[Sturge-Weber syndrome: comparative analysis between clinical manifestations and neuro-radiological findings].
In a retrospective cohort of 22 children and adolescents with Sturge-Weber syndrome, bilateral leptomeningeal angioma, calcifications, and infratentorial involvement on MRI were associated with more severe neurologic manifestations, including earlier or drug-resistant epilepsy and cognitive impairment.
Open original publication →What the AI sees
In a retrospective cohort of 22 children and adolescents with Sturge-Weber syndrome, bilateral leptomeningeal angioma, calcifications, and infratentorial involvement on MRI were associated with more severe neurologic manifestations, including earlier or drug-resistant epilepsy and cognitive impairment.
Research significance
The reported evidence supports MRI features as potential prognostic or risk-stratification markers; it may be inferred that patients with bilateral, calcified, or infratentorial disease could benefit from closer neurologic surveillance or earlier treatment evaluation, but the study does not test any therapeutic intervention or show improved outcomes from such a strategy.
Source 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.