Annals of the Child Neurology Society最新文献_第6页

Neuromyelitis optica spectrum disorder and autoimmune glial fibrillary acidic protein astrocytopathy overlap syndrome mimicking a pontine mass: The utility of brainstem biopsy 视神经脊髓炎频谱障碍和自身免疫胶质纤维酸性蛋白星形细胞病重叠综合征模拟脑桥肿块：脑干活检的应用

Annals of the Child Neurology Society

Pub Date : 2025-02-07 DOI: 10.1002/cns3.20103

Vivien X. Xie, Gilbert Vezina, John S. Myseros, Lakshmi Ramachandran Nair, Elizabeth M. Wells, Benjamin I. Siegel

Objective

Diffuse intrinsic pontine gliomas (DIPG) are high-grade tumors with a dismal prognosis and are classically diagnosed by radiologic features. DIPG is a critical differential consideration for a pediatric patient presenting with an infiltrative brainstem mass. However, inflammatory and infectious etiologies must also be considered, especially in individuals with atypical radiographic features. In a carefully selected clinical scenario, biopsy can be employed to quickly diagnose and direct treatment for patients with brainstem masses.

Results

This 10-year-old girl presented with acute onset of dysarthria, ataxia, left-sided weakness, hypertonicity, and dysmetria. Magnetic resonance imaging revealed an infiltrative pontine lesion with atypical features for that of DIPG or specific inflammatory disease. Due to rapid clinical deterioration, stereotactic brainstem biopsy was performed for diagnostic clarity and showed inflammation but no malignant cells. She was then treated for a presumed antibody-mediated autoimmune etiology with evaluation later revealing neuromyelitis optica spectrum disorder (NMOSD) and autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy overlap syndrome.

Interpretation

We present a novel example of pediatric NMOSD and autoimmune GFAP astrocytopathy overlap syndrome originally presenting as an infiltrative pontine mass. Our report highlights the safety and utility of brainstem biopsy for brainstem masses atypical for DIPG.

目的弥漫性内生性脑桥胶质瘤是一种预后较差的高级别肿瘤，其影像学诊断具有代表性。对于表现为浸润性脑干肿块的儿科患者，DIPG是一个关键的鉴别考虑因素。然而，炎症和感染的病因也必须考虑，特别是在个体不典型的放射学特征。在精心选择的临床情况下，活检可用于快速诊断和指导脑干肿块患者的治疗。结果这名10岁女孩表现为急性构音障碍、共济失调、左侧无力、高张力和韵律障碍。磁共振成像显示浸润性脑桥病变，不典型特征为DIPG或特异性炎性疾病。由于临床迅速恶化，为明确诊断进行了立体定向脑干活检，结果显示炎症但未见恶性细胞。随后，她接受了抗体介导的自身免疫性病因治疗，后来的评估显示视神经脊髓炎谱系障碍（NMOSD）和自身免疫性胶质纤维酸性蛋白（GFAP）星形细胞病重叠综合征。我们报告了一个儿科NMOSD和自身免疫性GFAP星形细胞病重叠综合征的新病例，最初表现为浸润性脑桥肿块。我们的报告强调了对DIPG非典型脑干肿块进行脑干活检的安全性和实用性。

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引用次数: 0

In children with attention-deficit/hyperactivity disorder, less task-related up-modulation of motor cortex during response inhibition 在有注意缺陷/多动障碍的儿童中，在反应抑制期间运动皮层的任务相关上调较少

Annals of the Child Neurology Society

Pub Date : 2025-01-15 DOI: 10.1002/cns3.20101

Donald L. Gilbert, Deana Crocetti, Paul S. Horn, Steve W. Wu, David A. Huddleston, Jacqueline M. Ehrman, Karlee Y. Migneault, Stewart H. Mostofsky

Objective

The aim of this study was to identify a quantitative, brain-based measure reflecting impaired response inhibition in children with attention-deficit/hyperactivity disorder (ADHD).

Methods

In this cross-sectional study, we used transcranial magnetic stimulation (TMS) to evoke potentials in hand muscle during both a simple reaction time and a response inhibition task in 8-to-12-year-old children, 41 with ADHD (42% girls, 76% white, mean age 10.3 years) and 38 typically developing controls (53% girls, 74% white, mean age 9.8 years). We used mixed-model linear regressions of evoked potential amplitudes to compare motor cortex excitability at (1) task-onset (“START”: 550 ms prior to action); (2) preparing-to-go (“GO”: 150 ms prior to action); and (3) selecting-to-stop (“STOP”: 150 ms after stop cue). We hypothesized that task-related up-modulation of motor cortex excitability (motor evoked potential amplitudes) would depend both on task (STOP > GO > START) and on diagnosis (controls > patients).

