Conditions

Tuberous Sclerosis Complex

What is tuberous sclerosis complex?

Tuberous sclerosis complex (TOO-bur-uhs skluh-ROH-sis) is a rare genetic condition that causes tumors to grow in different parts of the body, especially the brain. It is also called TSC. How severe it is varies widely from person to person. It depends on where tumors grow and how big they get.

The tumors usually are not cancerous, but they can cause serious problems. Most often, the tumors affect the brain, kidneys, heart, lungs, skin and eyes.

  • Brain tumors can cause seizures or increase pressure in the skull.
  • Tumors in the heart may block blood flow or cause an irregular heartbeat.
  • Kidney tumors can stop the kidneys from working right.

  • Tuberous sclerosis complex happens because of changes (mutations) in genes that help control the growth of cells in many different parts of the body. The genes work by limiting the action of a protein called mTOR (mammalian target of rapamycin). Either the TSC1 or TSC2 gene may be affected.

    • In about 65% of children, the condition is caused by a new genetic change that was not inherited from the mother or father.
    • In about 20%, a parent has an abnormal gene that is passed on to their child.
    • In about 15%, no genetic change is found.

Tuberous Sclerosis Complex at Seattle Children’s

Consistently ranked one of the nation's best children’s hospitals by U.S. News and World Report.We have a clinic devoted to caring for children with tuberous sclerosis complex. Our clinic meets the Tuberous Sclerosis Alliance standards for multidisciplinary care provided by doctors who are board certified in medical specialties related to TSC.

We treat your whole child, not just their disease. We work with experts from many medical specialties so your child gets all the care they need in the fewest visits possible.

The Tuberous Sclerosis Complex Clinic is part of our Neurosciences Center. Please contact us at 206-987-2016 for information.

    • Over 80% of children with tuberous sclerosis develop epilepsy. Our Epilepsy Program is the only program in the Northwest for children that is accredited level 4 by the National Association of Epilepsy Centers (NAEC). A level 4 center uses the most advanced technology to diagnose epilepsy and evaluate patients before surgery. Only level 4 centers perform a broad range of complex surgeries to treat seizures.

     

  • Our TSC Clinic will make sure your child gets all the care they need in a coordinated way. Dr. Stephanie Randle directs our TSC clinic. Sarah Kiel, ARNP, is co-director.

    Team members stay in close communication with you – and with your child’s other providers – from diagnosis through treatment and follow-up.

    Your child may see experts in:

    As needed, your child will also get care from experts in nutrition, social work, emotional health and other specialties.

    • State-of-the-art imaging technologies help us find tumors throughout your child’s body.
    • We offer the treatments that fit your child’s needs. Options include surgery, medicines to shrink tumors or control seizures and treatment for neurodevelopmental problems.
    • Seattle Children’s is among only a few children’s hospitals in the country that offer laser ablation surgery for brain tumors and epilepsy. This minimally invasive procedure offers the chance to live a seizure-free life for some kids who have run out of treatment options.
    • Our Heart Center has more than 40 pediatric cardiologists, with experience diagnosing and treating kids in a child-focused, healing environment.
    • Doctors in our Fetal Care and Treatment Center can diagnose problems during pregnancy so you have more time to make decisions and plan care.
    • We have the only kidney dialysis unit in the region just for babies, children and teens.
    • In our Epilepsy Genetics Clinic, we do genetic testing to find out if other family members have tuberous sclerosis.
    • Children don’t react to illness, injury, pain and medicine in the same way as adults. They need – and deserve – care designed just for them. They need a healthcare team specially trained to understand and meet their needs.
    • Our doctors have special training in how to diagnose and treat children. They are focused on how today’s treatment will affect your child as they develop and become adults.
    • Our experts base their treatment plans on years of experience and the newest research on what works best – and most safely – for children and teens.
    • Learning that your child has tuberous sclerosis can be stressful for the whole family. If your child has urgent needs, we see them the same day in our clinic or emergency department. Seattle Children’s is the only hospital in the region with coverage 24 hours a day, 7 days a week by a pediatric neurosurgeon.
    • During visits, we take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.
    • Our doctors, nurses, child life specialists and social workers help your child and your family through the challenges of their illness. We connect you to community resources and support groups.
    • At Seattle Children’s, we work with many children and families from around the Northwest and beyond. Whether you live nearby or far away, we can help with financial counseling, schooling, housing, transportation, interpreter services and spiritual care. Read about our services for patients and families.

