Predictive Value of Size of Port-Wine Stains in Sturge-Weber Syndrome (S35.007)

OBJECTIVE: To investigate whether size of facial birthmarks in patients with Sturge-Weber Syndrome (SWS) correlates with the degree of central nervous system involvement by neuroimaging and clinical neurological exam. BACKGROUND: SWS is typically defined by the presence of a facial port-wine stain accompanied by neurologic involvement and/or glaucoma. The neurologic sequelae of SWS can have the biggest impact on patient's daily function and quality of life. It is currently unknown, however, whether the extent of birthmark is predicative of intracranial involvement and therefore clinical disability. DESIGN/METHODS: 51 SWS patients (53[percnt] male) with facial birthmarks and brain abnormalities documented on MRI were included. A pediatric neurologist prospectively assigned previously validated clinical severity scores based on seizures, hemiparesis, visual field cut and cognitive impairments. Three raters, blinded to clinical scores, independently graded the extent of facial birthmark in each patient ([percnt] affected of each hemifacial distribution of the three branches of trigeminal nerve) based on photographs taken before any laser treatments. Their scores were then averaged. A neuroradiologist, blinded to all clinical information, assigned a neuroimaging score based on previously established criteria of intracranial involvement in SWS. Birthmark scores were correlated with the imaging and neurological severity results using nonparametric correlation analysis. RESULTS: MRI scores for each hemisphere were positively correlated with their respective hemifacial birthmark extent (Spearman's correlation coefficient, left: ρ=0.54, p<0.001; right: ρ=0.67, p<0.001). Clinical severity scores were similarly associated with the overall facial extent of port-wine stains in patients over the age of 6 (n=21, ρ=0.46, p<0.05). In particular, the degree of cognitive impairment was significantly correlated with the skin score (n=21, ρ=0.56, p<0.01). CONCLUSIONS: The extent of facial port-wine stains in SWS can serve as a useful predictor of the degree of brain abnormality and clinical severity.