European Journal of Paediatric Neurology最新文献

{"title":"Bilateral Greater Occipital Nerve injections could be useful in migraine status presenting to paediatric emergency departments","authors":"William Whitehouse","doi":"10.1016/j.ejpn.2025.04.006","DOIUrl":"10.1016/j.ejpn.2025.04.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology of childhood neuromuscular diseases in two hospital districts in Finland","authors":"M. Muuronen , H. Sätilä , P. Nokelainen , H. Huhtala , D. Caminiti , K. Eriksson , J. Palmio","doi":"10.1016/j.ejpn.2025.03.012","DOIUrl":"10.1016/j.ejpn.2025.03.012","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 97-102"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany","authors":"Ahmed El Damaty ,&nbsp;Michael Elsässer ,&nbsp;Ulrich Pfeifer ,&nbsp;Urania Kotzaeridou ,&nbsp;Christian Gille ,&nbsp;Julia Spratte ,&nbsp;Oliver Zivanovic ,&nbsp;Christoph Sohn ,&nbsp;Sandro M. Krieg ,&nbsp;Heidrun Bächli ,&nbsp;Andreas Unterberg","doi":"10.1016/j.ejpn.2025.03.009","DOIUrl":"10.1016/j.ejpn.2025.03.009","url":null,"abstract":"<div><h3>Introduction</h3><div>Fetal surgery for spina bifida aperta has achieved great advancement in last decade offering three possible methods for surgical repair. Open fetal microsurgical repair still remains the gold standard considering long-term results available. Since 2016, we established a program offering this modality of treatment in Germany.</div></div><div><h3>Patients and methods</h3><div>All patients who underwent interdisciplinary prenatal evaluation following a standardized protocol between June 2016–June 2024. Sacral lesions were excluded. The surgical technique and protocol used were similar to that described in Management Of Myelomeningocele Study (MOMS).</div></div><div><h3>Results</h3><div>Sixteen patients underwent surgery for spina bifida aperta without fetal nor maternal deaths. Microsurgical fetal repair was performed between 24th and 25th week of gestation age (GA) (Mean: 24 + 5 weeks GA). Lesion levels were mainly lumbosacral (n = 15) and one thoracolumbar (n = 1). Repair was successful in all 16 cases and with reversible hindbrain herniation at time of birth in 13/16 patients (81.3 %). Average time of delivery was 33 + 5 weeks GA, with 8 preterm deliveries occurring before 37 weeks GA; average birth weight was 2193 g. Maternal complications included 2 patients with uterine scar thinning. Hydrocephalus management was needed in 5/16 patiens (31.25 %) via ventriculo-peritoneal shunting.</div></div><div><h3>Conclusion</h3><div>Open fetal repair of spina bifida aperta in selected fetuses is safe and offers the unborn child a better quality of life but does not cure the disease and is not without risks or complications. Collaboration within the pediatric community is recommended to compile data in a common registry to develop standardized treatment and follow-up protocols.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 79-86"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143705558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transcranial magnetic stimulation in children with fetal alcohol spectrum disorder: A randomised, crossover pilot-trial","authors":"Jasmin Hubert ,&nbsp;Vivien Schmidt ,&nbsp;Esther Wittmann ,&nbsp;Anja Melder ,&nbsp;Anna Lomidze ,&nbsp;Nancy Smit ,&nbsp;Lucia Bulubas ,&nbsp;Mattia Campana ,&nbsp;Ulrike Vogelmann ,&nbsp;Beate Dornheim ,&nbsp;Frank Padberg ,&nbsp;Florian Heinen ,&nbsp;Mirjam N. Landgraf","doi":"10.1016/j.ejpn.2025.03.013","DOIUrl":"10.1016/j.ejpn.2025.03.013","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 111-120"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tumefactive demyelinating lesions in children","authors":"Ayberk Selek ,&nbsp;Rahsan Göcmen ,&nbsp;Ceren Günbey ,&nbsp;Bahadır Konuşkan ,&nbsp;Ibrahim Oncel ,&nbsp;Banu Anlar","doi":"10.1016/j.ejpn.2025.03.005","DOIUrl":"10.1016/j.ejpn.2025.03.005","url":null,"abstract":"<div><div>Tumefactive lesions (TDL) are larger than 2 cm in diameter on T2-weighted brain MRI. They are distinguished from other types of demyelinating lesions by their size and degree of perilesional edema and/or rim enhancement, which can make diagnosis challenging.</div></div><div><h3>Aim</h3><div>To study the clinical and radiological features, follow-up and final diagnosis of patients presenting with TDL.</div></div><div><h3>Method</h3><div>Medical records of children seen at the Pediatric neurology and radiology department between 1992 and 2017 were reviewed. 15 patients younger than 18 years of age who had at least one TDL on their first magnetic resonance imaging (MRI) were included. Clinical and radiological features and evolution of imaging findings were studied.</div></div><div><h3>Results</h3><div>First, all patients were admitted acutely with a polysymptomatic presentations (86,6 %) mainly affecting the motor system (92,8 %). The largest diagnostic group was MS (n = 10, 66,6 %) with 9 out of 10 individual's diagnosed during follow up. At least one new clinical or radiological relapse was observed in 12 patients with a mean occurrence of 9 and 14 months respectively. All cases who developed a radiological relapse and most (n: 9, 75 %) of those who experienced a clinical relapse were diagnosed with MS and all had new lesions at the time of diagnosis. All children with MS had positive OCBs. X children were diagnosed with xxxxx Most TDLs (21/24, 87,5 %) were localized in the supratentorial area. TDL + other demyelinating lesions were observed in most 12/15 (80 %) patients and the size of TDL was between 2 and 4 cm (20/24, 83.3 %). All patients with MS, whether they had a single TDL or multiple TDLs, had accompanying small demyelinating lesions. On follow-up all TDLs became smaller (14/15, 93,3 %) or resolved (n = 1).