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 neurocutaneous disorder with variable central nervous system involvement resulting in neurologic manifestations including seizure, developmental delay, and mental retardation. Neuroimaging is important in establishing intracranial involvement by demonstrating parenchymal atrophy, cortical calcification, and leptomeningeal enhancement reflective of pial angiomatosis --- the hallmark of SWS. By incorporating advanced MR techniques including susceptibility weighted MR venography (SWI), contrast enhanced MR perfusion imaging (MRPI), and proton MR spectroscopic imaging (MRSI), we intend to investigate the morphologic, as well as functional abnormalities in SWS patients at various stages of disease. These findings will be correlated with clinical status established by neurological exam and assessment of seizure activity. As a pilot study, a cross-section of 20 subjects with clinically established SWS will be recruited. We will test the hypothesis that these noninvasive imaging techniques add diagnostic power and also provide a quantitative assessment of disease severity.
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