Sturge-weber syndrome

A dark red mark on the skin above the eye, together with similar marks inside the brain, possibly causing epileptic fits.


Sturge-Weber syndrome is a rare, congenital, and progressive condition that affects the blood vessels in the skin and the brain. Characteristically, a large pink to purple hemangioma (a birthmark caused by abnormal distribution of blood vessels) extends over one side of the face, including the eye and neck, and is often disfiguring when there is a growth of connective tissue. The facial angioma is usually unilateral but may extend to the other side and conforms largely but not strictly to trigeminal nerve subdivisions. A similar malformation of blood vessels in the brain may cause some degree of weak-ness on the opposite side of the body, glaucoma, and epilepsy. This condition develops during embryonic development.


A congenital disease characterized by a port-wine stain that follows the distribution of the trigeminal nerve of the face in association with vascular malformations in the eye and brain. Sturge-Weber syndrome may lead to calcification of the cerebral cortex, seizures, glaucoma, or optic atrophy. There is no known cure. Treatment of symptoms includes antiseizure medications and treatment of glaucoma.


A congenital neurocutaneous syndrome (technically a “phocomatosis”) marked by port-wine nevi along the distribution of the trigeminal nerve, angiomas of leptomeninges and choroid, intracranial calcifications, mental retardation, seizures, and glaucoma.


An uncommon condition present from birth, impacting both the skin and the brain, characterized by unusual distribution of blood vessels. Usually, a sizable, purplish birthmark (known as a port wine stain) spans across one side of the face, encompassing the eye. Abnormalities in the blood vessels within the brain can result in weakness on one side of the body, gradual challenges in learning, and the occurrence of epilepsy. Additionally, glaucoma might arise in the affected eye, potentially leading to vision impairment.


Anticonvulsant medications generally prove effective in managing seizures. Nevertheless, for instances of this syndrome that are more severe, surgical intervention on the brain might be required.


 


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