What is Sturge-Weber syndrome?
Other names include encephalotrigeminal angiomatosis, encephalofacial angiomatosis, or Sturge-Weber-Dimitri syndrome.
A person who has Sturge-Weber syndrome is born with it. Doctors do not know what causes it, but it could be due to a developmental problem in early pregnancy. People may inherit it.
According to the National Organization for Rare Diseases (NORD), about 1 in every 20,000–50,000 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 condition affects the capillaries, 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 on the forehead around the eye, there is a 26 percent chance that they will have Sturge-Weber syndrome.
The condition affects males and females equally.
The hallmark sign of Sturge-Weber syndrome is a port wine stain on the face.
The hallmark sign of Sturge-Weber syndrome is the birthmark. It usually 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 happens because there are too many 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.
The person may also have seizures, weakness on one side of the body, glaucoma, and developmental delay.
The seizures and developmental delay happen because there is an extra layer of blood vessels over the surface of the brain.
Complications and health issues
A number of health problems can arise with Sturge-Weber syndrome. Most of these emerge during the first 12 months of life.
Neurological problems may include:
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.
Regular eye tests can assess for glaucoma, which is more likely with Sturge-Weber syndrome.
Eye problems may occur, and around 70 percent of individuals with Sturge-Weber syndrome develop glaucoma.
Glaucoma happens when fluid collects and raises the pressure in the eye.
Without treatment, this can cause damage in the optic nerve and the nerve fibers in the retina.
Vision loss can result.
The eye may also bulge out of its socket.
Other possible complications
There is also a higher risk of:
- developmental delay and learning difficulties
- emotional and behavioral problems in children
- migraine and other headaches
- sleep apnea
- growth hormone deficiency
- ear nose and throat problems
- sinus and ear infections
Rarely, it affects the internal organs.
To diagnose Sturge-Weber syndrome, a physician will look at the symptoms, and especially:
- the port-wine stain
- any incidence of glaucoma
- neurological symptoms, such as convulsions
An full eye examination can detect glaucoma and other eye problems that may occur with 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 detailed picture of the brain and blood vessels.
A CT scan of the head can show if there is calcification in the brain.
A specialized scan, known as a SPECT scan, can show areas of involvement in the brain that may not show up in other imaging techniques.
Occasionally, a doctor may recommend angiography to evaluate the health of blood vessels and to detect and exclude a high-flow lesion, for example, an arterial venous malformation.
Laser treatment can lighten or remove the stain.
There is no cure for Sturge-Weber, but people can take measures to treat the symptoms.
- Laser treatment can remove or lighten the birthmark, even in infants aged 1 month. The stain may come back again, but doctors are now using a topical application known as sirolimus that helps to prevent the capillaries from growing back.
- Anticonvulsants can help prevent seizures. If these do not work, and the condition affects only one side of the brain, a surgeon may carry out a hemispherectomy, a procedure to disconnect the affected part.
Additional support includes:
- Physical therapy can help to strengthen muscles.
- Regular full eye tests: These are necessary because there is a high risk of glaucoma. Follow-up should continue into adulthood. The doctor may prescribe eye drops. In serious cases, the person may need surgery.
- Individualized or specialized education: If a child experiences developmental delays, this might be appropriate.
If the individual has seizures, but treatment can control them, the outlook is better. If the syndrome affects both sides of the brain, it is more difficult to treat, and the outlook is worse.