</div></div><div><h3>Conclusion</h3><div>The non-infiltratind pattern, presence of multiple small demyelinating lesions and CSF oligoclonal band positivity may suggest MS, which is one of the most common causes. However, for a definitive diagnosis, patients should continue to be monitored with radiological imaging even in the absence of clinical relapses.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 33-37"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Magnetic resonance imaging of masticatory muscles in patients with duchenne muscular dystrophy","authors":"Carmen Meza Fuentealba ,&nbsp;Cristobal Arrieta ,&nbsp;Catalina González ,&nbsp;Nicolás Aranda Ortega ,&nbsp;Luis Salinas ,&nbsp;Rocío Cortés Zepeda ,&nbsp;María de los Ángeles Beytía Reyes ,&nbsp;Raúl G. Escobar ,&nbsp;Sergio Uribe ,&nbsp;Daniela Avila-Smirnow","doi":"10.1016/j.ejpn.2025.03.008","DOIUrl":"10.1016/j.ejpn.2025.03.008","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children. Impairment of masticatory function and swallowing disorders, potentially leading to aspiration and gastrostomy, are linked to fatty infiltration in the masticatory muscles, as previously observed in muscle ultrasound. This study aims to quantify muscle volume and fat fraction in muscle magnetic resonance imaging (MRI) in the masticatory muscles in non-ambulant DMD patients compared to healthy controls and evaluate their correlation with maximum bite force (MBF), which has not been previously described. Fifteen patients with DMD and 16 controls were included. MBF was measured with an oral dynamometer and total muscle volume (TMV) and fat signal fraction (FSF) were quantified using MRI with the Dixon technique. Four DMD patients presented with masticatory or swallowing difficulties. DMD patients had a significantly lower median MBF (141.8 N) compared with healthy controls (481.6 N, p &lt; 0.0001). Additionally, median FSF was significantly higher in DMD patients (47.07 %) compared to controls (5.31 %, p &lt; 0.0001). A strong negative correlation between TMV and MBF was observed in DMD patients (ρ = −0.70, p = 0.0048). A significant negative correlation between MBF and normalized FSF was observed in healthy controls (ρ = −0.5487, <em>p</em> = 0.300) and DMD patients (ρ = −0.5893, <em>p</em> = 0.0224). A non-significant positive correlation between age and FSF in DMD was detected (ρ = 0.38, p = 0.17). MBF, TMV and FSF quantified with the Dixon MRI are sensitive measures to evaluate masticatory function in DMD patients and may serve as biomarkers for clinical follow up. Studies in older patients are needed to evaluate the predictive role of MBF, TMV and FSF in the nutritional status of patients and the need for therapeutic interventions such as gastrostomy.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 47-55"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143644193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inherited disorders of vitamin metabolism","authors":"Barbara Plecko","doi":"10.1016/j.ejpn.2025.02.008","DOIUrl":"10.1016/j.ejpn.2025.02.008","url":null,"abstract":"<div><div>Vitamins are essential cofactors of various enzyme reactions in amino acid, neurotransmitter, nucleotide and energy metabolism. Over the past decade a number of inborn errors of metabolism have been identified, that affect different steps in vitamin absorption, transport, activation or recycling and repair of active vitamin cofactors. According to the respective cofactor function this may result in acute or chronic multisystem disease or in disorders that selectively affect the nervous system. Most of these disorders are amenable to specific treatment with excellent results, but diagnostic delay can lead to rapid, irreversible damage or even death. Therefore, especially in case of acute and severe neurologic presentations compatible with one of the here discused disorders, a vitamin trial should be considered while awaiting results of biochemical and genetic testing. Diagnosis of these disorders is especially rewarding, as treatment is often per oral, available worldwide and comparably cheap. This article will review current knowledge of the clinical presentation, biomarkers and specific treatment of inborn errors of vitamin metabolism and illustrates why child neurologists should have vitamins in their pockets.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 18-32"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143629153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort","authors":"Susan Harvey ,&nbsp;Nicholas M. Allen ,&nbsp;Susan Byrne ,&nbsp;Bryan Lynch ,&nbsp;Niamh McSweeney ,&nbsp;Siobhan Neville ,&nbsp;Olivia O'Mahony ,&nbsp;Mary O'Regan ,&nbsp;Declan O'Rourke ,&nbsp;Elaine Reade ,&nbsp;David Webb ,&nbsp;Mary D. King ,&nbsp;Kathleen M. Gorman","doi":"10.1016/j.ejpn.2025.03.006","DOIUrl":"10.1016/j.ejpn.2025.03.006","url":null,"abstract":"<div><h3>Background</h3><div>Paroxysmal movement disorders (PxMD) are characterized by episodic involuntary movements and include paroxysmal dyskinesias (PD) and episodic ataxias (EA). Although reported in the medical literature since 1892, the exact prevalence in children is unknown.