PATHOPHYSIOLOGY OF STURGE-WEBER

该子项目是利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得主要资金， 因此可以在其他CRISP条目中表示。列出的机构是 中心，不一定是研究者的机构。 Sturge-Weber综合征（SWS）是一种先天性疾病，表现为软脑膜血管瘤、面部葡萄酒色斑和眼部血管异常。 其他特征包括学术，社交和情绪问题，认知和/或发育迟缓以及生长激素缺乏症的发病率增加。 先前的研究表明脑、皮肤和眼睛中血管畸形的进展。 尽管患者的结局差异很大，但临床经验和研究表明神经系统状态和视力恶化。 我们建议通过几项初步研究来探讨Sturge-Weber综合征的病理生理学：脑和眼的超声和多普勒研究、眼底镜检查、高凝风险因素筛查和Sturge-Weber综合征受试者内分泌功能检测。 我们计划将这些测试的结果与临床检查和神经心理学测试相关联。 我们希望这项试点研究将解决有关SWS神经功能恶化的发病机制，高凝状态和内分泌异常在这种疾病中的发病率，以及这些微创技术作为疾病严重程度标志物的有用性的基本问题。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Sturge-Weber syndrome (SWS) is a congenital disorder presenting with leptomeningeal angioma, facial port-wine stain, and vascular abnormalities of the eye. Other features include increased incidence of academic, social, and mood issues, cognitive and/or developmental delays, and growth hormone deficiency. Prior studies suggest progression of the vascular malformations in the brain, skin, and eye. Although outcomes vary widely among patients, clinical experience and research studies evidence worsening of neurologic status and vision. We propose to address the pathophysiology of Sturge-Weber syndrome with several pilot studies: ultrasound and Doppler studies of the brain and eye, funduscopy, screening for hypercoagulability risk factors, and testing of endocrine function in subjects with Sturge-Weber syndrome. We plan to correlate the results of these tests with clinical exams and neuropsychological testing. We expect that this pilot study will address essential questions regarding the pathogenesis of neurologic deterioration in SWS, the incidence of hypercoagulability and endocrine abnormalities in this disorder, and the usefulness of these minimally-invasive techniques as markers for disease severity.