Sturge-Weber Syndrome

Affects skin and brain

Port wine stain
Port wine stain on the face. Photo © A.D.A.M.

Sturge-Weber syndrome is a disorder of the skin and nervous system. Its most noticeable symptom is a light pink to deep purple birthmark on the face called a port wine stain. However, not all people who have a port wine stain have Sturge-Weber syndrome. Sturge-Weber syndrome is present at birth, but it is not known what causes it or exactly how often it occurs. It affects both males and females of all ethnic backgrounds.

There are three types of Sturge-Weber syndrome:

  • Type I – most common type, includes port wine stain and brain angiomas
  • Type II – port wine stain but no brain angioma
  • Type III – brain angioma but no port wine stain

Symptoms

Symptoms of Sturge-Weber syndrome include:

  • Port wine stain – This birthmark on the face can vary in size, but it usually covers at least one upper eyelid and the forehead. It can range from light pink to deep purple, and is caused by an excessive growth of tiny blood vessels (capillaries) just beneath the surface of the skin. The port wine stain may be harder to see in dark-skinned individuals.
  • Seizures – About 75 to 90 percent of individuals with Sturge-Weber syndrome develop seizures, often starting by one year of age. The seizures result from an excessive growth of blood vessels (angioma) on the surface of the brain, usually on the back of the brain on the same side as the port wine stain.
  • Weakness – About 25 to 56 percent of individuals develop weakness or loss of use of one side of the body (hemiparesis), often on the side opposite the port wine stain.
  • Developmental delay and mental retardation affect about 50 to 60 percent of individuals.
  • Headaches
  • Increased pressure in the eye (glaucoma) – About 70 percent of individuals develop glaucoma in the eye near the port wine stain.

    Diagnosis

    A diagnosis of Sturge-Weber syndrome may be suggested by the presence of a port wine stain over one eye and the forehead. Computed tomography (CT) scan or magnetic resonance imaging (MRI) can examine the brain for the presence of one or more angiomas, which would confirm the diagnosis. The child with Sturge-Weber syndrome will have a neurological examination to check for complications of the brain angioma, such as seizures or weakness.

    Treatment

    Treatment of Sturge-Weber syndrome focuses on the symptoms. If seizures occur, antiseizure medications such as carbamazepine (Tegretol), phenytoin (Dilantin), or valproic acid (Depakote, Depakene) are given. Medications are used to reduce and control glaucoma and headaches. Laser treatment can lighten or remove the port wine stain on the face. Multiple treatments may be needed.

    Sources:

    "What is Sturge-Weber Syndrome?" About SWS/KT/PWS. The Sturge-Weber Foundation. 10 May 2007

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