European Journal of Paediatric Neurology最新文献

英文中文

Tumefactive demyelinating lesions: navigating the many faces of mimicry 肿瘤脱髓鞘病变：导航模仿的许多面

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.04.007

Thomas Rossor , Ming Lim

引用次数: 0

Neurodevelopmental outcomes at age 5 years among children born very preterm and surviving after persistent pulmonary hypertension of the newborn: EPIPAGE-2 cohort study EPIPAGE-2队列研究：非常早产和新生儿持续性肺动脉高压后存活的5岁儿童的神经发育结局

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.007

Sophie Breinig , Virginie Ehlinger , Jean-Christophe Rozé , Laurent Storme , Xavier Durrmeyer , Gilles Cambonie , Lionel Berthomieu , Valérie Benhammou , Geraldine Gascoin , Pierre-Yves Ancel , Catherine Arnaud

Objective

To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31⁺⁶ preterm children.

Study design

In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.

Results

Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH–children, P < 0.001. Significant differences at 5 years between the PH+ and PH– groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P < 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P < 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH– children.

Conclusion

In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.

目的在22-31 +6早产儿人群队列中，确定肺动脉高压（PH）是否与5岁时不良神经发育结局的高风险相关。在2011年出生的早产儿EPIPAGE-2法国前瞻性人群队列中，收集了5岁时PH患儿的神经发育结局。主要结果是一项综合测量，包括四个级别的神经发育障碍：严重、中度、轻度、无残疾，基于脑瘫、视觉、听觉或认知缺陷、行为困难和发育协调障碍。次要结果是自闭症谱系障碍和出勤率。对缺失数据进行多重输入。采用广义估计方程模型对发展指标进行比较。结果3007例符合条件的儿童中，1825例被分析，其中79例（4.3%）为PH+。在5岁时，36.9% （95% CI, 26.0-47.8）的PH +儿童有中度至重度整体神经发育障碍，而PH -儿童为17.9% (95% CI, 16.1-19.8), P <；0.001. 5年时，PH+组和PH -组在脑瘫（CP）（6%对2.3%,P = 0.003）、认知缺陷(31.7%对15.0%,P <；0.001)和发育协调障碍(27.1%对11.7%,P <；0.001)。在行为困难和自闭症谱系障碍方面没有显著差异。接受师范教育的PH +儿童占69.2%，PH -儿童占88.3%。结论：在这个以全国人口为基础的极早产儿和极早产儿队列中，5岁时中度至重度整体神经发育障碍与新生儿PH显著相关。

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引用次数: 0

Bilateral Greater Occipital Nerve injections could be useful in migraine status presenting to paediatric emergency departments 双侧枕大神经注射可用于儿科急诊科偏头痛患者

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.04.006

William Whitehouse

引用次数: 0

Tumefactive demyelinating lesions in children 儿童肿瘤性脱髓鞘病变

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.005

Ayberk Selek , Rahsan Göcmen , Ceren Günbey , Bahadır Konuşkan , Ibrahim Oncel , Banu Anlar

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.

Aim

To study the clinical and radiological features, follow-up and final diagnosis of patients presenting with TDL.

Method

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.

Results

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).

Conclusion

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.

在t2加权脑MRI上，肿瘤病灶（TDL）直径大于2cm。它们与其他类型的脱髓鞘病变的区别在于其大小和病灶周围水肿和/或边缘增强的程度，这可能使诊断具有挑战性。目的探讨TDL患者的临床、影像学特征、随访及最终诊断。方法回顾1992年至2017年儿科神经病学和放射科儿童的医疗记录。15例年龄小于18岁的患者首次磁共振成像（MRI）时至少有一个TDL。并对其临床、放射学特征及影像学表现进行了研究。结果首先，所有患者均为急性多症状患者（86,6%），主要影响运动系统（92,8%）。最大的诊断组为多发性硬化症（n = 10, 66,6 %）， 10例患者中有9例在随访期间确诊。12例患者中至少有一次新的临床或放射学复发，平均复发时间分别为9个月和14个月。所有放射学复发的病例和大多数（9.75%）临床复发的病例都被诊断为多发性硬化症，并且在诊断时都有新的病变。所有MS患儿ocb均呈阳性。大多数tdl（21/ 24,87,5 %）定位于幕上区。TDL +其他脱髓鞘病变占12/15 (80%)，TDL大小在2 ~ 4cm之间（20/24,83.3%）。所有MS患者，无论是单发TDL还是多发TDL，均伴有小的脱髓鞘病变。随访时，所有tdl变小（14/ 15,93,3 %）或消退（n = 1）。结论非浸润型、多发小脱髓鞘病变及CSF寡克隆带阳性可能提示多发性硬化症，这是多发性硬化症最常见的病因之一。然而，为了明确诊断，即使在没有临床复发的情况下，患者也应继续接受放射影像学监测。

