Biomarker Development in Sturge-Weber Syndrome

Sturge-Weber Syndrome (SWS) is a rare disorder presenting at birth with a facial port-wine birthmark and later in infancy with seizures and strokes that result in weakness on one side of the body, cognitive disabilities, glaucoma, and visual field deficits. Approximately 10-50% of infants born with a facial port-wine birthmark on the upper part of the face will also have SWS brain and/or eye involvement. Early detection and treatment of the disease is necessary to improve an SWS patient's outcome, and early biological indicators need to be discovered to make this possible. We believe the following tests can serve as non-invasive biomarkers to improve early diagnosis, monitor response to treatment, and to predict outcome:

• Quantitative EEG
• Transcranial Doppler
• Medical Rehabilitation Scales
• Optical Coherence Tomography The first step of this process is to determine how much the results of these tests vary between individual tests.

Inclusion criteria

• Individuals with SWS and brain involvement (Aims 1-3): for the purposes of this study SWS brain involvement is defined as having shown on MRI imaging evidence of the typical vascular malformation which includes the following: leptomeningeal angioma, choroid plexus glomus, and associated venous angioma/malformation.
• Individuals with SWS and eye involvement (Aim 4): for the purposes of this study SWS eye involvement is defined as individuals with a port-wine birthmark in the V1 dermatomal distribution
• Able (or parents able) to provide informed consent
• Able to cooperate with tests
• Age 6 months to 21 years (Aims 1-3 only)

Exclusion criteria

• Subjects unable to cooperate with the studies will be excluded.