Atypical imaging features of sturge-weber syndrome in a 10-month-old infant: A case report

Abstract

Sturge-Weber Syndrome (SWS) is a rare, non-inherited neurocutaneous disorder characterized by facial capillary malformations, leptomeningeal angiomatosis, and ocular abnormalities such as glaucoma. While its hallmark imaging findings are well-documented, atypical presentations, especially in early infancy, remain underreported. This case report describes a 10-month-old male infant with a rare and severe presentation of SWS. The patient exhibited hallmark features, including a port-wine stain, glaucoma, and leptomeningeal enhancement, alongside atypical imaging findings such as diffuse bilateral cerebral atrophy, asymmetric pial angiomatosis, bilateral choroid plexus enlargement, and tortuous perimedullary veins. Neurological symptoms included recurrent tonic-clonic seizures starting within the first year of life, alongside persistent ophthalmologic complications. Advanced imaging played a pivotal role in identifying these unusual features, underscoring the variability in SWS presentations and the need for comprehensive neuroimaging in young patients. This report highlights the importance of early diagnosis, multidisciplinary management, and vigilant follow-up to address the diverse challenges posed by SWS, while expanding the documented spectrum of its manifestations.