Encephalotrigeminal angiomatosis

Description

Encephalotrigeminal Angiomatosis, also called Sturge-Weber syndrome, is a congenital disorder characterised by a vascular birthmark and neurological abnormalities. This disorder may include eye and internal organ irregularities.

Symptoms

Symptoms of the disorder, which vary widely among patients, may include eye and internal organ irregularities. The most apparent symptom is a facial birthmark or port wine stain, which is present at birth and usually involves at least one upper eyelid and the forehead.

The stain, varying from light pink to deep purple, is caused by an overabundance of capillaries just beneath the surface of the affected skin. Neurological symptoms include excessive blood vessel growth on the surface of the brain (angiomas).

These angiomas are typically located on the posterior or occipital region of the brain and cause seizures, which often start before one year of age and may worsen with age. The convulsions usually appear on the side of the body opposite the port wine stain and vary in severity.

A weakening or loss of use of the side of the body opposite the port wine stain (hemiparesis) may also develop. Developmental delay of motor and cognitive skills may occur.

Glaucoma (increased pressure within the eye) may be present at birth or develop later. Buphthalmos (enlargement of the coatings of the eye) may also occur in the eye that is affected by the port wine stain. Encephalotrigeminal Angiomatosis rarely affects other body organs.

Prognosis

Sturge-Weber syndrome is not a fatal disorder.

Treatment

Treatment for Encephalotrigeminal Angiomatosis is symptomatic. Laser treatment is available to lighten and/or remove port wine stains.

Anticonvulsant medications may be used to control seizures. Surgery and/or eyedrops may be prescribed to control glaucoma.

Reviewed by Dr Andrew Rose-Innes, Yale University School of Medicine, 2007