Results

Motor cortex up-modulation was significantly greater for STOP trials than during GO or START. Children with ADHD had both worse response inhibition performance (longer stop-signal reaction times) and significantly less task effect on motor cortex up-modulation. The largest diagnostic difference in motor cortex activation occurred during STOP trials. Reduced up-modulation during stopping was also associated with higher parent-rated symptom severity.

Interpretation

Our findings suggest that motor cortex up-modulation of excitability, assessed indirectly by TMS motor evoked potentials, reflects the cognitive load during response inhibition tasks and may be a quantitative, brain-based indicator of impaired response inhibition in children with ADHD.

目的本研究的目的是确定一种定量的、基于大脑的测量方法，以反映注意力缺陷/多动障碍（ADHD）儿童的反应抑制受损。在这项横断面研究中，我们使用经颅磁刺激（TMS）在简单的反应时间和反应抑制任务中激发手部肌肉的电位，在8- 12岁的儿童中，41名ADHD儿童（42%的女孩，76%的白人，平均年龄10.3岁）和38名正常发育的对照组（53%的女孩，74%的白人，平均年龄9.8岁）。我们使用诱发电位振幅的混合模型线性回归来比较(1)任务开始（“START”：行动前550 ms）时运动皮层的兴奋性；(2)行动准备（“GO”：行动前150毫秒）；(3)停止选择（“STOP”：停止提示后150ms）。我们假设，与任务相关的运动皮层兴奋性上调（运动诱发电位振幅）取决于任务（STOP > GO >； START）和诊断（对照组>；患者）。结果停止组的运动皮质上调明显大于继续组和开始组。ADHD患儿的反应抑制表现较差（停止信号反应时间较长），且运动皮层上调的任务效应明显减弱。运动皮层激活的最大诊断差异发生在STOP试验中。停药期间下调上调也与父母评价的较高症状严重程度相关。我们的研究结果表明，通过经颅磁刺激间接评估的运动皮层兴奋性上调反映了反应抑制任务中的认知负荷，可能是ADHD儿童反应抑制受损的定量、基于大脑的指标。

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引用次数: 0

Early neurodevelopmental follow-up results from the NEOLEV2 cohort NEOLEV2队列的早期神经发育随访结果

Annals of the Child Neurology Society

Pub Date : 2025-01-15 DOI: 10.1002/cns3.20096

Cynthia Sharpe, Gail E. Reiner, Peter W. Reed, Priscilla Joe, Francessa Wilson, Suzanne L. Davis, Lilly Lee, Sonya Wang, Jeff Gold, Richard H. Haas

Aim

The aim of this study was to evaluate predictors of neurodevelopmental outcome following hypoxic-ischemic encephalopathy (HIE) and neonatal seizures in the randomized controlled trial cohort from the NEOLEV2 study.

Method

Seizure burden, randomized levetiracetam versus phenobarbital antiseizure medication, and duration of breastfeeding were studied as predictors of neurodevelopmental outcome.

Results

Outcome could be assessed in 115 patients with HIE and/or seizures; 89 patients with HIE (50% of 178 patients with HIE in the original cohort), and 60 patients with seizures (63% of 96 patients with seizures in the original cohort), and including 34 patients who had both HIE and seizures. A strong association between seizure burden and outcome was shown. However, the association was not statistically significant after correction for known predictors of outcome: magnetic resonance imaging severity of injury score, Sarnat score, and hypothermia treatment. This study was underpowered to assess for effect of randomized antiseizure medication or duration of breastfeeding on neurodevelopmental outcome; however, no large trends were seen.

Interpretation

This study adds to the debate as to whether neonatal seizures have an independent detrimental effect on neurodevelopmental outcome. Larger studies with longer neurodevelopmental follow-up are needed to investigate these questions.

