Sturge-Weber syndrome (SWS) is a congenital disorder caused by the persistence of the transitory primordial sinusoidal plexus stage of vessel development.
SWS is usually sporadic and characterized by a vascular malformation, with capillary and/or venous malformation that involve the face, choroid of the eye, and leptomeninges. The facial vascular malformation has a predilection for the distribution of the first division of the trigeminal nerve. In addition to the vascular meningeal malformation, an underlying atrophy of the cerebral hemisphere is often present.
CT is more sensitive then plain skull radiography and MRI in the detection subcortical calcifications. However MRI with contrast is probably the best imaging test. It is superior to CT in the demonstration of abnormal myelination, and it is more sensitive in the demonstration of leptomeningeal enhancement, particularly in the presence of dense cortical calcification on CT scans.
About 80% of affected persons have focal seizures involving the side contralateral to the nevus, usually in their first year of life; contralateral hemiplegia; homonymous hemianopia; cortical blindness; contralateral atrophy of limbs; and/or a contralateral hemisensory deficit.