Sturge Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality A gene abnormality that occurs as a new event ('de novo') during cell division in the individual after his/her conception. The gene abnormality is therefore not inherited from the individual's parents. The stage of embryogenesis, or later life, when the gene abnormality occurs determines which tissues in the mature individual, and in what percentage of cells in those tissues, the gene abnormality will be found. An acquired somatic gene abnormality, is one that does not affect the individuals egg/sperm cells, and therefore cannot be passed on to his/her offspring. resulting in a gain of function in the GNAQ gene, in progenitor vascular cells.
Seizures are seen in 75-90% of patients, usually commencing under 12 months of age. Patients with Sturge Weber syndrome are at risk of stroke, due to impaired venous drainage caused by leptomeningeal angiomas. Risk of stroke is increased by prolonged seizures or status epilepticus. Communicating hydrocephalus may occur from increased venous pressure. Headache is common. Bilateral or lower facial port wine stain can occur, seen in 15% of patients.
CAUTION developmental and cognitive outcome is worse in children with uncontrolled seizures in early life, especially if epileptic spasms or generalized seizure types appear, therefore proactive seizure control is important, this may include epilepsy surgery, if seizures are not controlled with medication.