A rare congenital neurological and skin disorder characterized by port-wine stains of the face, glaucoma, seizures, mental retardation and cerebral malformations and tumour. Blood vessels on the brain surface are abnormal.
Cause(s) :
Embryonal developmental anomaly
Symptoms :
Port-wine stain on the forehead and upper eyelid of one side of the face or the whole face
Seizures, usually on the body opposite to the port-wine stain or birthmark
Some children have developmental delays and cognitive delays
Glaucoma
Increased pressure within the eye can cause the eyeball to enlarge and bulge out of the socket
Diagnosis and Tests :
Newborn with a facial port-wine birthmark
Birthmark associated with brain or eye involvement
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