Other syndromes: Sturge-Weber syndrome

Abstract

Sturge-Weber syndrome is a rare neurocutaneous syndrome (phakomatosis) due to a somatic activating mutation in GNAQ (guanine nucleotide binding protein [G protein], q polypeptide). Evaluation reveals a facial port-wine stain (nevus flammeus), ipsilateral ocular pathology (i.e., glaucoma [30–70 %] and choroidal hemangioma), and leptomeningeal angioma. Complications can arise including glaucoma, seizures, and hypothalamic-pituitary dysfunction. Perceived quality of life can be reduced for those with a disfiguring facial port-wine stain and behavioral difficulties are particularly seen in those with seizures.