Medicina (B Aires). 2026 Aug;86 Suppl 3:97-103.
ABSTRACT
INTRODUCTION: Sturge-Weber syndrome is a rare neurocutaneous disorder. The extent of leptomeningeal angioma has been associated with greater neurological severity.
OBJECTIVE: To analyze the correlation between clinical phenotype severity and neuroradiological findings in a cohort of patients with Sturge-Weber syndrome.
METHODS: We conducted a retrospective, descriptive, longitudinal study of patients diagnosed between 2009 and 2024 who underwent contrast-enhanced brain MRI. Clinical variables included epilepsy, stroke-like episodes, status epilepticus, headache, hemiparesis, and academic difficulties. MRI findings (unilateral vs. bilateral angioma; supratentorial vs. supra- and infratentorial involvement) were correlated with clinical features. Statistical analysis was performed using Fisher’s exact test.
RESULTS: Twenty-two patients (3-16 years) were included. Epilepsy occurred in 91%, with a mean onset age of 6.6 months; 64% developed status epilepticus and 27% drug-resistant epilepsy. Among patients with bilateral leptomeningeal angioma, 67% developed drug-resistant epilepsy, with a median onset of 2 months. Stroke-like episodes were observed in 64% and migraine-like headache in 36%. MRI showed unilateral angioma in 86% and bilateral involvement in 13%; 23% had infratentorial extension.
CONCLUSIONS: In our cohort, early-onset epilepsy was highly prevalent. Bilateral leptomeningeal angioma and calcifications were associated with a more severe clinical phenotype, characterized by earlier seizure onset, higher rates of drug resistance, and cognitive impairment. Infratentorial involvement was also associated with increased intellectual disability.
PMID:42659558
