Delayed Diagnosis of Sturge–Weber Syndrome: A Case Report

Abstract

Sturge–Weber syndrome type I (SWS-I) is the predominant variant of SWS, characterised by leptomeningeal angiomatosis, port-wine stain (PWS), cortical calcifications and occasionally ophthalmological symptoms. This index case is that of a 29-year-old female with a facial PWS who has had recurrent generalised tonic–clonic seizures. She has also had stroke-like symptoms presenting as left hemiparesis. These symptoms have been present since childhood; she never sought hospital treatment because her family attributed her ailment to a ‘spiritual attack’, meaning spiritual forces influenced her bodily manifestations. Computed tomography and magnetic resonance imaging of the brain demonstrated distinctive features of right cerebral hemiatrophy, right gyriform calcifications, ipsilateral choroid plexus enlargement, leptomeningeal enhancement and asymmetrically enlarged frontal sinus. These distinctive radiological and clinical findings recently led to the diagnosis of SWS-I. She is on anticonvulsant medications, and her seizures are now controlled. This case underscores the delayed hospital presentation due to inadequate awareness, thus leading to a delayed diagnosis. It also emphasises the essential significance of neuroimaging in identifying SWS-I. Identifying distinct radiological patterns is crucial for prompt diagnosis, effective therapy and follow-up.