sturge–weber syndrome sturge–weber syndrome sturge–weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. it is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors). sturge–weber syndrome can be classified into three different types. type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. normally, only one side of the brain is affected. this type is the most common. type 2 involvement includes a facial angioma (port wine stain) with a possibility of glaucoma developing. there is no evidence of brain involvement. symptoms can show at any time beyond the initial diagnosis of the facial angioma. the symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. more research is needed on this type of sturge–weber syndrome. type 3 has leptomeningeal angioma involvement exclusively. the facial angioma is absent and glaucoma rarely occurs. this type is only diagnosed via brain scan. sturge–weber syndromeother namessturge–weber–krabbe diseasect scan of sturge-weber syndromespecialtymedical genetics sturge–weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. unlike other neurocutaneous disorders (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. imaging findings may include tram track calcifications on ct, pial angiomatosis, and hemicerebral atrophy. signs and symptoms port wine stains of an 8-year-old female with sturge-weber syndrome dilated bulbar vessels in sturge–weber syndrome sturge–weber syndrome is usually manifested at birth by a port-wine stain on the forehead and upper eyelid of one side of the face, or the whole face. the birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve, just under the surface of the face. there is also malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark. this causes calcification of tissue and loss of nerve cells in the cerebral cortex. neurological signs include seizures that begin in infancy and may worsen with age. convulsions usually happen on the side of the body opposite the birthmark, and vary in severity. there may also be muscle weakness on the side of the body opposite the birthmark. some children will have developmental delays and cognitive delays; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), which can be present at birth or develop later. glaucoma can be expressed as leukocoria, which should suggest further evaluation for retinoblastoma. increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). sturge–weber syndrome rarely affects other body organs. presentation seizures 75–90% vascular headache 40–60% developmental (cognitive) delay 50–70% glaucoma 30–70% hemianopsia 40–45% hemiparesis 25–60% cause the blood vessel formations associated with sws start in the fetal stage. around the sixth week of development, a network of nerves develops around the area that will become a baby's head. normally, this network goes away in the ninth week of development. in babies with sws due to mutation of gene gnaq, this network of nerves doesn't go away. this reduces the amount of oxygen and blood flowing to the brain, which can affect brain tissue development. diagnosis