Study Questions

1. What are the defining characteristics of Sturge-Weber Syndrome?
2. What are its main signs?

 What is Sturge-Weber Syndrome?

Sturge-Weber syndrome is a congenital neurological disorder thought to be the result of faulty embryologic development of the ectoderm and mesoderm. It occurs in one case out of 230,000 of the general population and consists of: 

• Craniofacial angiomatosis
• Meningeal hemangioma
• Cerebral calcification and cortical atrophy of the adjacent brain tissue

Sturge-Weber syndrome is described on the National Institute of Neurological Disorders and Stroke (NINDS) web site as follows:

"Sturge-Weber syndrome is a neurological disorder 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.  Some children will have developmental delays and mental retardation; most will have 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."

Click here to access the NINDS web site on Sturge-Weber Syndrome. The site has links to several other websites containing images and more detailed information about Sturge-Weber.  

Main Signs 

• Port-wine color naevus flammeus of the face, located along the course of the superior and middle branches of the trigeminal nerve:
  • Mostly unilateral, sharply outlined medially, but
  • It can be bilateral or medial
• Focal or generalized cerebral seizures in about 80% of cases
• Contralateral hemiplegia in 30% of the patients
• Mental retardation in more than 50%
• Ocular disorders in 30% of the patients resulting in congenital glaucoma