本研究的目的是在NEOLEV2研究的随机对照试验队列中评估缺氧缺血性脑病（HIE）和新生儿癫痫发作后神经发育结局的预测因素。方法研究癫痫发作负担、随机左乙拉西坦与苯巴比妥抗癫痫药物、母乳喂养时间作为神经发育结局的预测因素。结果对115例HIE和/或癫痫发作患者的预后进行了评估；89例HIE患者（原队列178例HIE患者中的50%）和60例癫痫发作患者（原队列96例癫痫发作患者中的63%），其中34例同时患有HIE和癫痫发作。癫痫发作负担与预后之间存在很强的相关性。然而，在校正了已知的预后预测因子：磁共振成像损伤严重程度评分、Sarnat评分和低温治疗后，这种关联没有统计学意义。该研究不足以评估随机抗癫痫药物或母乳喂养时间对神经发育结局的影响；然而，没有看到大的趋势。这项研究增加了关于新生儿癫痫发作是否对神经发育结果有独立有害影响的争论。需要更大规模的神经发育随访研究来调查这些问题。

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引用次数: 0

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus-myoclonus-ataxia syndrome 吡哆醛磷酸结合蛋白（PLPBP）缺乏模拟眼阵挛-肌阵挛-共济失调综合征

Annals of the Child Neurology Society

Pub Date : 2025-01-15 DOI: 10.1002/cns3.20098

Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

Introduction

Genetic and metabolic conditions can mimic diagnoses such as hypoxic-ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus-myoclonus-ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can be missed, and treatment delayed.

Methods

A 3-year-old girl with a history of neonatal seizures and previous nondiagnostic epilepsy gene panel presented with seizures, behavioral changes, and discrete episodes of myoclonus, tremors, and abnormal eye movements following a viral illness.

Objective and Interpretation

Initial evaluation was concerning for OMAS, though metabolic causes remained on the differential. Metabolic testing revealed elevated glycine and glutamine, suggestive of a possible inborn error of metabolism. Whole exome sequencing demonstrated compound heterozygous variants in the PLPBP gene associated with pyridoxine-dependent epilepsy (PDE), consistent with her clinical presentation and leading to her diagnosis of PLPBP deficiency.

Discussion

Clinicians should gauge the indications, advantages, and limitations of targeted sequencing panels versus whole exome sequencing. Continued evaluation is recommended in patients with a history of neonatal and infantile epilepsy, especially if they present with episodic crises related to viral illness even if prior genetic and metabolic investigations have been nondiagnostic. This report also highlights the clinical overlap between PLPBP deficiency and OMAS, and the differences in pathophysiology, treatment pathways, and implications.

遗传和代谢条件可以模拟诊断，如缺氧缺血性脑病，脑膜脑炎，癫痫，肌阵挛-共济失调综合征（OMAS）。如果没有高度的怀疑和适当的检测，可能会错过诊断，延误治疗。方法1例3岁女童，有新生儿癫痫发作史，既往有癫痫基因检测，表现为病毒性疾病后的癫痫发作、行为改变、肌阵挛、震颤和异常眼动。目的和解释最初的评估是关于OMAS的，尽管代谢原因仍然存在差异。代谢测试显示甘氨酸和谷氨酰胺升高，提示可能有先天性代谢错误。全外显子组测序显示PLPBP基因的复合杂合变异与吡哆醇依赖性癫痫（PDE）相关，与她的临床表现一致，并导致她的PLPBP缺乏症诊断。临床医生应该衡量靶向测序组与全外显子组测序的适应症、优点和局限性。建议对有新生儿和婴儿癫痫史的患者进行持续评估，特别是如果他们出现与病毒性疾病相关的发作性危象，即使先前的遗传和代谢调查没有诊断。本报告还强调了PLPBP缺乏和OMAS之间的临床重叠，以及病理生理学、治疗途径和影响的差异。

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引用次数: 0

Diencephalic Syndrome in Adolescents: A Case Series 青少年双脑综合征：病例系列

Annals of the Child Neurology Society

Pub Date : 2025-01-15 DOI: 10.1002/cns3.20099

Toritseju I. Kpenosen, Owen N. Chandler, Scott I. Otallah

Introduction

Two pediatric patients presented with unintentional weight loss despite normal caloric intake. Both patients later developed neurological symptoms, and a neoplastic lesion was detected in the hypothalamic-optic chiasmatic region. The location of the tumor and the significant weight loss aligned with diencephalic syndrome (DES), which typically occurs in infants and young children. However, both patients were in their teens and thus greatly deviated from the normal age range of this disorder.

