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Corrigendum to "Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation". 难治性杰文斯综合征从出生症状到 PLCB1 基因突变 "的更正。
Child neurology open
Pub Date : 2024-08-30 eCollection Date: 2024-01-01 DOI: 10.1177/2329048X241279557

[This corrects the article DOI: 10.1177/2329048X231183524.].

[此处更正了文章 DOI：10.1177/2329048X231183524]。
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引用次数: 0
Recurrent Spinal Arteriovenous Malformations in a Patient with Cobb Syndrome. 一名柯布综合征患者的复发性脊髓动静脉畸形。
Child neurology open
Pub Date : 2024-04-04 eCollection Date: 2024-01-01 DOI: 10.1177/2329048X231225305
Nicholas Mulchan, Mekka R Garcia, John T Wells

Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes.

柯布综合征是一种罕见的神经皮肤病，其特征是多发性脊髓血管异常和影响相应皮节的血管性皮肤病变。我们报告了一例 12 岁男孩的病例，他的脊柱动静脉畸形（AVM）延伸至 T4-T5，3 年前部分栓塞后出现胸背部色素沉着斑，并伴有 2 天的背痛、下肢麻木和无力。他的脊柱和脊柱旁组织内有多个 III 型动静脉畸形，涉及 T4 至 T7 椎体，其中以 T4 和 T5 椎体最为广泛。位于主 AVM 瘤巢汇合处的最大动脉瘤是一个 4 毫米的脊髓前动脉瘤，在对主 AVM 瘤巢进行部分栓塞后，动脉瘤完全闭塞。本报告就柯布综合征的自然史、复发风险和治疗方案提供了宝贵的见解，有助于早期诊断和改善预后。
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引用次数: 0
Mercury Induced Autoimmunity: A Case of CASPR2/LGI1 Autoimmune Encephalitis in a 14-Month-old 汞诱导的自身免疫：一例 14 个月大的 CASPR2/LGI1 自身免疫性脑炎病例
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x241227347
Ariel Heller, Krystal Nolan, Salvatore Rametta
Contactin-associated protein-like 2 (CASPR2) autoantibodies are among those associated with several syndromes with effects on both the central and peripheral nervous systems including neuropathy and encephalitis and is most commonly seen in middle-aged to elderly males. We present a case of autoimmune encephalitis in a 14-month-old female presenting with altered mental status, refusal to bear weight, and hypertension in the setting of mercury exposure. This is the youngest reported case of CASPR2/LGI1/VGKC antibody associated autoimmune encephalitis stimulated by mercury exposure.
接触素相关蛋白样 2（CASPR2）自身抗体与多种综合征有关，这些综合征对中枢和外周神经系统均有影响，包括神经病变和脑炎，最常见于中老年男性。我们报告了一例 14 个月大的女性自身免疫性脑炎病例，她在汞暴露的情况下出现精神状态改变、拒绝负重和高血压。这是报告的因汞暴露而引起的 CASPR2/LGI1/VGKC 抗体相关自身免疫性脑炎的最年轻病例。
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引用次数: 0
A Farewell to Child Neurology Open 告别儿童神经学公开课
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x241231391
Alison L Christy
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引用次数: 0
Retraction Notice - Early Identification of DMD in the Setting of West Syndrome. Child Neurology Open. 撤稿通知--在韦斯特综合征的背景下早期识别 DMD。儿童神经病学公开课》。
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x241241207
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引用次数: 0
A Severe Case of Streptococcus pneumoniae Meningoencephalitis in an Infant Resulting in Fatal Strokes 婴儿肺炎链球菌脑膜脑炎导致致命中风的严重病例
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x241227341
Michelle Goodman, Mekka R. Garcia, Heidy Wang, Maria J. Borja, Claire Miller, Devorah Segal
Streptococcus pneumoniae (S. Pneumoniae) is a common cause of bacterial meningitis in the pediatric population, but rarely causes complications such as encephalitis, abscess, and seizures with the prompt initiation of proper antimicrobial therapy. In this report, we present a rare and severe case of S. Pneumoniae meningoencephalitis in a full term 6-month-old which progressed to multiple cerebral and cerebellar infarcts with concomitant cerebellar tonsillar herniation and hypercarbic respiratory failure requiring intubation and mechanical ventilation despite early initiation of antibiotics. Given the patient's clinical status and poor neurological prognosis, the family eventually opted for palliative extubation.
肺炎链球菌（S. Pneumoniae）是儿科细菌性脑膜炎的常见病因，但如果及时采用适当的抗菌治疗，很少会引起脑炎、脓肿和癫痫发作等并发症。在本报告中，我们介绍了一例罕见的严重肺炎双球菌脑膜炎病例，患者足月，6 个月大，病情发展为多发性大脑和小脑梗塞，同时伴有小脑扁桃体疝和高碳酸血症呼吸衰竭，尽管早期使用了抗生素，但仍需要插管和机械通气。鉴于患者的临床状况和神经系统的不良预后，家属最终选择了姑息性拔管。
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引用次数: 0
“Oh My Sleeping Child” … Narcolepsy Type 1 in a 22-Month-Old Boy "哦，我熟睡的孩子"......一名 22 个月大男孩的 1 型嗜睡症
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x231225916
Barbra Giourgas, Alexandra Morgan, Sonal Bhatia
Pediatric narcolepsy is a complex disorder with unique diagnostic challenges. It is diagnosed with a combination of clinical presentation, polysomnogram with multiple sleep latency test (PSG with MSLT), and occasionally, hypocretin-1 (orexin) levels in the cerebrospinal fluid (CSF). This report describes a 22-month-old boy experiencing excessive daytime sleepiness (EDS) and frequent falls. The patient was subsequently diagnosed with narcolepsy using hypocretin-1 (orexin) levels. The intent of this report is to establish the utility of using hypocretin-1 (orexin) levels to diagnose narcolepsy type 1 in children who are too young to undergo PSG with MSLT. To our knowledge, there are no reports of narcolepsy in a patient this young. Early recognition and treatment of narcolepsy in children younger than age five may lead to a substantial impact on their cognitive development and minimize potential long- term complications.
小儿嗜睡症是一种复杂的疾病，具有独特的诊断难题。诊断时要综合考虑临床表现、多导睡眠图和多重睡眠潜伏期测试（PSG with MSLT），有时还要考虑脑脊液（CSF）中的视网膜下素-1（orexin）水平。本报告描述了一名 22 个月大的男孩白天过度嗜睡（EDS）和频繁跌倒的情况。根据脑脊液中的降视素-1（orexin）水平，患者随后被诊断为嗜睡症。本报告旨在确定使用下视蛋白-1（orexin）水平诊断年龄太小无法接受 MSLT PSG 的儿童嗜睡症 1 型的实用性。据我们所知，目前还没有关于如此年幼的嗜睡症患者的报道。对五岁以下儿童的嗜睡症进行早期识别和治疗，可能会对他们的认知发展产生重大影响，并将潜在的长期并发症降至最低。
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引用次数: 0
Cortical Hand Knob Paradoxical Thromboembolic Stroke in an Adolescent with Secundum Atrial Septal Defect and Paget-Schroetter Syndrome 患有房间隔缺损和帕吉特-施罗特综合征的青少年皮质手钮悖论性血栓栓塞性中风
Child neurology open
Pub Date : 2024-01-01 DOI: 10.1177/2329048x231225314
M. Parfyonov, Danielle Porritt, Dakota Peacock, Ryan Dragoman, James Lee
Venous thoracic outlet syndrome (vTOS) is an increasingly recognized diagnosis in young patients in which the subclavian vein is compressed within the costoclavicular space. With repetitive compression, thrombosis can develop and has been referred to as “effort thrombosis” or the Paget-Schroetter syndrome. Here, we present a 16-year-old boy with vTOS who presented with acute ischemic stroke (AIS) in the hand knob region of precentral gyrus due to paradoxical embolus in the setting of atrial septal defect.
静脉胸廓出口综合征（vTOS）是越来越多年轻患者被诊断为锁骨下静脉受压于肋锁骨间隙的一种疾病。反复压迫可导致血栓形成，被称为 "努力血栓形成 "或帕吉特-施罗特综合征。在此，我们介绍一名患有 vTOS 的 16 岁男孩，他因房间隔缺损引起的矛盾性栓塞而导致手部旋钮区前中央回急性缺血性卒中（AIS）。
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引用次数: 0
Approaching Autism Diagnosis and Care Through the Lens of Gender Diversity. 从性别多样性的角度看待自闭症的诊断和护理。
Child neurology open
Pub Date : 2023-12-17 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231219201
Margaret Goss, Carolyn K Huynh, Matthew Taing, Audrey C Brumback
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引用次数: 0
Prevalence & Risk Factors for Perinatal Stroke: A Population-Based Study. 围产期中风的发病率和风险因素：基于人口的研究。
Child neurology open
Pub Date : 2023-12-17 eCollection Date: 2023-01-01 DOI: 10.1177/2329048X231217691
Bithi Roy, Annabel Webb, Karen Walker, Catherine Morgan, Nadia Badawi, Carlos Nunez, Guy Eslick, Alison L Kent, Rod W Hunt, Mark T Mackay, Iona Novak

