Clinics
Phenotype and clinics
Sturge Weber Syndrome is a congenital condition characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and parietal lobes. The anomaly can affect both cerebral hemispheres.An ipsilateral facial cutaneous capillary vascular malformation usually affects the upper face in the V1 distribution of the trigeminal nerve.Other findings include glaucoma, buphthalmos, enlargement of the choriod plexus and seizures.Hemiparesis, hemiatrophy, hemianopia and strokelike events may occur contralateral to the cortical abnormality.Venous stasis results in ischemia underlying the leptomeningeal angiomatosis leading to calcification and laminar cortical necrosis.Neoplastic risk
For any infant with a facial port-wine stain, the risk of Sturge-Weber syndrome with associated angiomatosis of the leptomeninges or vessels of the eye is approximately 10%. The risk increases to 25% when the entire side of the face is involved and 33% when both sides of the face are affected by port-wine stain.Bony and soft tissue hypertrophy can develop with structures underlying the port-wine stain.Reports exist of tumors found in association with Sturge-Weber syndrome; however it is unclear whether Sturge-Weber syndrome is associated with an increased risk of other neoplasms.Treatment
Treatment is symptomatic and focuses on seizure control with antiepileptics or surgery, symptomatic and prophylactic migraine management, glaucoma treatment to reduce intraocular pressure and laser therapy for facial cutaneous vascular malformation.Anecdotal aspirin use is used when children have strokelike episodes.Evolution
75-90% of children with SWS develop partial seizures by 3 years of age.50-75% of children have developmental delay or mental retardation.Possible complications include status epilepticus, prolonged strokelike episodes, hearing disorder, intractable headaches.Glaucoma develops in 30-70% of individuals, and this along with visual field cuts can result in vision loss.Neurologic deterioration in SWS is likely secondary to impaired blood flow to the brain and is worsened by seizures.Prognosis
The prognosis for SWS patients is highly variable. Some children are minimally affected, if at all. Others have early onset seizures, numerous strokelike episodes and neurologic deterioration with hemiparesis and mental retardation.Life expectancy is thought to be normal. 
