Sturge–Weber syndrome

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare type of phakomatosis, a congenital disorder that affects the central nervous system, skin, and eyes. It is often associated with port-wine stains of the face. Clinical manifestations include glaucoma, choroidal lesions, seizures, intellectual disability, and benign tumors of the blood vessels of the leptomeninges. Sturge–Weber originates from embryonic development, resulting from errors in mesodermal and ectodermal development. Unlike other phakomatoses, Sturge–Weber occurs sporadically (i.e., does not have a hereditary cause). It is caused by a mosaic, somatic activating mutation occurring in the GNAQ gene. Diagnosis is usually done through imaging; findings may include tram track calcifications in the cerebral cortex on a CT scan, angiomatosis of the pia mater, and hemicerebral atrophy. Managing Sturge–Weber focuses on treating the symptoms as they appear. Around 1 in 50,000 newborns are affected by the disease. It was originally described in 1879 by William Allen Sturge.