Methods/Results

After chart review we analyzed the patients with a focus on the similarities in their clinical course and final diagnosis. Both patients were ultimately diagnosed with DES. Managing the patients' tumors allowed them to experience significant weight gain and return to daily life activities.

Discussion

Although the exact pathogenesis for DES is not fully understood, the symptoms are associated with hypothalamic dysfunction. DES has been accepted as a disorder of the hypothalamic hunger and satiety control mechanisms. With both patients having tumors in the hypothalamic-optic chiasmatic region, it is expected that the growing mass would compress the hypothalamus and disrupt normal hypothalamic function. Because of the hypothalamus' role in hunger and satiety control mechanisms, it is logical that these disruptions could produce abnormal weight changes.

Conclusion

DES is a rare condition and typically only presents in infants and toddlers. Thus, this syndrome occurring in teenage populations represents a rare diagnosis in an unexpected demographic. The novelty of this presentation led to delays in diagnosis and effective treatment. Greater awareness of the occurrence of DES in atypical demographics is needed to ensure proper patient management.

两名儿科患者在摄入正常热量的情况下出现意外体重减轻。两名患者后来均出现神经系统症状，并在下丘脑-视交叉区发现肿瘤病变。肿瘤的位置和显著的体重减轻与间脑综合征（DES）一致，这通常发生在婴儿和幼儿中。然而，两名患者都是十几岁，因此大大偏离了这种疾病的正常年龄范围。方法/结果通过资料复习，重点分析患者的临床过程和最终诊断的相似之处。这两名患者最终都被诊断为DES。治疗患者的肿瘤使他们的体重显著增加，并恢复了日常生活活动。虽然DES的确切发病机制尚不完全清楚，但其症状与下丘脑功能障碍有关。DES被认为是下丘脑饥饿和饱腹感控制机制的一种紊乱。由于两例患者的肿瘤均位于下丘脑-视交叉区，预计不断增大的肿块会压迫下丘脑，破坏正常的下丘脑功能。由于下丘脑在饥饿和饱腹感控制机制中的作用，这些干扰可能导致体重异常变化是合乎逻辑的。结论DES是一种罕见的疾病，仅发生于婴幼儿。因此，在青少年人群中出现的这种综合征在一个意想不到的人口统计学中是一种罕见的诊断。这种新奇的表现导致了诊断和有效治疗的延误。需要提高对非典型人口统计学中DES发生的认识，以确保适当的患者管理。

{"title":"Diencephalic Syndrome in Adolescents: A Case Series","authors":"Toritseju I. Kpenosen, Owen N. Chandler, Scott I. Otallah","doi":"10.1002/cns3.20099","DOIUrl":"https://doi.org/10.1002/cns3.20099","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Two pediatric patients presented with unintentional weight loss despite normal caloric intake. Both patients later developed neurological symptoms, and a neoplastic lesion was detected in the hypothalamic-optic chiasmatic region. The location of the tumor and the significant weight loss aligned with diencephalic syndrome (DES), which typically occurs in infants and young children. However, both patients were in their teens and thus greatly deviated from the normal age range of this disorder.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods/Results</h3>\u0000 \u0000 <p>After chart review we analyzed the patients with a focus on the similarities in their clinical course and final diagnosis. Both patients were ultimately diagnosed with DES. Managing the patients' tumors allowed them to experience significant weight gain and return to daily life activities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Although the exact pathogenesis for DES is not fully understood, the symptoms are associated with hypothalamic dysfunction. DES has been accepted as a disorder of the hypothalamic hunger and satiety control mechanisms. With both patients having tumors in the hypothalamic-optic chiasmatic region, it is expected that the growing mass would compress the hypothalamus and disrupt normal hypothalamic function. Because of the hypothalamus' role in hunger and satiety control mechanisms, it is logical that these disruptions could produce abnormal weight changes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>DES is a rare condition and typically only presents in infants and toddlers. Thus, this syndrome occurring in teenage populations represents a rare diagnosis in an unexpected demographic. The novelty of this presentation led to delays in diagnosis and effective treatment. Greater awareness of the occurrence of DES in atypical demographics is needed to ensure proper patient management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"3 1","pages":"37-40"},"PeriodicalIF":0.0,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20099","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Postconcussive symptom severity, risk factors for prolonged recovery, and mental health history: Pathways of influence in a diverse pediatric sample 脑震荡后症状严重程度、长期恢复的危险因素和精神健康史：不同儿科样本的影响途径

Annals of the Child Neurology Society

Pub Date : 2024-11-25 DOI: 10.1002/cns3.20094

Laura K. Winstone-Weide, Kelly Gettig, Cynthia A. Austin

Introduction

The objective of this study was to confirm previous risk factors for concussion recovery in a diverse pediatric sample and to elucidate the pathways by which individual mental health factors influence postconcussive symptom reporting and time to clearance.

