Current Therapeutic Options in Sturge Weber Syndrome

Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid “angioma” of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. Patients with Sturge-Weber syndrome brain involvement typically present in infancy with seizures, strokes and stroke-like episodes, and a range of neurological impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eye drops or surgery, and the use of anticonvulsants.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research