Sturge-Weber Syndrome Health Article

Definition

Sturge-Weber syndrome (SRS) is a condition involving specific brain changes that often cause seizures and mental delays. It also includes port-wine colored birthmarks (or "port-wine stains"), usually found on the face.

Description

The brain finding in SRS is leptomeningeal angioma, which is a swelling of the tissue surrounding the brain and spinal cord. These angiomas cause seizures in approximately 90% of people with SWS. A large number of affected individuals are also mentally delayed.

Port-wine stains are present at birth. They can be quite large and are typically found on the face near the eyes or on the eyelids. Vision problems are common, especially if a port-wine stain covers the eyes. These vision problems can include glaucoma and vision loss.

Facial features, such as port-wine stains, can be very challenging for individuals with SWS. These birthmarks can increase in size with time, and this may be particularly emotionally distressing for the individuals, as well as their parents. A state of unhappiness about this is more common during middle childhood and later than it is at younger ages.

Genetic profile

The genetics behind Sturge-Weber syndrome are still unknown. Interestingly, in other genetic conditions involving changes in the skin and brain (such as neurofibromatosis and tuberous sclerosis) the genetic causes are well described. It is known that most people with SRS are the only ones in their family with the condition; there is usually not a strong family history of the disease. However, a gene known to cause SRS is still not known. For now, SRS is thought to be caused by a random, sporadic event.

Demographics

Sturge-Weber syndrome is a sporadic disease that is found throughout the world, affecting males and females equally. The total number of people with Sturge-Weber syndrome is not known, but estimates range between one in 400,000 to one in 40,000.

Signs and symptoms

People with SWS may have a larger head circumference (measurement around the head) than usual. Leptomeningeal angiomas can progress with time. They usually only occur on one side of the brain, but can exist on both sides in up to 30% of people with SWS. The angiomas can also cause great changes within the brain's white matter. Generalized wasting, or regression, of portions of the brain can result from large angiomas. Calcification of the portions of the brain underlying the angiomas can also occur. The larger and more involved the angiomas are, the greater the expected amount of mental delays in the individual. Seizures are common in SWS, and they can often begin in very early childhood. Occasionally, slight paralysis affecting one side of the body may occur.

Port-wine stains are actually capillaries (blood vessels) that reach the skin's surface and grow larger than usual. As mentioned earlier, the birthmarks mostly occur near the eyes; they often occur only on one side of the face. Though they can increase in size over time, port-wine stains cause no direct health problems for the person with SWS.

Vision loss and other complications are common in SWS. The choroid of the eye can swell, and this may

lead to increased pressure within the eye in 33-50% of people with SWS. Glaucoma is another common vision problem seen in SWS, and is more often seen when a person has a port-wine stain that is near or touches the eye.

In a 2000 study about the psychological functioning of children with SRS, it was noted that parents and teachers report a higher incidence of social problems, emotional distress, and problems with compliance in these individuals. Taking the mental delays into account, behaviors associated with attention-deficit hyperactivity disorder (ADHD) were noted; as it turns out, about 22% of people with SWS are eventually diagnosed with ADHD.

Diagnosis

Because no genetic testing is available for Sturge-Weber syndrome, all diagnoses are made through a careful physical examination and study of a person's medical history.

Port-wine stains are present at birth, and seizures may occur in early childhood. If an individual has both of these features, SWS should be suspected. A brain MRI or CT scan can often reveal a leptomeningeal angioma, brain calcifications, as well as any other associated white matter changes.