Methods

Subjects between 13 and 17 years of age (N = 642; mean age = 15.40; 45% female) were analyzed from a prospectively completed database associated with a multidisciplinary TBI/concussion clinic in the southwest United States. Fifty-four percent of participants identified as Hispanic, 41% received medical coverage through Medicaid, and 54% were injured during participation in an organized sports team. Mediation analysis using a structural equational framework was employed to examine the significance of both direct and indirect effects from preinjury factors (e.g., prior concussions, female gender, history of migraines, anxiety, depression, attention-deficit/hyperactivity disorder [ADHD], and learning disorders) on postinjury symptom reporting (at baseline and visit 1) and time to clearance.

Results

Higher symptom reporting at baseline was significantly associated with history of anxiety, depression, ADHD, headaches, and female gender. Higher symptom reporting at visit 1 was significantly associated with baseline symptoms, female gender, and history of anxiety. Symptom scores at baseline fully accounted for the relation between history of depression and symptom scores at visit 1 and only partially accounted for the relation between history of anxiety and symptom scores at visit 1. Only history of anxiety indirectly contributed to greater days to clearance through higher symptom scores at visit 1.

Discussion

This study supports the concept that heterogenous experience following injury is influenced by preinjury factors and extends the generalizability of risk factors to a diverse sample of youth in terms of ethnicity, insurance status/type, and mechanism of injury. Anxiety and depression represent important noninjury factors that warrant considerable attention during concussion treatment and management.

本研究的目的是在不同的儿童样本中确认先前脑震荡恢复的危险因素，并阐明个体心理健康因素影响脑震荡后症状报告和清除时间的途径。方法13 ~ 17岁受试者(N = 642；平均年龄= 15.40；（45%为女性）从美国西南部一家多学科TBI/脑震荡诊所前瞻性完成的数据库中进行分析。54%的参与者被认定为西班牙裔，41%通过医疗补助计划获得医疗保险，54%在参加有组织的运动队期间受伤。采用结构方程框架进行中介分析，以检验损伤前因素（如既往脑震荡、女性性别、偏头痛史、焦虑、抑郁、注意力缺陷/多动障碍[ADHD]和学习障碍）对损伤后症状报告（基线和第一次就诊时）和清除时间的直接和间接影响的意义。结果基线时较高的症状报告与焦虑、抑郁、注意力缺陷多动障碍、头痛和女性病史显著相关。第一次就诊时较高的症状报告与基线症状、女性性别和焦虑史显著相关。基线时的症状评分完全解释了抑郁史与第一次就诊时的症状评分之间的关系，而仅部分解释了焦虑史与第一次就诊时的症状评分之间的关系。只有焦虑史间接促成了更长的时间，通过更高的症状评分在就诊1。本研究支持损伤后异质性经历受损伤前因素影响的概念，并将风险因素的普遍性扩展到不同种族、保险状况/类型和损伤机制的青年样本中。焦虑和抑郁是重要的非损伤因素，在脑震荡治疗和管理过程中需要引起相当大的注意。

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引用次数: 0

Annals of the Child Neurology Society

Pub Date : 2024-11-20 DOI: 10.1002/cns3.20088

Isabella Eiler, Hope M. Reecher, Katherine Carlton, Erwin Cabacungan, Susan Cohen, Samuel Adams, Jenna Jozwik, Avantika Singh

Objective

A newborn with GRIN1-related early infantile developmental and epileptic encephalopathy (DEE) with striking pharmacoresistance is described with emphasis on potential therapy with memantine and vigabatrin.

Methods

The term neonate manifested electrographic and electroclinical seizures from the first day of life with focal tonic seizures with apnea, bradycardia, and desaturations and later developed epileptic spasms and a hyperkinetic movement disorder. Multiple antiseizure medication trials were unsuccessful. Brain magnetic resonance imaging displayed extensive malformations of cortical development.

