Sturge-Weber
Syndrome
What
is it?
Sturge-Weber syndrome is also
known as encephaiofacial angiomatosis.
It is a rare, progressive, congenital
disability that affects the skin, brain
development and function, and psychosocial
development of the patient. Sturge-Weber is most
commonly marked by port wine colored birthmark
typically over one eyelid and the forehead.
Who
gets it?
Sturge-Weber syndrome is
present at birth.
What
causes it?
The cause of Sturge-Weber
syndrome is unknown.
Because it is rare, the specific risk
factors have not been identified.
What
are the symptoms?
Symptoms of Sturge-Weber
syndrome include port wine stain on the face,
convulsions, problems with vision (glaucoma),
paralysis on one side (hemiparesis), and learning
disabilities.
The port wine stain may be limited to one side of the
face or may involve the whole head, extremities,
and trunk of the body. The
stain varies from light pink to deep purple. Neurological
problems, such as seizures, are caused by
excessive vascular development of the brain (angiomas).
How
is it diagnosed?
While the port wine stain is
a sign, it is not always present in infants with
Sturge-Weber.
However, a skull X-ray will show damage to the inner layer of
the skull caused by the angiomas and intracranial
calcifications.
What
is the treatment?
There is no known cure.
Treatment is based on the symptoms. Seizures are
treated with antiseizure medications such as
phenobarbital, Dilantin, or carbamazepine. Occasionally,
the affected portion of the brain is surgically
removed to try to prevent seizures that are
difficult to control with medications.
Paralysis or weakness is treated with appropriate physical
therapy. Learning
disabilities require school intervention.
Glaucoma treatment includes early
intraocular pressure testing and treatment to
prevent blindness. Port
wine stains can be treated with laser therapy.
Most cases of Sturge-Weber are fairly mild, and in
such cases life expectancy is normal.
Self-care
tips
There are no known preventive
measures for Sturge-Weber syndrome.
However, all birthmarks should be evaluated
by a healthcare provider.
This information has been designed as a comprehensive and quick reference
guide written by our health care reviewers. The health information written
by our authors is intended to be a supplement to the care provided by your
physician. It is not intended nor implied to be a substitute for
professional medical advice.
|
