Neuropediatrics最新文献

{"title":"The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy.","authors":"Gizem Doğan, Gamze Sarıkaya Uzan, Yiğithan Güzin, Figen Baydan, Kayı Eliacık, Barıs Güven, Ali Rahmi Bakiler","doi":"10.1055/a-2505-8310","DOIUrl":"10.1055/a-2505-8310","url":null,"abstract":"<p><strong>Aim: </strong> Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases. The aim of this study was to examine the effect of genotype differences on cardiac involvement in patients diagnosed with DMD with genetic analysis.</p><p><strong>Methods: </strong> A retrospective analysis of DMD patients followed up in the Muscle Diseases Centre of Health Sciences University Izmir Tepecik Training and Research Hospital was done.</p><p><strong>Results: </strong> Evaluation was made of 120 male DMD patients with a mean age of 9.66 ± 5.10 years. According to the genetic analysis results, 76.7% deletions, 15.8% mutations, and 7.5% duplications were determined. Of the mutations determined, 65.8% were between exons 44 and 54, 17.5% between exons 1 and 18, and 9.2% between exons 19 and 43, 5.8% were non-sense mutations, and 1.7% were on exons >54. In the cases determined with cardiac involvement, the mean age of onset was 11.87 ± 3.11 years. When ejection fraction (EF) <56% or fractional shortening (FS) <28% was accepted as systolic dysfunction cardiac effect, 12.5% of the cases were determined with cardiac involvement. Of the cases determined with cardiac effects, 86.7% were aged >10 years. Electrocardiography was evaluated as normal in 54.5%, sinus tachycardia in 24.2%, short PR in 15.2%, and right and left ventricle hypertrophy in 8.1%. No statistically significant difference was determined in mutation types and location according to the age of cardiac involvement. The left ventricle (LV) posterior wall thickness value determined in the exon 44-54 group was higher than in DMD cases with other mutations. Although not statistically significant, an important result was that the LV posterior wall and IVSed values were evaluated to be high.</p><p><strong>Conclusion: </strong> The current study results and findings in literature have not found a clear relationship between genotypes and cardiac involvement in DMD cases.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"241-248"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979468","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":"Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.","authors":"Jernej Avsenik, Mirjana P Benedik, Mihael Rogač, Asthik Biswas, Sniya Sudhakar, Felice D'Arco, Ulrike Löbel, Kshitij Mankad","doi":"10.1055/a-2509-0348","DOIUrl":"10.1055/a-2509-0348","url":null,"abstract":"<p><p>We describe a set of monozygotic twins with Glutamate Ionotropic Receptor N-methyl-D-aspartate Type Subunit 2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the <i>GRIN2B</i> gene (c.2453T > C, p.Met818Thr). Twin A displayed extensive symmetric malformation of cortical development (MCD) resembling polymicrogyria, accompanied by shallow sulci, dilated lateral ventricles, and dysplastic appearances of the basal ganglia, corpus callosum, and hippocampi. In twin B, malformative features, such as reduced brain volume, MCD, shallow sulci, and dilated lateral ventricle, were confined to the left hemisphere. In combination with previously published data, our report highlights variable phenotypes associated with the p.(Met818Thr) pathogenic variant, specifically with a potential for asymmetric or even unilateral presentation. We discuss the potential interplay between genetic and environmental factors underlying this phenomenon within the context of monozygotic twins. In addition, we also highlight the importance of recognizing potential genetic underpinnings in the assessment of apparently unilateral brain malformations.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"269-273"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909904","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":"Olfactory Dysfunction in Children and Adolescents-A Diagnostic Pathway.","authors":"Janine Gellrich, Elisabeth C Lohrer, Thomas Hummel, Valentin A Schriever","doi":"10.1055/a-2509-8547","DOIUrl":"10.1055/a-2509-8547","url":null,"abstract":"<p><p>Olfactory disorders have so far played a subordinate role in pediatric care, although children can also be affected. Due to a lack of awareness, the diagnosis can often only be made after numerous visits to the doctor, although it can significantly impact the quality of life. Olfactory disorders in adults are usually acquired, while congenital causes dominate in children. To date, there are no specific recommendations for diagnosis in children. This article deals with the prevalence, causes, and diagnostic approaches of olfactory disorders in pediatrics. A structured diagnostic approach is fundamental, including a medical history and psychophysical olfactory tests, supplemented by specific examinations depending on the suspected diagnosis. Therapeutic approaches are limited, with a focus on counseling and olfactory training.