A Case of Previously Undiagnosed Sturge-Weber Syndrome in an African American Patient due to a Missed Port-Wine Stain.

Abstract

Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous disorder characterized by the triad of facial capillary malformations, ocular abnormalities, and leptomeningeal angiomatosis which can lead to neurological manifestations such as seizures, intellectual disability, and stroke-like episodes. This case report describes a 45-year-old African American female who presented with status epilepticus and stroke-like symptoms, ultimately diagnosed with SWS based on characteristic imaging findings, with an apparent previously missed port-wine stain. This case highlights the diagnostic and management challenges of SWS in adulthood, particularly in African American patients, where the characteristic cutaneous features may be less apparent. The patient's presentation with status epilepticus and acute infarct underscores the fluctuating or episodic neurologic nature of SWS and the need for prompt diagnosis and management.