Objectives: The study objective was to calculate the birth prevalence of perinatal stroke and examine risk factors in term infants. Some risk factors are present in healthy infants, making it difficult to determine at-risk infants.

Study design: Prospective population-based perinatal stroke data were compared to the Australian general population data using chi-squared and Fisher's exact tests and multivariable logistic regression analysis.

Results: Sixty perinatal stroke cases were reported between 2017 and 2019. Estimated stroke prevalence was 9.6/100,000 live births/year including 5.8 for neonatal arterial ischemic stroke and 2.9 for neonatal hemorrhagic stroke. Eighty seven percent had multiple risk factors. Significant risk factors were cesarean section (p = 0.04), 5-min Apgar score <7 (p < 0.01), neonatal resuscitation (p < 0.01) and nulliparity (p < 0.01).

Conclusions: Statistically significant independent risk factors do not fully explain the cause of perinatal stroke, because they are not a direct causal pathway to stroke. These data now require validation in a case-control study.

研究目的研究目的是计算围产期中风的出生患病率并检查足月儿的风险因素。某些风险因素在健康婴儿中也存在，因此很难确定高危婴儿：研究设计：采用卡方检验、费雪精确检验和多变量逻辑回归分析，将基于人群的前瞻性围产期中风数据与澳大利亚普通人群数据进行比较：2017年至2019年期间报告了60例围产期中风病例。估计中风发病率为 9.6/100,000 活产/年，其中新生儿动脉缺血性中风为 5.8，新生儿出血性中风为 2.9。87%的新生儿有多种风险因素。显著的风险因素是剖宫产（p = 0.04）、5 分钟 Apgar 评分 p p p 结论：具有统计学意义的独立危险因素并不能完全解释围产期中风的原因，因为它们不是中风的直接因果途径。这些数据现在需要在病例对照研究中进行验证。
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