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Sturge-Weber Syndrome

by Margaret C. McBride, MD

Sturge-Weber syndrome is a congenital vascular disorder characterized by a facial port-wine nevus, a leptomeningeal angioma, and neurologic complications (eg, seizures, focal neurologic deficits, intellectual disability).

Sturge-Weber syndrome occurs in 1 in 50,000 people. It causes a port-wine nevus (sometimes called a stain or birth mark) 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 nevus involves upper and lower eyelids on one side but only in 10 to 20% when only one eyelid is affected. Usually, the nevi and leptomeningeal angiomas are unilateral, but rarely, patients have bilateral port-wine nevi in the distribution of the 1st division of the trigeminal nerve and bilateral leptomeningeal angiomas.

Neurologic complications include seizures, focal neurologic deficits (eg, hemiparesis), and intellectual disability. The disorder can also cause glaucoma and vascular narrowing, which may increase risk of vascular events (eg, stroke, thrombosis, venous occlusion, infarction). Often, the involved cerebral hemisphere progressively atrophies.

Sturge-Weber syndrome is not inherited. It is caused by a somatic mutation (a change in DNA that occurs after conception in the precursors of the affected area) in the GNAQ gene on chromosome 9q21.

Symptoms and Signs

The port-wine nevus 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 nevus occurs in 25 to 50% of patients. Sometimes the hemiparesis worsens, especially in patients whose seizures cannot be controlled. 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 nevus. MRI is used to check for a leptomeningeal angioma; in adolescents and adults. If MRI is not available, CT may be done; it may show calcifications in the cortex under the leptomeningeal angioma. The parallel curvilinear railroad-track calcifications seen on skull x-rays as mentioned in older literature develop during adulthood. Neurologic examination is done to check for neurologic complications.

Treatment

Treatment focuses on symptoms. Anticonvulsants and drugs to treat glaucoma are used. Sometimes hemispherectomy is done if patients have intractable seizures. Low-dose aspirin is usually given, starting at the time of diagnosis, to help prevent strokes or lessen the progressive hemispheric atrophy presumably by preventing sludging in the abnormal capillaries. Selective photothermolysis can lighten the port-wine nevus.

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