Variation in neuroimaging and outcomes in patients with SWS type III

OBJECTIVES: Sturge-Weber Syndrome (SWS) is a life-long neurovascular condition present in roughly one out of every 20,000 live births. SWS Types I and II involve cutaneous and ophthalmological findings, in addition to neurological involvement in Type I, whereas Type III is exclusive to brain stigmata. Our study aims to describe the characteristics of brain MRI findings in patients with SWS Type III. We hypothesize that SWS Type III has a unique radiological phenotype and resultant different clinical manifestations. We will correlate neuroradiological features with seizure and cognitive outcomes in eleven patients with SWS Type III. METHODS: This is a retrospective case series examining the clinical, radiological and cognitive characteristics of patients referred to the Comprehensive SWS Clinic at Boston Children’s Hospital with a diagnosis of SWS Type III. We analyzed MRI findings based on vascular and brain parenchymal features. The clinical and cognitive outcomes were based on a validated assessment tool in this population (Neuroscore). RESULTS: This is the largest case series of patients with Type III SWS from a single center. Eleven patients were identified. Stroke-like events and atypical headaches are likely to occur in conjunction predominantly with deep venous anomalies, whereas seizures are likely to be associated with brain parenchymal abnormalities such as atrophy and calcifications. CONCLUSIONS: Preliminary results indicated that predominant imaging features can predict neurological outcomes.