Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary
venous malformations in the brain presenting with various neurological, ophthalmic,
and cognitive symptoms of variable severity. This clinical variability makes accurate
prognosis difficult. We hypothesized that the greater extent of physical factors (extent
of skin, eye, and brain involvement), presence of possible genetic factors (gender
and family history), and age of seizure onset may be associated with greater symptom
severity and need for surgery in patients with SWS. The questionnaire was collected
from 277 participants (age: two months to 66 years) with SWS brain involvement at
seven US sites. Bilateral brain involvement was associated with both learning disorder
and intellectual disability, whereas port-wine birthmark extent was associated with
epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history
of vascular birthmarks were also more likely to report symptomatic strokes, and family
history of seizures was associated with earlier seizure onset. Learning disorder,
intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual
field deficit, and brain surgery were all significantly associated with earlier onset
of seizures. The extent of brain and skin involvement in SWS, as well as the age of
seizure onset, affect prognosis. Other genetic factors, particularly variants involved
in vascular development and epilepsy, may also contribute to neurological prognosis,
and further study is needed.