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"215-220"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008834","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":"Management of Critically Ill Children with Acute Necrotizing Encephalitis during an H1N1 Outbreak in a Tertiary Pediatric Hospital: A Series of Three Cases and Literature Review.","authors":"Annalisa D'Eleuterio, Paolo Rufini, Manuela L'Erario, Gabriele Simonini, Carlotta Montagnani, Stefano Ermini, Silvia Ricci, Luca Bartolini, Zaccaria Ricci","doi":"10.1055/a-2442-5810","DOIUrl":"10.1055/a-2442-5810","url":null,"abstract":"<p><p>Acute necrotizing encephalopathy (ANE) is a severe neurological condition that is diagnosed clinically and upon specific radiological imaging. Medical treatment of this condition is uncertain, and timing is likely very important to minimize brain damage and systemic inflammation. The present case series describes three patients suffering from ANE secondary to influenza A/H1N1 infection during a recent outbreak, treated with increasingly aggressive anti-inflammatory approach, and with significantly different outcomes.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"259-264"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471180","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":"Bornavirus (BoDV-1) Encephalitis in Children: Update on Diagnosis and Treatment.","authors":"Victoria Lieftüchter, Yannik Vollmuth, Moritz Tacke, Florian Hoffmann, Marco Paolini, Tom Finck, Friederike Liesche-Starnecker, Ulrich von Both, Kirsten Pörtner, Dennis Tappe, Leonie Grosse","doi":"10.1055/a-2561-8303","DOIUrl":"10.1055/a-2561-8303","url":null,"abstract":"<p><p>Infectious encephalitis in children can be caused by several pathogens, very rarely this can be caused by bornaviruses (BoDV-1). Due to the recent discovery of the disease in humans and the small number of cases, especially pediatric infections, knowledge about the disease pathology as well as therapeutic options is limited. Therefore, this review shall help raise awareness of this rare and mostly fatal disease, promote an early diagnosis, and present current knowledge about possible treatment options.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"221-225"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032685","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":"Combined Gelastic and Dacrystic Seizures in a Child with Hypothalamic Hamartoma.","authors":"Lorenz Kronast, Sarah Schweikart, Marcus Jakob, Friederike Studt, Gerhard Kluger, Till Hartlieb","doi":"10.1055/a-2561-8410","DOIUrl":"10.1055/a-2561-8410","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"278-280"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664077","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":"Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain.","authors":"Annegret Quade, Annette Lischka, Simone Albani, Giulia Rossetti, Zahra-Nada Hageb, Roman Rolke, Ingo Kurth, Istvan Kristof Katona, Katja Eggermann, Barbara Namer, Angelika Lampert, Maike F Dohrn, Gabriel M Schacht, Joachim Weis, Martin Häusler","doi":"10.1055/a-2595-0572","DOIUrl":"10.1055/a-2595-0572","url":null,"abstract":"<p><p>Pathogenic variants in voltage-gated sodium channels (VGSCs) may cause disturbed sensory function, including small fiber neuropathy (SFN) in adults, but little is known about their role in children and adolescents.A total of 39 prospectively enrolled children (age 12.03 ± 4.61 years) with abnormal pain sensation underwent detailed diagnostics including quantitative sensory testing (QST, if >5 years old), quality of life assessment, and genetic studies for VGSC variants and further etiologies.QST results were consistent with Aẟ- und C-fiber damage, including increased cold, warmth, and mechanical detection thresholds, higher thermal sensory limen, and allodynia. Intraepidermal nerve fiber densities were low in 9/18 children. This resulted in a great impact on physical quality of life and pain scales but not on social life. Five children showed heterozygous variants of unknown significance (VUS) in genes encoding VGSC (<i>SCN9A</i>, <i>n</i> = 2; <i>SCN10A</i>, <i>n</i> = 3) with maternal or paternal inheritance in two and one patients, respectively. Three further patients showed likely disease-associated variants in the <i>HUWE1</i>, <i>TRIO</i>, and <i>PYGM</i> genes.Despite a high disease burden and small fiber damage indicated by QST and skin histology, only VUS in VGSC and additional monogenic causes of pain symptoms outside of VGSC genes were identified. Genetic studies in affected children should therefore be comprehensive, not restricted to VGSC variants and be supplemented by a detailed clinical workup. <i>In silico</i> modeling and future functional studies might help to identify VUS that play a role in altered pain perception.