Sturge-Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder.

Sturge-Weber is an embryonal developmental anomaly resulting from errors in fetal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically and is not hereditary.

It is indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.

Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark.

Neurological symptoms 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 be muscle weakness on the same side
• Developmental delays and mental retardation
• Glaucoma – increased pressure within the eye (at birth or developing later)

The 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.

Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Doctors recommend yearly monitoring for glaucoma. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays.