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PHACE syndrome: A review PHACE 综合征:综述。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101152
Louisa Keith
PHACE syndrome is a neurocutaneous disorder consisting of posterior fossa brain abnormalities, facial infantile hemangioma, arterial anomalies, cardiac anomalies (most commonly coarctation of the aorta), and eye anomalies. While the cutaneous finding of infantile hemangioma represents the most clinically apparent feature, extracutaneous findings—specifically, developmental abnormalities of the aorta and medium-sized thoracic, cervical, and cerebral arteries—are common and pose significant potential morbidity and mortality. Cerebral arteriopathy can be progressive and lead to arterial ischemic stroke in childhood and increased stroke risk in adulthood; headache and neurodevelopmental symptoms are also common. Thus, it is important for pediatric neurologists to be familiar with this disorder and its potential structural and functional neurological sequelae. This review article summarizes the clinical features, diagnostic considerations, epidemiology, and management of this condition with an emphasis on features most pertinent to the practicing pediatric neurologist.
PHACE 综合征是一种神经皮肤疾病,由脑后窝畸形、面部婴儿血管瘤、动脉畸形、心脏畸形(最常见的是主动脉粥样硬化)和眼部畸形组成。虽然婴儿血管瘤的皮肤发现是最明显的临床特征,但皮肤外的发现--特别是主动脉和中等大小的胸、颈和脑动脉的发育异常--也很常见,并可能造成严重的发病率和死亡率。脑动脉病变可呈进行性发展,导致儿童期动脉缺血性中风和成年期中风风险增加;头痛和神经发育症状也很常见。因此,小儿神经科医生必须熟悉这种疾病及其潜在的神经结构和功能后遗症。这篇综述文章总结了这种疾病的临床特征、诊断注意事项、流行病学和治疗方法,重点是与儿科神经科医生实践最相关的特征。
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引用次数: 0
Foreword to neurocutaneous disorders identified in the neonatal period and infancy 新生儿期和婴儿期发现的神经皮肤疾病前言。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101157
Leah Ferrante, Chelsey Ortman
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引用次数: 0
Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management. Sturge-Weber 综合征:病史、遗传学、临床表现和治疗概述。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101151
Emily Lynn Ramirez , Kristina Jülich
First described in the late 1800′s, Sturge-Weber syndrome is one of the more common neurocutaneous disorders. In most cases, it is caused by a somatic mosaic variant in the GNAQ gene driving aberrant overgrowth in endothelial cells which leads to capillary-venous malformations. Characteristic findings are unilateral facial port-wine stain, ipsilateral parieto-occipital leptomeningeal angioma with calcifications and atrophy, and ipsilateral glaucoma, though there is significant variability. The predilection for facial skin and brain is likely due to common embryologic progenitors. The risk of brain involvement is increased with a hemifacial, forehead, or medial facial port-wine stain. Neurologic features include epilepsy, stroke-like episodes, transient or permanent hemiparesis and visual field deficit, headaches, and cognitive and behavioral impairment. Magnetic resonance imaging reveals contrast-enhancing leptomeningeal angiomatosis, progressive atrophy, calcifications, and ipsilateral dilated choroid plexus. The treatment of glaucoma typically requires surgery and port-wine stains are treated with laser therapy. Retrospective data from small cohorts show potential benefits of presymptomatic treatment with anti-seizure medications and/or low dose aspirin. Epilepsy surgery can benefit those with a greater degree of hemiparesis and intractable seizures. Low-dose aspirin has proven effective in lowering the frequency and severity of recoverable stroke-like events. Sirolimus has been reported preliminarily to have satisfactory results regarding cognitive function in pediatric patients, but is not a mainstay of treatment to date. Quality of life is often negatively affected by port-wine stain appearance, intractable seizures, headaches, and mood disorders. Future studies are warranted assessing medication and surgery outcomes, quality of life measures, and timing of imaging and treatment initiation.
