What is tuberous sclerosis?

Tuberous sclerosis causes growths in the brain, eyes, heart, kidney, skin or lungs. These growths are usually benign (not cancer). The first signs may be seizures and spots on the skin. People in the same family who have tuberous sclerosis may have no learning problems or mild learning problems, or they may have serious learning problems, with seizures that are hard to control.

Tuberous sclerosis isn't common, but it isn't rare either. Up to 40,000 people in the United States have it. The disorder occurs in both sexes and in people of all races and ethnic groups.

How did my child get this disorder?

About half the time, tuberous sclerosis is passed from a parent to a child, or inherited. If one parent has tuberous sclerosis, every child born to that parent has a 50 percent chance of inheriting it.

However, in about half the children who have tuberous sclerosis, the mother and father have no signs of it. It seems that sometimes a normal gene changes (mutates) to the abnormal form that causes tuberous sclerosis.

Doctors have no test to identify a person who has the tuberous sclerosis gene if that person has no signs of it.

If parents who have one child with tuberous sclerosis want to have another child, they need to talk with their family doctor first. The family doctor can refer them to a genetic counselor or medical geneticist who can help them decide what to do.

What are the signs of tuberous sclerosis?

Your doctor may suspect tuberous sclerosis if your baby has a condition called cardiac rhabdomyomas (benign heart tumors) at birth or starts to have seizures, especially a kind of seizure called infantile spasms.

However, your doctor may not be able to tell that your child has tuberous sclerosis until these signs show up:

• White spots on the skin (called hypopigmented macules) that glow under a special lamp

• A rash on the face (called facial angiofibromas)

• A mental disability

Where can I get more information?

For support and information, you can contact this organization:

• National Tuberous Sclerosis Association

• 8181 Professional Place, Suite 110

• Landover, MD 20785-2226

• Telephone numbers: 1-800-225-6872

• Fax number: 1-301-459-0394

• E-mail address: ntsa@ntsa.org

• Web site: http://www.ntsa.org