This chapter presents the clinical features, etiology, and treatment of Sturge-Weber syndrome (SWS). SWS is a rare, sporadic, congenital disorder arising from an early developmental lesion affecting the facial skin, the eye, and the central nervous system. The association of neurological and developmental deterioration and the onset of seizures means that patients with SWS often suffer considerable disability. The effect of choroidal or ciliary body hemangioma in SWS interferes with the angle of the eye, causing elevated episcleral venous pressure or hypersecretion of fluid. Epileptic seizures are the predominant symptom of SWS and occur in about 80% of cases presenting port-wine stain (PWS) and leptomeningeal angioma. Magnetic resonance imaging (MRI) should be performed at a distance of a seizure event to avoid false interpretation of gadolinium enhancement, due to contrast leakage because of alteration of the blood-brain barrier.

Sturge-Weber syndrome is characterized by a facial cutaneous nevus (port-wine stain) and a leptomeningeal angioma, often found ipsilateral to the facial lesion. Epileptic seizures, mental retardation, and focal neurological deficits are the primary neurologic abnormalities of Sturge-Weber syndrome. In a series of 52 adults with Sturge-Weber syndrome, 65% had neurologic deficits including stroke, hemiparesis, spasticity, and/or weakness. Neuroimaging, electroencephalography, and functional testing with Positron emission tomography (PET) and Single-photon emission computed tomography (SPECT) may also help to define the extent of the intracranial lesion for possible epilepsy surgery. Although gyral calcification is a classic feature of Sturge-Weber syndrome, this "tram track" appearance is not always present. Bilateral calcification is common. Calcification often becomes more apparent as the patient becomes older but is sometimes already present at birth. Daily aspirin has been tried in an effort to prevent recurrent vascular thrombosis that may cause neurologic deterioration.