Sturge-Weber 综合征是一种较常见的神经皮肤病,最早于 19 世纪末被描述。在大多数病例中,该病是由内皮细胞异常过度生长导致毛细血管-静脉畸形的基因体细胞镶嵌变异引起的。其特征性表现为单侧面部葡萄酒色斑、同侧顶枕部隐静脉血管瘤伴钙化和萎缩,以及同侧青光眼,但也存在很大差异。面部皮肤和大脑的偏好可能是由于共同的胚胎祖先。如果出现半面部、前额或面部内侧葡萄酒色斑,脑部受累的风险就会增加。神经系统特征包括癫痫、中风样发作、一过性或永久性偏瘫和视野缺损、头痛以及认知和行为障碍。磁共振成像显示对比度增强的脑膜血管瘤病变、进行性萎缩、钙化和同侧脉络丛扩张。青光眼的治疗通常需要手术,而葡萄酒色斑则需要激光治疗。小规模队列的回顾性数据显示,使用抗癫痫药物和/或小剂量阿司匹林进行无症状治疗可能会带来益处。癫痫手术可使偏瘫程度较高和难治性癫痫发作的患者受益。事实证明,小剂量阿司匹林可有效降低可恢复性中风样事件的频率和严重程度。据初步报道,西罗莫司对儿童患者的认知功能有令人满意的效果,但迄今为止还不是主要的治疗手段。葡萄酒色斑、顽固性癫痫发作、头痛和情绪障碍通常会对生活质量产生负面影响。未来的研究需要对药物治疗和手术治疗的效果、生活质量的衡量标准以及影像学检查和开始治疗的时机进行评估。
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引用次数: 0
Congenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities 先天性黑素细胞痣综合征:先天性黑素细胞痣与神经系统异常之间的关联。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101153
Jennifer Ruth
Congenital melanocytic nevus syndrome describes congenital melanocytic nevi (CMN) associated with extracutaneous abnormalities, most often involving the nervous system. CMN syndrome is usually caused by postzygotic mutations in the neuroblastoma RAS viral oncogene homolog (NRAS) gene. CMN, collections of melanocytes within the skin, are typically multiple in number and serve as a visible, cutaneous marker of this syndrome. CMN can be classified by predicted maximum diameter in adulthood as well as other clinical features such as anatomic location, color heterogeneity, hypertrichosis, number of satellite nevi, nodules, and surface rugosity. Common neurological abnormalities in CMN syndrome include melanin with the central nervous system (CNS), seizures, and neurodevelopmental delays. Early screening magnetic resonance imaging (MRI) of the CNS during the initial months of life is crucial for predicting the risk of neurodevelopmental abnormalities, seizures, and the need for neurosurgical intervention. Children with a normal screening CNS MRI or intraparenchymal melanosis alone tend to have favorable outcomes. Prognosis otherwise varies widely given the breadth of neurological abnormalities that can occur in CMN syndrome, however if primary melanoma develops in the skin or CNS then outcomes are typically poor.
先天性黑素细胞痣综合征是指先天性黑素细胞痣(CMN)伴有皮外异常,最常见的是神经系统异常。先天性黑素细胞痣综合征通常是由神经母细胞瘤 RAS 病毒癌基因同源物(NRAS)基因的婚后突变引起的。CMN 是皮肤内黑色素细胞的集合,通常有多个,是这种综合征的可见皮肤标志。CMN 可根据预测的成年期最大直径以及其他临床特征(如解剖位置、颜色异质性、肥厚、卫星痣数量、结节和表面凹凸不平)进行分类。CMN 综合征常见的神经系统异常包括中枢神经系统(CNS)黑色素沉着、癫痫发作和神经发育迟缓。出生后最初几个月的早期中枢神经系统磁共振成像(MRI)筛查对于预测神经发育异常、癫痫发作和神经外科干预需求的风险至关重要。筛查中枢神经系统核磁共振成像正常或仅有实质内黑色素沉着的患儿往往预后良好。由于 CMN 综合征可能会出现多种神经系统异常,因此预后差异很大,但如果原发性黑色素瘤发生在皮肤或中枢神经系统,则预后通常较差。
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引用次数: 0
Neurocutaneous disorders identified in the neonatal period and infancy: Hypomelanosis of Ito 新生儿期和婴儿期发现的神经皮肤疾病:伊藤黑化病。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101154
George Zakhary , Margie Ream
Hypomelanosis of Ito is a rare neurocutaneous disorder named after the Japanese dermatologist Minoru Ito who in 1952 described the condition. Characteristically, the hypopigmented lesions in this condition follow Blaschko lines. Extracutaneous manifestations of the disease include neurological, musculoskeletal, cardiac, endocrine, and renal signs and symptoms. The most common neurological manifestation is cognitive impairment. Seizures, developmental delay, and abnormal tone can also be present. In this review we discuss the condition's clinical presentations, its diagnostic criteria, and consensus recommendations.
伊藤色素沉着症是一种罕见的神经性皮肤病,以日本皮肤科医生伊藤实(Minoru Ito)的名字命名。这种疾病的特征是色素沉着病变遵循布拉什科线。该病的皮外表现包括神经、肌肉骨骼、心脏、内分泌和肾脏症状和体征。最常见的神经系统表现是认知障碍。此外,还可能出现癫痫发作、发育迟缓和张力异常。在这篇综述中,我们将讨论该病的临床表现、诊断标准和共识建议。
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引用次数: 0
Neuroimaging considerations in abusive head trauma 虐待性头部创伤的神经影像学考虑因素
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101140
Katherine W. Canty , Abigail Keogh , Joanne Rispoli