Results

Whole-exome sequencing demonstrated a de novo novel GRIN1 variant (1916T > G,p.Phe639Cys), which can be associated with NMDA receptor dysfunction. Gain-of-function mutation was suspected based on phenotype correlation. Seizures markedly improved after initiation of memantine, an NMDA-receptor antagonist. Memantine was complemented by the concurrent use of vigabatrin, initiated 4 days earlier due to emergence of epileptic spasms. Significant reduction in seizures facilitated discharge from neonatal intensive care unit.

Interpretation

GRIN1-related disorders occur due to NMDA receptor dysfunction. Patients with gain-of-function GRIN1 mutations who present with the phenotype of DEE with extensive bilateral polymicrogyria may benefit from a trial of NMDA-receptor antagonist therapy and vigabatrin. Further research is warranted to better understand this markedly pharmacoresistant condition and to investigate targeted therapies in GRIN1 DEE.

目的报道1例具有显著耐药的grin1相关性早期婴儿发育性和癫痫性脑病（DEE）新生儿，重点介绍美金刚和维加巴林的潜在治疗方法。方法足月新生儿从出生第一天起表现为电图和电临床癫痫发作，局灶性强直性癫痫发作伴呼吸暂停、心动过缓和去饱和，后发展为癫痫性痉挛和多动性运动障碍。多次抗癫痫药物试验均未成功。脑磁共振成像显示广泛的皮质发育畸形。结果全外显子组测序证实了一种全新的GRIN1变异（1916T >； G,p.Phe639Cys），该变异可能与NMDA受体功能障碍有关。基于表型相关性怀疑功能获得突变。开始使用美金刚（一种nmda受体拮抗剂）后，癫痫发作明显改善。由于癫痫性痉挛的出现，在4天前开始使用维加巴林补充美金刚。显著减少癫痫发作有利于新生儿重症监护病房出院。grin1相关疾病的发生是由于NMDA受体功能障碍。具有功能获得性GRIN1突变并伴有广泛双侧多小回畸形的DEE表型的患者可能从nmda受体拮抗剂治疗和维加巴林的试验中获益。有必要进一步研究以更好地了解这种明显的耐药状况，并研究GRIN1 DEE的靶向治疗。

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引用次数: 0

Charcot-Marie-Tooth disease in children 儿童夏科-马里-牙病

Annals of the Child Neurology Society

Pub Date : 2024-11-11 DOI: 10.1002/cns3.20093

Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan

Charcot-Marie-Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals. Despite this, CMT comprises only 118 of 853 inherited neuropathy entries in the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive review offers a thorough examination of CMT's clinical features, subtypes, genetic underpinnings, and pathomechanisms in pediatric cases. CMT typically manifests as progressively worsening muscle weakness and atrophy, primarily affecting the distal extremities. Patients may also experience foot and ankle deformities, hand atrophy, and other systemic issues. To accurately diagnose CMT, a detailed family history, comprehensive clinical evaluation, nerve conduction studies, and relevant genetic testing are essential. Importantly, establishing a differential diagnosis is crucial during evaluation to rule out other conditions with similar presentations. This review aims to provide clinicians with a valuable resource for diagnosing and managing CMT, emphasizing the need for a streamlined and standardized approach considering advancements in genetic testing and the identification of various subtypes.

沙科-玛丽-图斯病（CMT）代表了一组具有广泛症状的遗传性神经病变。它是最普遍的遗传性神经病变，估计患病率为每10万人9.7至82例。尽管如此，CMT在人类在线孟德尔遗传（OMIM）数据库中仅包含853个遗传性神经病变条目中的118个。这项全面的审查提供了CMT的临床特征，亚型，遗传基础和儿科病例的病理机制的彻底检查。CMT通常表现为逐渐恶化的肌肉无力和萎缩，主要影响远端肢体。患者还可能出现足部和踝关节畸形、手部萎缩和其他系统性问题。为了准确诊断CMT，详细的家族史、全面的临床评估、神经传导研究和相关的基因检测是必不可少的。重要的是，在评估过程中建立鉴别诊断是至关重要的，以排除其他具有类似表现的条件。本综述旨在为临床医生提供诊断和管理CMT的宝贵资源，强调考虑到基因检测和各种亚型识别的进步，需要一种简化和标准化的方法。

