How is Sturge-Weber syndrome diagnosed?
The diagnosis of SWS depends on numerous factors. One of these is a facial port-wine birthmark, a type of vascular birthmark. Vascular birthmarks are caused by abnormally large blood vessels under the skin and can appear either pink or dark, flat or raised, depending on age. Similar abnormalities in brain blood vessels can typically be detected by MRI, which is the basis for diagnosing SWS brain involvement. Vessel abnormalities in and around the eye can lead to eye involvement as well, leading to increased eye pressure and potentially glaucoma. Many patients diagnosed with SWS have a combination of two or more of these skin, brain and eye criteria. A few patients only have brain involvement, which is known as the “isolated intracranial variant of SWS.”
Those with a suspected diagnosis of SWS should seek neurologic, dermatologic and ophthalmologic evaluations to exam the brain, skin and eyes, respectively. These and other evaluations are recommended to confirm a SWS diagnosis and to screen for associated complications.
Many infants with port-wine birthmarks are seen by Dr. Comi each year to help in guiding the evaluations for diagnosis. To schedule a visit, please call 443-923-9569 or request an appointment here.