Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.03.009
Ahmed El Damaty , Michael Elsässer , Ulrich Pfeifer , Urania Kotzaeridou , Christian Gille , Julia Spratte , Oliver Zivanovic , Christoph Sohn , Sandro M. Krieg , Heidrun Bächli , Andreas Unterberg
Introduction
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.
Patients and methods
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).
Results
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.
Conclusion
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.
{"title":"The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany","authors":"Ahmed El Damaty , Michael Elsässer , Ulrich Pfeifer , Urania Kotzaeridou , Christian Gille , Julia Spratte , Oliver Zivanovic , Christoph Sohn , Sandro M. Krieg , Heidrun Bächli , 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}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.03.008
Carmen Meza Fuentealba , Cristobal Arrieta , Catalina González , Nicolás Aranda Ortega , Luis Salinas , Rocío Cortés Zepeda , María de los Ángeles Beytía Reyes , Raúl G. Escobar , Sergio Uribe , Daniela Avila-Smirnow
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 < 0.0001). Additionally, median FSF was significantly higher in DMD patients (47.07 %) compared to controls (5.31 %, p < 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, p = 0.300) and DMD patients (ρ = −0.5893, p = 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.
杜氏肌营养不良症（DMD）是儿童中最常见的肌营养不良症。咀嚼功能受损和吞咽障碍可能导致误吸和胃造口术，这与咀嚼肌肉中的脂肪浸润有关，这在以前的肌肉超声中已经观察到。本研究旨在量化非活动DMD患者咀嚼肌的肌肉磁共振成像（MRI）中的肌肉体积和脂肪含量，并评估它们与最大咬力（MBF）的相关性，这在以前没有被描述过。纳入15例DMD患者和16例对照。用口腔测力仪测量MBF，用Dixon技术MRI量化总肌肉体积（TMV）和脂肪信号分数（FSF）。4例DMD患者出现咀嚼或吞咽困难。DMD患者的中位MBF （141.8 N）显著低于健康对照组(481.6 N, p <；0.0001)。此外，DMD患者的FSF中位数（47.07%）显著高于对照组(5.31%,p <；0.0001)。DMD患者TMV与MBF呈显著负相关（ρ = - 0.70, p = 0.0048）。健康对照组（ρ = - 0.5487, p = 0.300）和DMD患者（ρ = - 0.5893, p = 0.0224） MBF与归一化FSF呈显著负相关。DMD患者年龄与FSF呈非显著正相关（ρ = 0.38, p = 0.17）。Dixon MRI量化的MBF、TMV和FSF是评估DMD患者咀嚼功能的敏感指标，可作为临床随访的生物标志物。需要对老年患者进行研究，以评估MBF、TMV和FSF对患者营养状况的预测作用，以及是否需要进行胃造口术等治疗干预。
{"title":"Magnetic resonance imaging of masticatory muscles in patients with duchenne muscular dystrophy","authors":"Carmen Meza Fuentealba , Cristobal Arrieta , Catalina González , Nicolás Aranda Ortega , Luis Salinas , Rocío Cortés Zepeda , María de los Ángeles Beytía Reyes , Raúl G. Escobar , Sergio Uribe , 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 < 0.0001). Additionally, median FSF was significantly higher in DMD patients (47.07 %) compared to controls (5.31 %, p < 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}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.02.008
Barbara Plecko
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.
{"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}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.03.006
Susan Harvey , Nicholas M. Allen , Susan Byrne , Bryan Lynch , Niamh McSweeney , Siobhan Neville , Olivia O'Mahony , Mary O'Regan , Declan O'Rourke , Elaine Reade , David Webb , Mary D. King , Kathleen M. Gorman
Background
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.
Objectives
To determine the prevalence and clinical characteristics of PxMD in the pediatric population in the Republic of Ireland.
Methods
Cross-sectional cohort study across pediatric neurology services in the Republic of Ireland incorporating retrospective chart, telephone and clinical reviews.
Results
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).
Discussion
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.
