A rare presentation of Sturge-Weber syndrome: when a port-wine stain is not the key - case report

Abstract

Sturge-Weber syndrome (SWS) is a sporadic congenital vascular disorder which typically presents with a facial port-wine stain and capillary malformations affecting the brain and eye. We present the case of a 15-month-old boy admitted to the paediatric emergency department with right arm palsy and focal clonic seizure on the right side of the body, without a facial nevus. Brain MRI revealed leptomeningeal angiomatosis suggestive of SWS. Despite the absence of the characteristic facial port-wine stain, diagnosis of SWS remains clinical and must be suspected whenever there are focal seizures associated with focal neurological deficits. In this case report we describe the clinical presentation, imaging findings and management of this rare presentation of SWS. We are reporting this case as few patients have been described in the literature.

Keywords

• Case report. Facial nevus. Focal seizures. Leptomeningeal angiomatosis. Sturge-Weber syndrome.