Seminars in Pediatric Neurology最新文献_第2页

PHACE syndrome: A review PHACE 综合征：综述。

IF 2.4 4区医学

Seminars in Pediatric Neurology Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101152

Louisa Keith

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

Seminars in Pediatric Neurology Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101157

Leah Ferrante, Chelsey Ortman

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

Seminars in Pediatric Neurology Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101151

Emily Lynn Ramirez , Kristina Jülich

{"title":"Sturge-Weber syndrome: an overview of history, genetics, clinical manifestations, and management.","authors":"Emily Lynn Ramirez , Kristina Jülich","doi":"10.1016/j.spen.2024.101151","DOIUrl":"10.1016/j.spen.2024.101151","url":null,"abstract":"<div><div>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 <em>GNAQ</em> 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.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"51 ","pages":"Article 101151"},"PeriodicalIF":2.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Seminars in Pediatric Neurology Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101153

Jennifer Ruth

{"title":"Congenital melanocytic nevus syndrome: An association between congenital melanocytic nevi and neurological abnormalities","authors":"Jennifer Ruth","doi":"10.1016/j.spen.2024.101153","DOIUrl":"10.1016/j.spen.2024.101153","url":null,"abstract":"<div><div>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 (<em>NRAS)</em> 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.</div></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"51 ","pages":"Article 101153"},"PeriodicalIF":2.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Seminars in Pediatric Neurology Pub Date : 2024-10-01 DOI: 10.1016/j.spen.2024.101154

George Zakhary , Margie Ream

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

Seminars in Pediatric Neurology Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101140

Katherine W. Canty , Abigail Keogh , Joanne Rispoli

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

Seminars in Pediatric 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

{"title":"Young people in foster care and substance use","authors":"Megan Radenhausen , Jacqueline Unkrich , Sarah J. Beal , Shauna Acquavita , Mary V. Greiner","doi":"10.1016/j.spen.2024.101136","DOIUrl":"10.1016/j.spen.2024.101136","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":49284,"journal":{"name":"Seminars in Pediatric Neurology","volume":"50 ","pages":"Article 101136"},"PeriodicalIF":2.4,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141275746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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

Seminars in Pediatric Neurology Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101138

Nara Cho , Ajay S. Koti

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

Seminars in Pediatric Neurology Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101135

Luke Hartman, H. Michelle Greene

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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

Seminars in Pediatric Neurology Pub Date : 2024-07-01 DOI: 10.1016/j.spen.2024.101137

Mica Goulbourne, Catherine M. Huber

引用次数: 0