What is Sturge-Weber syndrome?


Sturge-Weber syndrome is a congenital disorder that affects the skin, the neurological system, and sometimes the eyes. It is not curable, but it is not fatal.

It is also known as encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.

A person who has Sturge-Weber syndrome is born with it. The cause is unknown, but it could be due to a developmental problem in early pregnancy. It may be inherited.

According to the National Organization for Rare Diseases (NORD), about 1 in every 50,000 people in the United States is born with Sturge-Weber syndrome.

About 3 in every 1,000 newborns a have a port-wine stain, which is a cutaneous capillary malformation, a problem with the capillaries just under the skin.

The stain is an indication that the capillaries are affected, but Sturge-Weber syndrome has neurological implications too. It is known as a neurocutaneous disorder.

Around 6 percent of children born with a port-wine stain on the face will have Sturge-Weber syndrome. If an infant has a stain near the ophthalmic branch of the trigeminal nerve, there is a 26 percent chance that this will indicate Sturge-Weber syndrome.

The condition affects males and females equally.


Signs and symptoms of Sturge_Weber syndrome

It is important for people with Sturge-Weber syndrome to have a regular eye examination.

The hallmark sign of Sturge-Weber syndrome is the birthmark. It normally affects the forehead and an upper eyelid, and it may affect both sides of the face. This is related to an abnormal development in the brain.

The discoloration is due to an over-abundance of capillaries around the ophthalmic branch of the trigeminal nerve.

The mark can vary in color from deep purple to light pink. It is very rare for a person with Sturge-Weber syndrome not to have a mark on the face.

There may also be seizures, weakness on one side of the body, glaucoma, and developmental delay.

The seizures and developmental delay are due to an extra layer of blood vessels over the surface of the brain.

Health issues and complications

Sturge-Weber syndrome is associated with several health problems. Most of these emerge during the first 12 months of life.

Neurological problems may include weakness, paralysis, and convulsions. If the birthmark is on one side of the face, these symptoms usually affect the opposite side of the body.

Convulsions, or seizures, often appear before the age of 12 months, and they may worsen with age. Infants who have seizures before the age of 2 years may also have learning difficulties.

Eye problems may occur, and around 70 percent of individuals with Sturge-Weber syndrome develop glaucoma.

Glaucoma is an accumulation of fluid in the eye that causes an elevation in pressure. Without treatment, the optic nerve and nerve fibers in the retina can become damaged, and the patient can go blind.

The eye may also bulge out of its socket.

Other signs and symptoms include developmental delay and learning difficulties. Emotional and behavioral problems are also more common in children with Sturge-Weber syndrome.

The person will be more prone to migraine and other headaches.

Rarely, it affects the internal organs. There is an increased risk of ear nose and throat problems, such as problems with the sinuses and frequent ear infections.

Certain patients have a higher risk of sleep apnea. There is also an association with hypothyroidismand growth hormone deficiency in these patients.

In time, the brain on the side with the stain may shrink, and calcium deposits build up in the abnormal vessels and the brain below them. This may be visible on a CT brain scan or MRI.

Diagnosis of Sturge-Weber syndrome

To diagnose Sturge-Weber syndrome, a physician will look at the symptoms, notably the port-wine stain, any incidence of glaucoma, and neurological symptoms such as convulsions.

An opthalmological examination can detect glaucoma and other eye problems that may be linked to the syndrome.

A number of imaging tests can identify neurological complications. These include X-rays of the skull and MRI with gadolinium. Gadolinium is a contrast agent that can provide a more detail picture of the brain and blood vessels. A CT scan of the head can show if there is calcification in the brain.

A specialized CT scan, known as a SPECT scan, can show areas of involvement in the brain that may not show up in other imaging techniques.

Occasionally, angiography may be used to evaluate the health of blood vessels and to detect exclude a high-flow lesion, for example, an arterial venous malformation.

Treatment options for Sturge-Weber syndrome

Sturge-Weber treatment cannot be cured, but measures can be taken to treat the symptoms.

Laser treatment can remove or lighten the birthmark, even in infants aged 1 month.

Anticonvulsants can help prevent seizures. If these do not work, and only one side of the brain is affected, the affected part of the brain may be surgically disconnected. This is called hemispherectomy.

A complete eye test should be carried out regularly, because of the high risk of glaucoma. Follow up should continue into adulthood. The doctor may prescribe eye drops, and in serious cases, surgical intervention may be necessary.

Physical therapy can help to strengthen muscles.

If there is developmental delay, the child may need individualized or specialized education.

If the seizures can be controlled, the outcome is better, although not normal. If the syndrome affects both sides of the brain, it is more difficult to treat, and the prognosis is worse.

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