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Sturge-Weber
syndrome is a rare congenital vascular disorder characterized by
a facial port-wine stain, a leptomeningeal angioma, and neurologic
complications (eg, seizures, focal neurologic deficits, intellectual
disability).
Sturge-Weber syndrome causes a port-wine stain typically on the forehead and upper eyelid in the distribution of the 1st or 2nd division of the trigeminal nerve. A leptomeningeal angioma occurs in 90% of patients when the port-wine stain involves upper and lower eyelids on one side but only in 10 to 20% when only one eyelid is affected. Neurologic complications include seizures, focal neurologic deficits (eg, hemiparesis), and intellectual disability. The disorder can also cause glaucoma and vascular malformations, which may increase risk of vascular events (eg, stroke, thrombosis, venous occlusion, infarction). It is not inherited; etiology is unclear.
Types:
There are 3 types:
Symptoms and Signs
The port-wine stain can vary in size and color, ranging from light pink to deep purple.
Seizures occur in about 75 to 90% of patients and typically start by age 1 yr. Seizures are usually focal but can become generalized. Hemiparesis of the side opposite the port-wine stain occurs in 25 to 50 % of patients. About 50% of patients have intellectual disability, and more have some kind of learning difficulty. Development may be delayed.
Glaucoma may be present at birth or develop later. The eyeball may enlarge and bulge out of its socket (buphthalmos).
Diagnosis
Diagnosis is suggested by a characteristic port-wine stain. CT and MRI are used to check for a leptomeningeal angioma. Neurologic examination is done to check for the neurologic complications.
Treatment
Treatment focuses on symptoms. Anticonvulsants and drugs to treat glaucoma are used. Low-dose aspirin is often prescribed to help prevent strokes. Selective photothermolysis can lighten the port-wine stain.
Last full review/revision March 2009 by Margaret C. McBride, MD
Content last modified March 2009
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