Introduction of a Brain MRI Scoring System with Clinical Relevance for Sturge-Weber Syndrome

Sturge-Weber syndrome (SWS) is a sporadic neurocutaneous disorder marked by cerebral venous abnormalities, progressive parenchymal damage, and early-onset neuro-cognitive complications. Existing imaging assessments lack standardized, quantitative approaches to capture the full disease burden. Here we tested an magnetic resonance imaging (MRI)-based scoring system that comprehensively captures both vascular and parenchymal brain abnormalities in SWS.

Twenty-five young patients (mean age, 9.5 years; range, 1-24 years) with unilateral SWS brain involvement underwent 3 T MRI using a standardized protocol (with pre- and post-contrast sequences) and formal neuro-cognitive evaluation. Six imaging features, four vascular and two parenchymal, were scored by two investigators across lobes using a 3-point scale. Interrater reliability was assessed using intra-class correlation coefficients (ICC), and associations with neuro-cognitive variables were tested using Spearman's rank correlations.

Both the total MRI score and each MRI subscore demonstrated excellent interrater reliability (ICC range: 0.91-0.99). Motor functions showed strong inverse correlations with the total MRI scores (ρ = -0.82, p < 0.0001). Low verbal IQ correlated with extensive calcifications (ρ = -0.55, p < 0.01). High seizure frequency correlated with greater pial enhancement (p < 0.05) and choroid plexus scores (p < 0.01). The new multiparametric score outperformed a previously established asymmetry-based MRI score in its associations with cognitive outcomes and seizure frequency.

This reliable and user-friendly MRI scoring system, that integrates multiple vascular and parenchymal features relevant to SWS pathophysiology, can be highly suitable for longitudinal monitoring, prognostication, and standardized outcome assessment in multicenter research and therapeutic trials.