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引用次数: 0

The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany 德国16例开放性显微手术治疗脊髓脊膜膨出的首例经验

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 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.

前言胎儿手术治疗先天性脊柱裂在过去十年中取得了很大的进步，提供了三种可能的手术修复方法。考虑到长期疗效，开放式胎儿显微手术修复仍然是金标准。自2016年以来，我们在德国建立了一个提供这种治疗方式的项目。患者和方法所有患者在2016年6月至2024年6月期间按照标准化方案进行了跨学科产前评估。排除骶骨病变。所使用的手术技术和方案与髓脊膜膨出研究（mom）中描述的相似。结果16例手术治疗的aperida患者无胎、母死亡。显微手术胎儿修复于24 ~ 25周胎龄（平均24 + 5周胎龄）。病变部位主要为腰骶部（15例）和胸腰椎（1例）。16例患者均成功修复，13/16例（81.3%）患者出生时出现可逆性后脑疝。平均分娩时间为33 + 5周，37周前有8例早产；平均出生体重为2193克。产妇并发症包括2例子宫瘢痕变薄。5/16（31.25%）患者需要脑室-腹膜分流术治疗脑积水。结论开放式胎儿修复术对部分胎儿是安全的，可提高胎儿的生活质量，但不能完全治愈该病，也存在一定的风险和并发症。建议在儿科社区内进行合作，将数据汇编到一个共同的登记处，以制定标准化的治疗和随访方案。

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引用次数: 0

Epidemiology of childhood neuromuscular diseases in two hospital districts in Finland 芬兰两家医院辖区内儿童神经肌肉疾病的流行情况

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.012

M. Muuronen , H. Sätilä , P. Nokelainen , H. Huhtala , D. Caminiti , K. Eriksson , J. Palmio

引用次数: 0

Transcranial magnetic stimulation in children with fetal alcohol spectrum disorder: A randomised, crossover pilot-trial 经颅磁刺激治疗胎儿酒精谱系障碍：一项随机交叉试验

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 10.1016/j.ejpn.2025.03.013

Jasmin Hubert , Vivien Schmidt , Esther Wittmann , Anja Melder , Anna Lomidze , Nancy Smit , Lucia Bulubas , Mattia Campana , Ulrike Vogelmann , Beate Dornheim , Frank Padberg , Florian Heinen , Mirjam N. Landgraf

引用次数: 0

Magnetic resonance imaging of masticatory muscles in patients with duchenne muscular dystrophy 杜氏肌营养不良患者咀嚼肌的磁共振成像

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 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。

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引用次数: 0

Inherited disorders of vitamin metabolism 遗传性维生素代谢紊乱

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 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.

维生素是氨基酸、神经递质、核苷酸和能量代谢中各种酶反应的必需辅助因子。在过去的十年中，已经发现了一些先天的代谢错误，这些错误影响了维生素吸收、运输、激活或再循环以及活性维生素辅助因子修复的不同步骤。根据各自的辅助因子功能，这可能导致急性或慢性多系统疾病或选择性影响神经系统的疾病。这些疾病中的大多数可以通过特定的治疗获得良好的效果，但诊断延误可能导致迅速的、不可逆转的损害甚至死亡。因此，特别是在急性和严重的神经系统表现与这里讨论的疾病之一相一致的情况下，在等待生化和基因检测结果的同时，应考虑维生素试验。这些疾病的诊断尤其有益，因为治疗通常是口服的，在全世界都可以获得，而且相对便宜。这篇文章将回顾目前关于维生素代谢先天缺陷的临床表现、生物标志物和特殊治疗的知识，并说明为什么儿童神经科医生应该随身携带维生素。

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引用次数: 0

Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort 儿童阵发性运动障碍-爱尔兰队列的临床流行病学研究

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-03-01 DOI: 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。

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