PATHOPHYSIOLOGY OF STURGE-WEBER

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 斯特奇-韦伯综合征(SWS)是一种先天性疾病，表现为软脑膜血管瘤、面部鲜红斑点和眼部血管异常。其他特征包括学习、社交和情绪问题的发生率增加，认知和/或发育迟缓，以及生长激素缺乏。先前的研究表明，大脑、皮肤和眼睛中的血管畸形会进展。尽管不同患者的结果差异很大，但临床经验和研究表明，神经状况和视力的恶化。 我们建议通过几项先导性的研究来解决斯特奇-韦伯综合征的病理生理学问题：大脑和眼睛的超声和多普勒检查、眼底镜检查、高凝危险因素的筛选以及斯特奇-韦伯综合征受试者的内分泌功能测试。我们计划将这些测试的结果与临床检查和神经心理测试相关联。我们期望这项初步研究将解决SWS神经恶化的发病机制、这种疾病中高凝状态和内分泌异常的发生率以及这些微创技术作为疾病严重程度标志的有效性等基本问题。

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.