Sturge-Weber syndrome (SWS) is a sporadic congenital neurovascular disorder
– It consists of facial port wine nevus involving the upper part of the face (in the first division of cranial nerve V) and capillary-venous malformations affecting the brain and eye.
-SWS is caused by somatic mosaic mutations in the GNAQ gene.
-It is not a heritable disorder.
Symptoms & Signs
Vascular: Port wine stain on one side of the face, (In one-quarter of the cases the nevus is bilateral), leptomeningeal vascular malformation
Neurologic features: Seizures, Focal neurologic deficits, hempiparesis, intellectual disability
Ocular features: Glaucoma, capillary-venous vascular malformations of the conjunctiva, episclera, choroid, and retina
Visual features: Homonymous hemianopia
Plain Skull X rays: Cortical double-contoured calcifications “tramline” calcifications
CT, MRI brain: Cortical atrophy
EEG: depression of voltage over the involved area in early stages
No specific, effective treatment exists for SWS.
Port wine stains: Selective photothermolysis
Choroidal hemangioma: laser photocoagulation or radiotherapy
Glaucoma: Medications, surgery