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引用次数: 0

Exaggerated T-wave alternans in children with Angelman syndrome 安杰尔曼综合征患儿的 T 波交替增快

Annals of the Child Neurology Society

Pub Date : 2024-11-11 DOI: 10.1002/cns3.20092

Eleonora Tamilia, Navaneethakrishna Makaram, Georgios Ntolkeras, Assia Chericoni, Sebastian Holst, Joerg Hipp, Alexander Rotenberg

Objective

We aimed to test whether T-wave alternans (TWA), which is a marker of susceptibility to ventricular fibrillation, is abnormal in children with Angelman syndrome (AS) compared with typically developing children (TDC), and whether it can be used as a biomarker of AS.

Materials and Methods

Using surface electrocardiogram (ECG), we calculated TWA in AS and compared it between AS and TDC (Wilcoxon rank sum test). We then performed logistic regression to test TWA ability to distinguish AS from TDC.

Results

We observed higher TWA in AS than TDC (44 vs. 33 uV, p = 0.009), while heart rate did not differ (p = 0.26), nor its variability (p = 0.72). TWA values enabled discrimination between AS and TDC (p = 0.0008) with accuracy of 81%, positive predictive value of 72%, and negative predictive value of 100%.

Interpretation

Our findings suggest that ECG in children with AS contains evidence of acquired cardiac abnormality via pathologically increased TWA.

目的探讨Angelman综合征（AS）患儿与正常发育儿童（TDC）相比，t波交替（TWA）作为心室颤动易感性指标是否存在异常，并探讨TWA是否可作为AS的生物标志物。材料与方法采用体表心电图（ECG）计算AS的TWA，并将AS与TDC进行比较（Wilcoxon秩和检验）。然后，我们进行了逻辑回归来测试TWA区分AS和TDC的能力。结果我们观察到AS患者的TWA高于TDC患者（44 vs. 33 uV, p = 0.009），而心率没有差异（p = 0.26），其变异性也没有差异（p = 0.72）。TWA值能够区分AS和TDC (p = 0.0008)，准确率为81%，阳性预测值为72%，阴性预测值为100%。我们的研究结果表明，AS儿童的心电图包含通过病理性TWA增加获得性心脏异常的证据。

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引用次数: 0

The use of dynamic magnetic resonance angiography in the diagnosis of rotational vertebral artery syndrome 动态磁共振血管造影在椎动脉旋转综合征诊断中的应用

Annals of the Child Neurology Society

Pub Date : 2024-11-08 DOI: 10.1002/cns3.20091

Chrisoula Cheronis, Grant L. Lin, Andrew Silverman, Alexandra Johnson, Sarah Lee

Background

Rotational vertebral artery (VA) syndrome represents a rare mechanical vasculopathy that can lead to vertebrobasilar insufficiency and ischemic stroke.

Objective

We describe a 10-year-old boy with a history of chronic morning emesis who presented with acute onset dizziness, gait instability, and vomiting and was diagnosed with acute ischemic posterior circulation stroke.

Interpretation

Contrast-enhanced magnetic resonance angiography (MRA) of the head and neck with dynamic positioning demonstrated loss of flow-related enhancement with head tilted to the left, conferring a diagnosis of rotational VA syndrome. He started aspirin monotherapy and subsequently underwent C1 laminectomy, with both radiographic and clinical improvement on follow-up.

Conclusion

Dynamic contrasted-enhanced MRA imaging can serve as a noninvasive alternative to digital subtraction angiography in the diagnosis of rotational VA syndrome and should be considered in suspected cases of pediatric rotational arteriopathy.

背景旋转椎动脉（VA）综合征是一种罕见的机械性血管病变，可导致椎基底动脉功能不全和缺血性中风。目的我们描述了一名10岁的男孩，他有慢性晨吐史，表现为急性起病头晕、步态不稳和呕吐，并被诊断为急性缺血性后循环卒中。动态定位的头部和颈部磁共振血管造影（MRA）显示头部向左倾斜时血流相关增强丧失，诊断为旋转VA综合征。他开始阿司匹林单药治疗，随后接受C1椎板切除术，随访时影像学和临床均有改善。结论动态对比增强MRA成像可作为一种无创替代数字减影血管造影诊断旋转VA综合征的方法，在小儿旋转动脉病变疑似病例中应予以考虑。

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引用次数: 0