This focused review on abusive head trauma describes the injuries to the head, brain and/or spine of an infant or young child from inflicted trauma and their neuroimaging correlates. Accurate recognition and diagnosis of abusive head trauma is paramount to prevent repeated injury, provide timely treatment, and ensure that accidental or underlying medical contributors have been considered. In this article, we aim to discuss the various findings on neuroimaging that have been associated with AHT, compared to those that are more consistent with accidental injuries or with underlying medical causes that may also be on the differential.

这篇关于虐待性头部创伤的重点综述描述了婴幼儿头部、大脑和/或脊柱因外伤造成的损伤及其神经影像学相关性。准确识别和诊断虐待性头部创伤对于防止重复伤害、提供及时治疗以及确保考虑到意外或潜在的医疗因素至关重要。在本文中,我们将讨论与虐待性头部创伤相关的各种神经影像学检查结果,以及与意外伤害或潜在的医学原因更一致的检查结果。
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引用次数: 0
Young people in foster care and substance use 寄养青少年与药物使用
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101136
Megan Radenhausen , Jacqueline Unkrich , Sarah J. Beal , Shauna Acquavita , Mary V. Greiner

Adolescents are at high risk for using substances and for young people in foster care, substance use rates are estimated to be as high as 49 %. Adolescence is an important period for preventing substance use and SUD. Universal screening, brief interventions, and substance use treatment can be used to decrease substance use and substance use disorders among adolescents. Brief interventions often used with adolescents include motivational interviewing and contingency management. Of the many types of outpatient therapies utilized to treat adolescents with substance use disorder, some of the most established include cognitive behavioral therapy, family-based therapy, and a combination of different types of interventions. Medication treatment is less frequently offered to adolescents due to buprenorphine being the only drug FDA approved for youth under the age of 18. Residential treatment is also an option if lower levels of care are not adequate to safely support youth. Lastly, limited research has looked at the effectiveness of continuing care options to support youth in maintaining treatment results.

青少年是使用药物的高危人群,据估计,寄养青少年使用药物的比例高达 49%。青少年时期是预防药物使用和药物滥用的重要时期。普遍筛查、简单干预和药物使用治疗可用于减少青少年的药物使用和药物使用障碍。常用于青少年的简单干预包括动机访谈和应急管理。在治疗青少年药物使用障碍的多种门诊疗法中,一些最成熟的疗法包括认知行为疗法、家庭疗法以及不同类型干预措施的组合。由于丁丙诺啡是美国食品及药物管理局批准用于 18 岁以下青少年的唯一药物,因此较少向青少年提供药物治疗。如果较低水平的治疗不足以为青少年提供安全支持,也可以选择住院治疗。最后,有关持续护理方案在支持青少年保持治疗效果方面的有效性的研究十分有限。
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引用次数: 0
Identifying inflicted injuries in infants and young children 识别婴幼儿受到的伤害
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101138
Nara Cho , Ajay S. Koti

Child physical abuse is a common cause of pediatric morbidity and mortality. Up to half of all children presenting with abusive injuries have a history of a prior suspicious injury, suggesting a pattern of repeated physical abuse. Medical providers are responsible for identifying children with suspicious injuries, completing mandated reporting to child protective services for investigation, and screening for occult injuries and underlying medical conditions that can predispose to injuries. Early identification of inflicted injuries appropriate evaluations may serve as an opportunity for life-saving intervention and prevent further escalation of abuse. However, identification of abuse can be challenging. This article will review both physical exam findings and injuries that suggest abuse as well as the evaluation and management of physical abuse.