背景：阵发性运动障碍（PxMD）以发作性不自主运动为特征，包括阵发性运动障碍（PD）和阵发性共济失调（EA）。尽管自1892年以来医学文献中就有报道，但儿童的确切患病率尚不清楚。目的了解爱尔兰儿童人群中PxMD的患病率和临床特征。方法对爱尔兰共和国儿童神经病学服务进行横断面队列研究，包括回顾性图表、电话和临床回顾。结果79例符合入选标准（PD = 37, EA = 38，儿童期交替性偏瘫= 4），所有18岁以下人群PxMD的点患病率为6.5 /10万（PD 3/10万，EA 3.1/10万，儿童期交替性偏瘫0.3/10万）。研究小组对64例患者进行临床回顾，其中PD = 33, EA = 31。38%（24/64）的患者发现了病因。单基因检测的调查率最高（38%,9/24），其次是基因面板（25%,11/44）。观察到不同的进化模式。在PD中，55%（18/33）得到缓解，30%（10/33）得到改善。这是由于61%（20/33）的药物治疗，6%（2/33）的触发避免和18%（6/33）的自发缓解。在EA中，45%（14/31）缓解，42%（13/31）改善，48%（17/33）自发缓解或改善。本研究通过首次确定小儿人群中的PxMD患病率，增加了PxMD知识库。这一流行率高于以前对成年人口的估计。三分之一的病例确定了病因。很大一部分患者可以通过药物治疗、避免诱发因素或随着时间的推移自行缓解来改善症状。
{"title":"Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort","authors":"Susan Harvey , Nicholas M. Allen , Susan Byrne , Bryan Lynch , Niamh McSweeney , Siobhan Neville , Olivia O'Mahony , Mary O'Regan , Declan O'Rourke , Elaine Reade , David Webb , Mary D. King , 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}
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.
Material and methods
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.
Results
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.
Discussion
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.
{"title":"Development in children with neurofibromatosis type 1 in early childhood","authors":"Franziska Krampe-Heni , Tamara Fuschlberger , Ute Wahlländer , Friedrich Voigt , Volker Mall , 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}
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.
{"title":"Pediatric-onset multiple sclerosis in Greece: A single-center study of the risk factors and a review of the literature","authors":"Evangelia Bechlivani , Efterpi Pavlidou , Konstantinos Notas , Martha Spilioti , Panagiota Karananou , Evangelos Pavlou , Anastasios Orologas , Dimitrios Zafeiriou , 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}
Pub Date : 2025-03-01DOI: 10.1016/j.ejpn.2025.02.011
Adrián García Ron , Eva Arias Vivas , Guillermo Fernando Ruiz Ocaña de las Cuevas , Elsa Santana Carera , Rafael Sánchez-del Hoyo , Marta Bote Gascón
Introduction
Headaches are becoming increasingly common in children and adolescents, leading to a rise in emergency department visits and hospitalizations. This study explores alternative therapeutic options, focusing on the anesthetic blockade of the greater occipital nerve (GON) for paediatric migraines.
Materials and methods
A prospective study assessing the utility of the anesthetic blockade in the GON zone with 0.5 % Bupivacaine in adolescents with refractory migraines. Inclusion criteria involve adolescents aged 12 to 17 with a diagnosis of migraine status. The study outlines the infiltration technique, efficacy assessment, and sustained utility evaluation, aiming to determine the safety, effectiveness, and patient satisfaction associated with the procedure.
Results
Out of 24 patients with migraine status, 92 % were females, with an average age of 14 years. Two-thirds reported incapacitating pain, and associated symptoms included nausea, vomiting, dizziness, syncope, phonophobia, and photophobia. The anesthetic blockade resulted in statistically significant total or partial improvement in the majority of patients, with sustained effectiveness observed at the 7-day follow-up. High satisfaction with the treatment was reported, and no adverse effects were documented.
Conclusion
The anesthetic blockade in the GON zone emerges as a safe and effective strategy for the treatment of paediatric migraines in the emergency department. High patient satisfaction and sustained effectiveness support its consideration, emphasizing the need for consensus and clinical trials to standardize procedures and indications across diverse populations.
{"title":"Utility of greater occipital nerve anesthetic blockade in the treatment of status migrainosus in the pediatric emergency department","authors":"Adrián García Ron , Eva Arias Vivas , Guillermo Fernando Ruiz Ocaña de las Cuevas , Elsa Santana Carera , Rafael Sánchez-del Hoyo , Marta Bote Gascón","doi":"10.1016/j.ejpn.2025.02.011","DOIUrl":"10.1016/j.ejpn.2025.02.011","url":null,"abstract":"<div><h3>Introduction</h3><div>Headaches are becoming increasingly common in children and adolescents, leading to a rise in emergency department visits and hospitalizations. This study explores alternative therapeutic options, focusing on the anesthetic blockade of the greater occipital nerve (GON) for paediatric migraines.</div></div><div><h3>Materials and methods</h3><div>A prospective study assessing the utility of the anesthetic blockade in the GON zone with 0.5 % Bupivacaine in adolescents with refractory migraines. Inclusion criteria involve adolescents aged 12 to 17 with a diagnosis of migraine status. The study outlines the infiltration technique, efficacy assessment, and sustained utility evaluation, aiming to determine the safety, effectiveness, and patient satisfaction associated with the procedure.</div></div><div><h3>Results</h3><div>Out of 24 patients with migraine status, 92 % were females, with an average age of 14 years. Two-thirds reported incapacitating pain, and associated symptoms included nausea, vomiting, dizziness, syncope, phonophobia, and photophobia. The anesthetic blockade resulted in statistically significant total or partial improvement in the majority of patients, with sustained effectiveness observed at the 7-day follow-up. High satisfaction with the treatment was reported, and no adverse effects were documented.</div></div><div><h3>Conclusion</h3><div>The anesthetic blockade in the GON zone emerges as a safe and effective strategy for the treatment of paediatric migraines in the emergency department. High patient satisfaction and sustained effectiveness support its consideration, emphasizing the need for consensus and clinical trials to standardize procedures and indications across diverse populations.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 65-69"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682345","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}
Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Patients often present with movement disorders (MD). This study aims to delineate the motor phenotype in a cohort of patients with DEE.
