Sturge-Weber syndrome better predicted by novel vascular classification of facial port-wine stains

The classical description of Sturge–Weber syndrome (SWS) isfacial port-wine stain (PWS) in the V1 distribution of the tri-geminal nerve, ipsilateral cerebral vascular malformation andocular vascular malformation. Bilateral, V1 or upper eyelid distributions are thought to be associated with a higher risk of SWS. Records of 194 children with a facial PWS seen sequentially in 2011–13 were reviewed. Mean age at the time of analysis was 8.3 years (SEM 0.4) with 798 years of patient follow-up. PWS were classified by the traditional trigeminal distribution, but due to initial results a new classification was developed based on the vascular supply of the face. Adverse outcome measures were clinical (seizures, abnormal development, glaucoma) and radiological [abnormal magnetic reso-nance image (MRI)]. Analysis was by multivariate logistic regression. Strikingly, there was no significant association between the V1 distribution and an abnormal MRI. In contrast, a newly identified ‘frontotemporal’ area was affected in every patient with any adverse clinical outcomes, making this the most useful clinical feature for management. Interestingly,abnormal MRI was a better predictor of all outcomes thanphenotyping [odds ratio (95% confidence interval) for seizures 61.2(7.5–497.0; P < 0.001), developmental abnormalities 112 (13.5–931.0; P < 0.001) and glaucoma 8.6 (2.8–26.8; P < 0.001)], but for practical reasons guidelines based on clinical phenotyping are proposed. In conclusion, facial PWS appear to follow the embryonic vasculature of the face,not the trigeminal nerve. All children with ‘frontotemporal’ and/or bilateral PWS should have an ophthalmology review,brain MRI and electroencephalography. Those with an abnormal MRI should have neurodevelopmental and ophthalmological follow-up.