Sturge–Weber syndrome: Updates in pathogenesis, diagnosis, and treatment

Abstract

Objectives: We summarize the current knowledge of Sturge-Weber syndrome (SWS) including genetic involvement, difficulties in diagnosis, symptoms caused by the vascular malformations, treatments, and future areas of research. Methods: PubMed searches were completed between October and December of 2022 including the following search terms: Sturge-Weber neuroimaging, Sturge-Weber ocular involvement, Sturge-Weber G-protein alpha q subunit (GNAQ), Sturge-Weber presymptomatic treatment, and Sturge-Weber quantitative EEG. Clinically relevant articles and case reports were reviewed and summarized, with emphasis placed on reports from the last 20 years. Results: Literature suggests that early identification of brain involvement is essential for optimal medical care. Infants with a port-wine birthmark on the forehead, temple, or eyelids are at risk for SWS brain and eye involvement. Neuroimaging findings include leptomeningeal enhancements, cortical calcifica-tions, and brain atrophy, and diagnosis requires magnetic resonance imaging with and without contrast. Before 1 year of age, neuroimaging has low sensitivity and may underestimate the extent of involvement; imaging after 1 year of age is needed to exclude brain involvement. The most common underlying cause for SWS is a somatic mosaic mutation in GNAQ. Neurological symptoms include seizures, stroke or stroke-like episodes, headaches, and cognitive deficits. Recommended treatment for SWS brain involvement includes aggressive seizure control with antiepileptic medications; low-dose aspirin is also frequently but not universally utilized. Current literature suggests that children with SWS may benefit from presymptomatic treatment; further study of this approach is ongoing. Conclusions: SWS is a rare neurovascular disorder usually signaled by a facial port-wine birthmark. Early diagnosis and appropriate treatment may improve outcomes.