Index
Definition:
Sturge-Weber syndrome is a congenital vascular disorder characterized by a port-wine stain, leptomeningeal angioma, and neurological complications (seizures, focal neurological deficits, and intellectual disability).
The syndrome occurs in 1 in 50,000 people. It causes a port wine stain (sometimes called a stain or birthmark), usually on the forehead and upper eyelid.
A leptomeningeal angioma occurs in 90% of patients when the spot from Porto involves upper and lower eyelids on one side, but only 10% to 20% when only one of the eyelids is affected.
In general, leptomeningeal angiomas are unilateral, but patients have a bilateral port-wine stain in rare cases.
Neurological complications include seizures, focal neurological deficits (e.g., hemiparesis), and intellectual disability.
The disorder can also cause glaucoma and vascular narrowing, increasing the risk of vascular events (strokes, thrombosis, venous occlusion, and heart attacks).
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, chromosome 9q21.
Symptoms and signs
Port-wine stains can vary in size and color, ranging from light pink to deep purple. Seizures occur in approximately 75% to 90% of patients within one year.
Seizures are usually focal but may become generalized. Hemiparesis on the side opposite the spots from Oporto occurs in 25% to 50% of patients.
Sometimes, hemiparesis worsens, especially in patients whose seizures can not be controlled. About 50% of patients have intellectual disabilities and some learning difficulties. The development may be delayed.
Glaucoma may be present at birth or develop later. The eyeball may increase in size and protrude out of its orbit (buphthalmos).
Diagnosis
The diagnosis is used to check for a leptomeningeal angioma; in adolescents and adults. The calcifications are visualized as parallel paths or in the “rail of the train” in x-rays of the skull, as mentioned in the ancient literature, developed during adulthood.
The neurological examination is done to check for neurological complications.
Treatment of Sturge-Weber Syndrome
The treatment focuses on the symptoms. Anticonvulsants and medications are used to treat glaucoma. Sometimes the hemispherectomy is done if the patients have intractable seizures.
