Sturge-Weber syndrome

It is unknown how many people have this unusual syndrome, but it is thought to be a rare condition.
Both sexes are equally affected.

The causes of the Sturge-Weber syndrome remain unknown.
There does not appear to be any evidence that it is an inherited disorder at this time.
The most likely cause is a new mutation that occurs sporadically.
Although there is no antenatal diagnosis, the typical signs on the baby's face are visible at birth.

The most noticeable feature at birth is a 'port-wine' stain on one half of the baby's face.
This type of 'birthmark' follows the path of the fifth cranial nerve.
This nerve is divided into three branches that supply the forehead, cheek region, and lower jaw, in that order.
The upper branch is most commonly affected in Sturge-Weber syndrome, but all three branches can be affected, resulting in the purplish mark covering the entire side of the face.
The underlying cause is an abnormality in the walls of the tiny blood vessels that supply the skin.
Seizures are a common side effect of this syndrome.
These typically appear after one to two years of age.
This corresponds to the altered X-ray appearance of the brain around this age.
Sometimes one half of the body is paralyzed.
Both of these latter characteristics are caused by the same fundamental abnormality in the blood vessel walls that causes the naevus on the baby's face.
Glaucoma can develop in the eye on the same side as the port-wine stain.
The blood vessel abnormality blocks the narrow passage that allows fluid inside the eye to drain, causing dangerously high tension inside the eyeball. If left untreated, this condition can result in blindness in the affected eye.
The color of the eyes can sometimes differ from one another.
Even if the other eye is brown, the eye on the affected side may be blue.
This is due to an abnormality in the blood vessels at the back of the eye.

Port-wine stain: There is no simple treatment for this type of birthmark, especially if it covers a large area.
Some clinics offer laser treatment, but it is time-consuming because only small areas can be treated at a time.
Expenses are also an issue.
There are cosmetic cover-up creams available that work very well at concealing the mark, but these are more likely to be used later in life rather than in childhood.
Anti-convulsant drugs will be required to treat seizures, and several may need to be tried before the right one, or combination of drugs, is discovered to be effective.
If medication fails to control the fits, surgery to specific affected areas of the brain may be beneficial.
Glaucoma requires immediate treatment with eyedrops or surgery.
Blindness can occur if not treated.
Emotional problems can arise, especially in adolescence, and especially in girls.
Children who are teased about their facial disfigurement may withdraw.
In the most severely affected children, the assistance of a clinical psychologist will be invaluable.

This will be determined by the extent and location of the abnormalities in the blood vessel walls.
If only the skin of the face is affected, there is no danger to life or health; however, if the disease spreads and affects other blood vessels in the brain, seizures can be a serious problem with potentially fatal consequences.