儿童身体虐待是儿科发病和死亡的常见原因。在所有出现虐待伤的儿童中,有多达一半的儿童曾有过可疑伤害的病史,这表明存在反复身体虐待的模式。医疗服务提供者有责任识别有可疑伤害的儿童,完成向儿童保护服务机构的强制报告以进行调查,并筛查隐性伤害和可能导致伤害的潜在疾病。及早发现伤害并进行适当的评估可为挽救生命的干预提供机会,并防止虐待进一步升级。然而,识别虐待可能具有挑战性。本文将回顾暗示虐待的体格检查结果和损伤,以及身体虐待的评估和处理。
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引用次数: 0
Acute presentation of abusive head trauma 虐待性头部创伤的急性表现
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101135
Luke Hartman, H. Michelle Greene

Child abuse is a major cause of morbidity and mortality in the United States. The leading cause of child physical abuse related deaths is abusive head trauma, formerly known as shaken baby syndrome, making the rapid identification and assessment of these children critical. The clinical presentation of cases of abusive head trauma ranges from neurological complaints, such as seizures, to vague or subtle symptoms, such as vomiting. This results in frequent missed diagnoses of abusive head trauma. The identification of abusive head trauma relies on a thorough medical history and physical examination, followed by lab evaluation and imaging. The goal of the evaluation is to discover further injury and identify possible underlying non-traumatic etiologies of the patient's symptoms. In this article we present a framework for the assessment of abusive head trauma and provide information on common presentations and injuries, as well as differential diagnoses. A strong foundational knowledge of abusive head trauma will lead to greater recognition and improved safety planning for victims of this unfortunate diagnosis.

虐待儿童是美国儿童发病和死亡的主要原因。虐待性头部外伤(以前称为摇晃婴儿综合症)是造成儿童身体虐待相关死亡的主要原因,因此快速识别和评估这些儿童至关重要。虐待性头部外伤病例的临床表现多种多样,既有神经系统症状(如癫痫发作),也有模糊或细微的症状(如呕吐)。这导致虐待性头部外伤的漏诊频频发生。鉴别虐待性头部创伤有赖于全面的病史和体格检查,然后进行实验室评估和影像学检查。评估的目的是发现进一步的损伤,并确定患者症状可能的潜在非创伤性病因。在这篇文章中,我们介绍了评估虐待性头部创伤的框架,并提供了有关常见表现和损伤以及鉴别诊断的信息。掌握有关虐待性头部创伤的扎实基础知识将有助于更好地识别这种不幸的诊断结果,并为受害者制定更好的安全计划。
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引用次数: 0
Seizures, medical child abuse, and the pediatric neurologist 癫痫发作、儿童医疗虐待和儿科神经科医生
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101137
Mica Goulbourne, Catherine M. Huber

Previously known as Munchausen syndrome by proxy, medical child abuse is a form of child maltreatment whereby the caregiver creates an environment in which medical care harms or threatens the wellbeing of a child. Approximately 40-50 % of medical child abuse cases involve neurological symptoms, with fabricated or induced seizures accounting for a significant proportion. Identifying fictitious seizures is often difficult even for the most experienced clinicians. Therefore, having a low threshold for clinical suspicion is essential in the timely diagnosis of medical child abuse. This article provides a review of the epidemiology, diagnosis, and management of medical child abuse when it involves seizures.

医疗儿童虐待以前被称为代理孟乔森综合症,是一种虐待儿童的形式,在这种形式中,看护者创造了一种医疗护理伤害或威胁儿童健康的环境。大约 40-50% 的医疗虐童案件涉及神经系统症状,其中编造或诱导癫痫发作占了很大比例。即使是最有经验的临床医生也往往难以识别虚构的癫痫发作。因此,临床怀疑阈值较低对及时诊断医疗虐童至关重要。本文综述了涉及癫痫发作的医疗性儿童虐待的流行病学、诊断和处理方法。
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引用次数: 0
期刊
Seminars in Pediatric Neurology
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