pediatrics
Sturge Weber Syndrome
Introduction
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). Diagnosis is clinical. Treatment is symptomatic. Sturge-Weber syndrome is a neurocutaneous syndrome that occurs in 1 in 20,000 people ( Reference ). 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 Sturge-Weber syndrome causes a capillary malformation called a port-wine nevus (or sometimes a stain or birth mark) typically on the forehead and upper eyelid in the distribution of the 1st and/or 2nd division of the trigeminal nerve. A similar vascular lesion—leptomeningeal angioma—occurs in 90% of patients when the port-wine nevus involves upper and lower eyelids on one side but occurs in only 10 to 20% of patients 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. A port-wine nevus may occur without a leptomeningeal angioma and its accompanying neurologic signs; in such cases, the eyes and eyelids may or may not be involved. Rarely, a leptomeningeal angioma occurs without the port-wine nevus and ocular involvement. Neurologic complications of Sturge-Weber syndrome include seizures, focal neurologic deficits (eg, hemiparesis), and intellectual disability. Sturge-Weber syndrome can also cause glaucoma and vascular narrowing, which may increase risk of Overview of Stroke due to thrombosis, venous occlusion, or infarction. Often, the involved cerebral hemisphere progressively atrophies. 