Translational advances in Sturge-Weber syndrome: Key points to consider
Avances traslacionales en el Síndrome Sturge-Weber: Puntos claves a considerar
DOI:
https://doi.org/10.22258/hgh.2026.101.281Abstract
Sturge–Weber syndrome illustrates how a cutaneous lesion can anticipate a cerebral and ocular vasculopathy with significant neurocognitive impact. Although it was previously classified among the phakomatoses, it is now better understood as a sporadic somatic neurovasculopathy. Its incidence is low but consistent across population-based studies. Neuroimaging reveals perivascular calcifications, anomalous venous drainage, and atrophy; clinically, seizures, stroke-like episodes, and neurodevelopmental deficits predominate, with a low frequency of tumors.Downloads
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