Methods
Retrospective review of 82 patients with DEE. MD type and distribution were documented and when available, video recordings were reviewed.
Results
Patients were classified into five etiological groups: 30.5 % had a likely genetic diagnosis, 29.3 % a confirmed genetic diagnosis, 18.3 % an inborn error of metabolism (IEM), 14.6 % an acquired brain lesion, and 7.3 % a brain dysplasia. Hyperkinetic MDs were present in 85.4 % of patients, including dystonia (48.8 %), stereotypies (22.0 %), chorea (20.7 %), hyperekplexia (15.9 %), tremor (14.6 %), and myoclonus (6.1 %). Parkinsonism was observed in 11 % of patients, ataxia in 8.5 % and multiple MDs in 50 %. Paroxysmal episodes of MD exacerbation occurred in 6 patients, and transient MD in 8. Dystonia was most frequent in patients with acquired brain lesions (p = 0.003). Parkinsonism was more frequent in patients with brain dysplasias and IEM (p = 0.043).
Conclusions
This study confirms the high frequency of hyperkinetic and combined MD in DEE, and identifies characteristic MDs in conditions such SCN8A, FOXG1 and ARX related DEE, as well as ataxia and tremor in STXBP1, SCN1A, MTRFR, KCTD7 and 15q111-13 deletion. Novel observations, include the occurrence of paroxysmal dyskinetic exacerbations in FOXG1, axial stereotypies in KCNQ2, hyperekplexia in cortical dysplasia and Parkinsonism in ECHS1 with DEE.
{"title":"Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy","authors":"Elissavet Kollia , Eleftheria Kokkinou , Chrysa Outsika , Georgia Koltsida , Vasiliki Zouvelou , Adamantios Vontzalidis , Zoi Dalivigka , Danai Veltra , Christalena Sofocleous , Nikolaos M. Marinakis , Faidon-Nikolaos Tilemis , Christos Yapijakis , Katherine K. Anagnostopoulou , Yannis L. Loukas , Maria Spanou , Argirios Dinopoulos , Eirini Nikaina , Anna-Venetia Skiathitou , Tania Siahanidou , Elissavet Georgiadou , Roser Pons","doi":"10.1016/j.ejpn.2025.03.001","DOIUrl":"10.1016/j.ejpn.2025.03.001","url":null,"abstract":"<div><h3>Background</h3><div>Developmental and epileptic encephalopathy (DEE) includes diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Patients often present with movement disorders (MD). This study aims to delineate the motor phenotype in a cohort of patients with DEE.</div></div><div><h3>Methods</h3><div>Retrospective review of 82 patients with DEE. MD type and distribution were documented and when available, video recordings were reviewed.</div></div><div><h3>Results</h3><div>Patients were classified into five etiological groups: 30.5 % had a likely genetic diagnosis, 29.3 % a confirmed genetic diagnosis, 18.3 % an inborn error of metabolism (IEM), 14.6 % an acquired brain lesion, and 7.3 % a brain dysplasia. Hyperkinetic MDs were present in 85.4 % of patients, including dystonia (48.8 %), stereotypies (22.0 %), chorea (20.7 %), hyperekplexia (15.9 %), tremor (14.6 %), and myoclonus (6.1 %). Parkinsonism was observed in 11 % of patients, ataxia in 8.5 % and multiple MDs in 50 %. Paroxysmal episodes of MD exacerbation occurred in 6 patients, and transient MD in 8. Dystonia was most frequent in patients with acquired brain lesions (p = 0.003). Parkinsonism was more frequent in patients with brain dysplasias and IEM (p = 0.043).</div></div><div><h3>Conclusions</h3><div>This study confirms the high frequency of hyperkinetic and combined MD in DEE, and identifies characteristic MDs in conditions such <em>SCN8A, FOXG1</em> and <em>ARX</em> related DEE, as well as ataxia and tremor in <em>STXBP1, SCN1A, MTRFR, KCTD7</em> and 15q111-13 deletion. Novel observations, include the occurrence of paroxysmal dyskinetic exacerbations in <em>FOXG1</em>, axial stereotypies in <em>KCNQ2</em>, hyperekplexia in cortical dysplasia and Parkinsonism in <em>ECHS1</em> with <em>DEE.</em></div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143580009","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}
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