STURGE-WEBER SYNDROME

OVERVIEW

Sturge-Weber syndrome is characterized by angiomas of the face, eye and leptomeninges. It is caused by an acquired somatic gene abnormality resulting in a gain of function in the GNAQ gene, in progenitor vascular cells.

Clinical context

Sturge-Weber syndrome:

• a facial port-wine stain, present at birth, in the distribution of the ophthalmic branch of the trigeminal nerve (this may be absent in 15% of Sturge-Weber syndrome patients);
• leptomeningeal angioma ipsilateral to the side of the port-wine stain, over occipital and posterior parietal regions predominantly, causing ischemia, atrophy and calcification in the affected cortex (resulting in seizures and risk of progressive contralateral hemiparesis and homonymous hemianopia); and
• ocular (choroidal, scleral) angioma (in 30% of patients), causing glaucoma, iris heterochromia, or buphthalmos.

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.