":null,"abstract":"<p><p>This review evaluated the correlation between inflammatory response and clinical outcomes in pediatric patients with meningitis. PubMed, Scopus, and Web of Science were searched for relevant studies published until March 2024. A total of 139 articles were identified; 7 studies were eligible, and 3 provided data for the meta-analysis. All included articles comprised one of the following cohorts: children with bacterial meningitis, those with aseptic meningitis, or febrile children without evidence of central nervous system infection. The following cytokines and chemocytokines were assessed: interleukin IL-1β, IL-6, IL-17, tumor necrosis factor-alpha, and transforming growth factor-beta 1. Studies on children with bacterial meningitis confirmed by culture found that acute complications and neurologic sequelae were associated with higher concentrations of IL-1β, IL-6, and IL-17. Although this review could not definitively correlate individual inflammatory responses with the prognosis of children with central nervous system infections, IL-6 from cerebrospinal fluid may potentially predict the prognosis of children with bacterial meningitis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"383-390"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949577","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":"When the Expected Scenario Did Not Occur: A Novel <i>NDUFA12</i> Mutation Resembling Neuromyelitis Optica Spectrum Disorder.","authors":"Ahmet Koçak, Emek Uyur Yalçin, Nilüfer Eldeş Hacifazlioğlu, İbrahim Taş, Rahşan Göçmen, Bahadır Konuşkan","doi":"10.1177/08830738241313081","DOIUrl":"10.1177/08830738241313081","url":null,"abstract":"<p><p>Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. <i>NDUFA12</i>, located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the <i>NDUFA</i> mutations are associated with Leigh syndrome and complex I defects. Complex I deficiency typically manifests as bilateral brainstem lesions and presents with dystonia, hypotonia, and optic nerve damage. This article discusses a patient with an <i>NDUFA12</i> mutation resembling neuromyelitis optica spectrum disorder clinically and radiologically, highlighting the importance of considering <i>NDUFA12</i> mutations in dystonia and optic neuritis diagnoses, particularly in neuromyelitis optica spectrum disorder cases that do not respond to standard treatments. Further research on <i>NDUFA12</i> variants is needed for a better understanding of their phenotypic spectrum and to enhance diagnostic accuracy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"379-382"},"PeriodicalIF":2.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143006215","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}