STURGE-WEBER SYNDROME

Sturge-Weber Syndrome (or disease) is a congenital vascular malformation affecting the head, face, and brain. The primary process appears to be faulty development of the venous drainage for the cerebral capillary bed. A similar process affects the skin, eye, and the soft-tissues of the head. Development of the brain usually proceeds to a normal size, but after birth, there is progressive atrophy of the affected hemisphere(s). The disease is usually unilateral, but bilateral cases can occur. Typically the patient presents at birth with a "Port Wine Nevus" - a reddish-brown or pink discoloration of the face, often following the distribution of the trigeminal nerve. Intracranially, ipsilateral to the facial nevus, there is abnormal circulation that leads to 1) cerebral dysfunction; 2) electrical instability (seizures); and 3) cerebral cortical atrophy. Seizures usually present within the first two years of life. Typically the occipital lobes are affected first, and most severely, but the disease may also involve the parietal and temporal lobes, and (rarely) the frontal lobe.

Return to the Case of the Week