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All Diseases > Sturge-Weber Syndrome
Sturge-Weber Syndrome (SWS)
Alternative Names: Leptomeningeal Angiomatosis; Sturge-Weber-Krabbe Syndrome; Sturge-Weber-Dimitri Syndrome; Phakomatosis, Sturge-Weber; Neuroretinoangiomatosis; Meningofacial Angiomatosis-Cerebral Calcification Syndrome; Meningo-oculo-facial Angiomatosis; Encephalofacial Hemangiomatosis Syndrome; Encephalofacial Hemangiomatosis; Angiomatosis Aculoorbital-Thalamic Syndrome
Disease Category: Brain Vascular Malformations
A condition resulting in abnormal blood vessel development in the brain, eyes, and skin before birth. Hallmark features are a port-wine birthmark (a red, pink, or purple facial birthmark), leptomeningeal angiomas (blood vessel abnormalities between the two tissue layers covering the brain), and glaucoma (increased eye pressure). Symptoms include migraines, seizures, vision problems, and hemiparesis (temporary one-sided muscle weakness).
Research groups studying this disease
Brain Vascular Malformations
6211: Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome
The objective is to integrate longitudinal clinical data, radiological data, and blood biomarkers of SWS patients to identify those at most risk to have severe neurological symptoms and to identify potential treatments (Aim 1). We will identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes that may indicate disease progression and correlate with severe neurological symptoms (Aim 2). Finally, for enrolled patients who present with severe neurological symptoms blood samples will be screened for inflammatory changes by comparing plasma collected at baseline, during, and after the severe symptoms to identify predictive biomarkers for clinical trials (Aim 3).