Diagnosis of Sturge-Weber Syndrome

Vascular birthmarks are caused by larger-than-normal blood vessels under the skin, and can appear pink or dark, flat or raised, which partially depends on age. Similar abnormalities in brain blood vessels can usually be detected by MRI, and this is the basis for diagnosis of Sturge-Weber brain involvement. When eye involvement occurs, such vessel abnormalities in and around the eye can cause increased eye pressure, which may lead to glaucoma.

Many patients diagnosed with Sturge-Weber have a combination of two or more of these skin, eye, and brain criteria. A few patients only have brain involvement, which is called the "isolated intracranial variant of Sturge-Weber syndrome." Those with a suspected diagnosis of Sturge-Weber syndrome should seek neurologic, ophthalmologic, and dermatologic evaluations, which examine the brain, eyes, and skin respectively. These and other evaluations are recommended to confirm a Sturge-Weber diagnosis and to screen for associated complications.