Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS. Methods:The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites.Results: Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures. Conclusion:The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed.

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BACKGROUND The reproducibility of transcranial Doppler (TCD) ultrasound measurements in Sturge-Weber syndrome (SWS) and TCD’s ability to predict neurologic progression is unknown. METHODS In fourteen SWS patients, TCD measured mean flow velocity, pulsatility index, peak systolic velocity (PSV), and end diastolic velocity (EDV) in the middle (MCA), posterior (PCA) and anterior cerebral arteries (ACA) of the affected and unaffected hemisphere. TCD was performed either once (n=5) or twice in one day (n=9). We assessed the reproducibility of the measurements performed twice on the same day on subjects and compared the TCD measurements to previously published age-matched controls. Clinically obtained neuroimaging was scored for extent and severity of SWS brain involvement. Patients were prospectively assigned SWS neuroscores. RESULTS MCA velocity (r=0.79, p=0.04, n=7), PCA velocity (r=0.90, p=0.04, n=5), and ACA pulsatility index (r=0.82, p=0.02, n=7) were reproducible TCD measurements comparing same-day percent side-to-side differences. In subjects with SWS, affected and unaffected mean PSV and EDV velocities in the MCA, PCA, and ACA were globally lower compared to age-matched controls. Subjects with the lowest affected MCA velocity had the greatest worsening in total neurologic score between time 1 and 2 (r=−0.73, p=0.04, n=8) and the most severe MRI involvement of the affected frontal lobe (r=−0.82, p=0.007, n=9). CONCLUSIONS TCD is suggested as a reliable measure with potential clinical value, indicating blood flow may be globally decreased in SWS patients with unilateral brain involvement.