</div></div><div><h3>Objectives</h3><div>To determine the prevalence and clinical characteristics of PxMD in the pediatric population in the Republic of Ireland.</div></div><div><h3>Methods</h3><div>Cross-sectional cohort study across pediatric neurology services in the Republic of Ireland incorporating retrospective chart, telephone and clinical reviews.</div></div><div><h3>Results</h3><div>Seventy-nine cases met the inclusion criteria (PD = 37, EA = 38, Alternating Hemiplegia of Childhood = 4). Point prevalence for all PxMD was 6.5 cases per 100,000 persons aged less than 18 years (PD 3/100,000, EA 3.1/100,000, Alternating Hemiplegia of Childhood 0.3/100,000). Sixty-four cases were clinically reviewed by the research team (PD = 33, EA = 31). A cause was identified in 38 % (24/64). The highest investigation yield was from single-gene testing (38 %, 9/24) followed by gene panels (25 %, 11/44). Variable evolution patterns were seen. In PD, 55 % (18/33) resolved and 30 % (10/33) improved. This was due to medication in 61 % (20/33), trigger avoidance in 6 % (2/33) and spontaneous remission in 18 % (6/33). In EA, 45 % (14/31) resolved and 42 % (13/31) improved, with spontaneous remission or improvement in 48 % (17/33).</div></div><div><h3>Discussion</h3><div>This study adds to the PxMD knowledge base by determining PxMD prevalence in a pediatric population for the first time. This prevalence is higher than previous adult population estimates. An aetiology was identified in one-third. A large proportion can expect symptom improvement either with medications, trigger avoidance or spontaneous remission over time.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 70-78"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development in children with neurofibromatosis type 1 in early childhood","authors":"Franziska Krampe-Heni ,&nbsp;Tamara Fuschlberger ,&nbsp;Ute Wahlländer ,&nbsp;Friedrich Voigt ,&nbsp;Volker Mall ,&nbsp;Verena Kraus","doi":"10.1016/j.ejpn.2025.02.010","DOIUrl":"10.1016/j.ejpn.2025.02.010","url":null,"abstract":"<div><h3>Introduction</h3><div>The development of children with NF1 has so far been primarily studied in school-age children with various subtests showing heterogeneous profiles. The aim of this study is to characterise the development of infants with NF1 across all areas of early childhood development.</div></div><div><h3>Material and methods</h3><div>32 infants with NF1, aged 12–47 months, participated in this cross-sectional cohort study. Development was assessed with the MFED 1–4 comprising 7 test categories. Items measuring visual abilities (colour and visuospatial items) from all subcategories were selected and compared to the normal population.</div></div><div><h3>Results</h3><div>Infants with NF1 showed a global developmental delay, more pronounced in application of memorised knowledge. A particular deficit was found in items requiring spatial vision.</div></div><div><h3>Discussion</h3><div>The present study is the first to examine the global development of children with NF1 under 48 months. Consistent with animal data, we found significant deficits in visuospatial abilities, which may significantly contribute to the perceived global developmental delay. These findings underline the need for early and specific developmental therapy in this patient group in order to train the development early in infancy and to achieve the best neurodevelopmental outcome.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 56-64"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric-onset multiple sclerosis in Greece: A single-center study of the risk factors and a review of the literature","authors":"Evangelia Bechlivani ,&nbsp;Efterpi Pavlidou ,&nbsp;Konstantinos Notas ,&nbsp;Martha Spilioti ,&nbsp;Panagiota Karananou ,&nbsp;Evangelos Pavlou ,&nbsp;Anastasios Orologas ,&nbsp;Dimitrios Zafeiriou ,&nbsp;Athanasios Evangeliou","doi":"10.1016/j.ejpn.2025.04.001","DOIUrl":"10.1016/j.ejpn.2025.04.001","url":null,"abstract":"<div><div>Pediatric-onset multiple sclerosis (POMS) accounts for up to 10 % of the affected population. However, it remains an unexplored field in Greece, as no national registry or disease's atlas are currently available. Because of that, we conducted a single-center study. We searched the registries of our hospital during the period January 2010–September 2023 and catalogued 23 children that were under 16 years old when they were first hospitalized in our department and diagnosed with POMS. We compared our data collected to the available literature regarding demographics and the risk factors, and our findings in general meet the acquired POMS knowledge. Most of our children have vitamin D deficiency, previous EBV infection, whilst some of them have personal or family history of autoimmunity. The mean age of first diagnosis is 12.3 years, similar to the global mean age of POMS. Despite the findings obtained, more studies are essential in this field.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 121-129"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}