ABSTRACT
Sturge-Weber syndrome (SWS) is the third most common neurocutaneous disorder but unlike neurofibromatosis or tuberous sclerosis, it is sporadic. Although clinical and imaging features are heterogeneous, there is typically the presence of a facial port-wine stain, in the ophthalmic distribution of the trigeminal nerve, glaucoma and vascular eye abnormalities, and a parieto-occipital leptomeningeal angioma ipsilateral to the cutaneous and ocular anomalies. Somatic mutation has been proposed as a possible etiology, however the putative gene(s) is unknown.
