Tuberous Sclerosis Complex

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Contact the Tuberous Sclerosis Program

  • 1-617-355-6388
  • International: +1-617-355-5209

Our bodies are stocked with sophisticated controls that keep our cells working in harmony with one other, so that no cells grow to overstep their bounds. When one of these central systems isn’t working as it usually does, problems can occur in many different parts of the body.

That’s what happens in tuberous sclerosis complex (TSC; also called tuberous sclerosis or TS): A single change in your child’s DNA can allow cells to grow in an abnormal way, which can produce a variety of symptoms. These may include:

  • Benign tumors and other abnormal tissue in organs including the brain, skin, heart, eyes, kidneys and lungs
  • Epilepsy
  • Intellectual disabilities and behavioral disorders, including autism spectrum disorders

Some children with TSC face serious problems, while for others, the disease is very mild. It’s important to know that even though the list of possible complications is long, every child with TSC doesn’t experience all of them.

Here’s some basic information about tuberous sclerosis complex:

  • TSC can be caused by a DNA change (mutation) in either of two genes. In about 80 percent of children who have TSC, genetic testing can detect a TSC - causing mutation.
  • Most children with TSC are the first people in their families to have TSC, because their disease is caused by a new mutation.
  • About one in 6,000 children are born with TSC. Symptoms usually appear before a baby is 6 months old.
  • TSC affects all ethnic groups, and girls and boys have an equal chance of having the disease.
  • There’s not a cure for TSC, but complications often can be managed well if they’re caught and treated early.
  • Most children under an experienced physician’s care can expect to grow up to live active and productive lives with a normal life expectancy.

In the last several years, researchers have made major discoveries about the causes of TSC, and these scientific findings are leading to promising new treatments.

How Boston Children’s Hospital approaches tuberous sclerosis complex

At Boston Children’s, we formed the Multi-Disciplinary Tuberous Sclerosis Program with the belief that children with TSC benefit from care that is coordinated and specially tailored to their needs.

  • Our team brings together pediatric specialists from Epilepsy, Neurosurgery, Psychiatry, Psychology, Cardiology, Nephrology, Ophthalmology, Dermatology and Genetics. Each member of our team has special expertise in treating children with tuberous sclerosis.
  • Your child can see all of his specialists at the same location, and we work closely with one another to stay on the lookout for any complications he may have and to manage them effectively.
  • A nurse coordinator, licensed genetic counselor and educational consultant compassionately support our patients and their families.

In addition to providing expert care today, we’re searching for ways to improve the lives of children with TSC tomorrow by conducting research to better understand the disease and find new treatments. We’re conducting clinical trials of new drugs, studying the complications that children with TSC can experience and looking for DNA abnormalities that may contribute to the disease.

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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