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"249-258"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036782","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":"EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female.","authors":"Rebecca E Basch, McKenna Tierney, Lila Worden, Sara Sanders, Elizabeth A Ng","doi":"10.1055/a-2532-4172","DOIUrl":"10.1055/a-2532-4172","url":null,"abstract":"<p><p>Acute motor and sensory axonal neuropathy (AMSAN) is a rare and severe form of acute axonal injury caused by immune damage to the axonal membrane. AMSAN is an axonal variant of GBS. GBS occurs from immune injury to the myelin sheath, axonal variants of GBS (AMSAN and AMAN) differ in that insult is to the axonal membrane. AMSAN is seldom seen, especially in pediatric and adolescent patients. Unlike acute motor axonal neuropathy (AMAN), which has been well-described in literature to be secondary to <i>Campylobacter jejuni</i> infection, there is no known etiology of AMSAN. Here, we present a case of an otherwise healthy 15-year-old female who presented with new-onset facial and bulbar weakness that rapidly progressed to functional paralysis requiring intubation. With no clear diagnosis and after failure in improvement with high-dose steroids, Intravenous Immunoglobulin (IVIG), and plasma exchange transfusion, diagnosis was finally made with electromyography (EMG) and nerve conduction study (NCS). In addition, extensive laboratory work was completed and was only notable for primary acute EBV infection. This case represents a new presenting symptom of AMSAN, a unique finding of concomitant primary EBV infection, the possibility of primary Epstein-Barr virus (EBV) infection as the triggering event in AMSAN and stresses the importance of EMG and NCS when evaluating patients with weakness.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"274-277"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188885","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":"Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series.","authors":"Luisa Fernanda López-Mora, Juan David Farfán-Albarracín, Pablo Vásquez-Hoyos","doi":"10.1055/a-2607-6261","DOIUrl":"10.1055/a-2607-6261","url":null,"abstract":"<p><p>Autoimmune diseases of the central nervous system in children present a significant diagnostic challenge due to their heterogeneous nature. The identification of anti-myelin oligodendrocyte glycoprotein (MOG) antibodies has contributed to our understanding and classification of these disorders.This study aims to characterize the clinical, paraclinical, and neuroimaging findings in pediatric patients diagnosed with acquired demyelinating syndromes (ADS) and autoimmune encephalitis (AE).Conducted as a descriptive case series, this study retrospectively analyzed medical records of children under 18 years diagnosed with ADS or AE from January 2017 to February 2022. We employed basic descriptive statistics to analyze patient demographics, clinical presentations, laboratory findings, and neuroimaging results.A total of 71 cases were evaluated, with 80% classified as ADS and 20% as AE. Within ADS, acute disseminated encephalomyelitis and optic neuritis were the most prevalent at 19%, followed by pediatric-onset multiple sclerosis at 17%, and transverse myelitis at 16%. AE cases were predominantly seropositive (93%), with a vast majority (92%) showing anti-NMDAR antibodies compared with 8% with anti-MOG antibodies. Since MOG antibody measurement became available at our institution in 2020, many new cases have been diagnosed as MOGAD (MOG antibody-associated disease), a new entity with different clinical manifestations.In children demyelinating disorders are more frequent than autoimmune encephalitis. New biomarkers, such as anti-MOG antibodies, have led to a better understanding of pediatric autoimmune CNS diseases. The study underscores the necessity of continuous reevaluation of diagnostic criteria and treatment protocols considering emerging biomarkers in neuroimmunology.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"234-240"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132662","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":"Autoimmune Encephalitis, Including Anti-MOG Antibody Related Encephalitis, is Rare in Children with Suspected Meningitis or Encephalitis.","authors":"Grace Gombolay","doi":"10.1055/a-2595-6259","DOIUrl":"https://doi.org/10.1055/a-2595-6259","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"56 4","pages":"213-214"},"PeriodicalIF":1.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591865","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}