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Sturge-Weber syndrome
Encephalotrigeminal angiomatosis
Sturge-Weber syndrome is a rare disorder that is present at birth. A child with this condition will have a port-wine stain birthmark (usually on the face) and may have nervous system problems.
Causes
In many people, the cause of Sturge-Weber is due to a mutation of the GNAQ gene. This gene affects small blood vessels called capillaries. Problems in the capillaries cause the port-wine stains to form.
Port-wine stains
A port-wine stain is a birthmark in which swollen blood vessels create a reddish-purplish discoloration of the skin.
Sturge-Weber is not thought to be passed down (inherited) through families.
Symptoms
Symptoms of Sturge-Weber syndrome include:
- Port-wine stain (more common on the face than the rest of the body)
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Seizures
Seizures
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
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Paralysis
or weakness on one side
Paralysis
Muscle function loss is when a muscle does not work or move normally. The medical term for complete loss of muscle function is paralysis.
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- Glaucoma (very high fluid pressure in the eye)
Exams and Tests
Glaucoma may be one sign of the condition.
Glaucoma
Glaucoma is a group of eye conditions that can damage the optic nerve. This nerve sends the images you see to your brain. Most often, optic nerve da...
Tests may include:
-
CT scan
CT scan
A computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...
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MRI scan
MRI scan
A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
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Treatment
Treatment is based on the person's signs and symptoms, and may include:
- Anticonvulsant medicines for seizures
- Eye drops or surgery to treat glaucoma
-
Laser therapy
for port-wine stains
Laser therapy
Laser therapy is a medical treatment that uses a strong beam of light to cut, burn, or destroy tissue. The term LASER stands for "Light Amplificatio...
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- Possible brain surgery to prevent seizures
Outlook (Prognosis)
Sturge-Weber syndrome is usually not life threatening. The person's quality of life depends on how well their symptoms (such as seizures) can be prevented or treated.
The person will need to visit an eye doctor (ophthalmologist) at least once a year to treat glaucoma. They also will need to see a neurologist to treat seizures and other nervous system symptoms.
Possible Complications
These complications can occur:
- Abnormal blood vessel growth in the skull
- Continued growth of the port-wine stain
- Developmental delays
- Emotional and behavioral problems
- Glaucoma, which may lead to blindness
- Paralysis
- Seizures
When to Contact a Medical Professional
The health care provider should check all birthmarks, including a port-wine stain. Seizures, vision problems, paralysis, and changes in alertness or mental state may mean the coverings of the brain are involved. These symptoms should be evaluated right away.
Prevention
There is no known prevention.
References
Sahin M. Sturge-Weber syndrome. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.
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Sturge-Weber syndrome - soles of feet - illustration
This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome. Glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures may also be seen.
Sturge-Weber syndrome - soles of feet
illustration
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Sturge-Weber syndrome - legs - illustration
Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.
Sturge-Weber syndrome - legs
illustration
-
Circulatory system - illustration
Blood used by the body is brought back to the heart and lungs by the veins of the body. Once the blood has gathered more oxygen from the lungs, it is pumped back out to the body through the arteries.
Circulatory system
illustration
-
Sturge-Weber syndrome - soles of feet - illustration
This picture shows the soles of two feet involved with port wine stain. Port wine stains in the face may be seen in Sturge-Weber syndrome. Glaucoma, retinal detachment, calcification of the outer layers of the cerebral cortex, and seizures may also be seen.
Sturge-Weber syndrome - soles of feet
illustration
-
Sturge-Weber syndrome - legs - illustration
Sturge-Weber syndrome is a disease that affects the skin and nervous system (neurocutaneous) and is associated with Port Wine Stain, red vascular markings on the face and other parts of the body (shown here on the legs). This is an unusual case, due to the large size of the lesion (extensive involvement). Occasionally seizures or learning disorders are also associated with Sturge-Weber syndrome.
Sturge-Weber syndrome - legs
illustration
-
Circulatory system - illustration
Blood used by the body is brought back to the heart and lungs by the veins of the body. Once the blood has gathered more oxygen from the lungs, it is pumped back out to the body through the arteries.
Circulatory system
illustration
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