  • Seattle Children’s doctors lead research in the lab and with patients to improve treatment and quality of life for children with tuberous sclerosis. Our patients have the option to take part in research studies of promising new treatments. These are called clinical trials. They can be especially relevant if your child’s condition is not well controlled with standard medicines or surgeries.

    Learn about our research and clinical trials for epilepsy and other brain conditions.

Symptoms of Tuberous Sclerosis Complex

Most children with tuberous sclerosis have seizures (SEE-zhurs). Seizures temporarily change your child's state of awareness and physical activity. They are caused by changes in the electrical and chemical activity of the brain.

You may also notice these differences in your child: 

  • Skin abnormalities, such as different-colored patches of skin or bumps on their face, back, gums or fingernails.
  • Tumors that can be seen in the mouth or eyes.
  • Symptoms caused by tumors in their brain, heart or kidneys. For example, tumors in the heart can cause an irregular heartbeat.

Diagnosing Tuberous Sclerosis Complex

Sometimes tuberous sclerosis is diagnosed before a baby is born during a routine ultrasound that shows tumors in the heart. Learn how our Fetal Care and Treatment Center team can help you prepare.

In many cases, TSC is diagnosed after a child has seizures. Babies may have a type of seizure called infantile spasms.

We use the following ways to diagnose and plan the best treatment for your child:

  • Ask about your child’s health and the health of family members.
  • Check your child for signs of the disease, such as skin changes.
  • Do imaging studies using ultrasound or MRI (magnetic resonance imaging) to look for tumors in your child’s brain, kidneys, heart or eyes.
  • Do an EEG (electroencephalogram) if your child has had a seizure. To record electrical activity in their brain, we place small metal cups (electrodes) on the outside of your child’s head. This does not hurt.

  • When a child is diagnosed with tuberous sclerosis, we usually consider testing other family members who might have it. Our genetic counselors can advise you about the pros and cons of genetic testing. They explain test results and your chance of having a child with TSC in a future pregnancy.

    Our genetic counselor will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Treating Tuberous Sclerosis Complex

The tumors caused by tuberous sclerosis are usually not cancerous, but they sometimes cause serious problems.

  • Because tuberous sclerosis can affect many different parts of the body, your child may need care from doctors who specialize in the brain, heart, kidneys, lungs, eyes or skin. Seattle Children’s TSC Clinic helps make sure your child gets the care they need in a coordinated way.

    We help by:

    • Checking for problems that tuberous sclerosis may cause as your child grows. Finding any problems as soon as possible gives your child the best chance of successful treatment.
    • Giving you checklists so your child gets regular checkups and is referred to specialists as needed.
    • Teaching warning signs, such as bad headaches, which can be a sign of increased pressure in the brain. Knowing what to watch for helps find problems so they can be treated as soon as possible.
    • Teaching about seizures and how to manage them.
    • Coordinating care with specialists your child may need.

Treating Brain Abnormalities

More than 80% of children with tuberous sclerosis have brain abnormalities. These may affect the brain’s outer layer (cortex) or the spaces in the brain (ventricles) that hold cerebrospinal fluid (CSF). Brain abnormalities can cause seizures or a build-up of fluid in the brain.

We use MRI (magnetic resonance imaging) to check your child’s brain for tumors when they are first diagnosed. We continue to check regularly during childhood. We also do an MRI scan if they have symptoms that indicate problems.

TSC causes these brain abnormalities:

  • Abnormal cells in the brain’s outer layer (cortical tubers)
  • SEN (subependymal nodules)
  • SEGA (subependymal giant cell astrocytoma) or SGCT (subependymal giant cell tumor)

Seattle Children’s offers these treatments for children with brain tumors caused by TSC:

  • If your child has many SEGA tumors in their brain, your doctor may recommend medicine to shrink them. This type of drug is called an mTOR inhibitor because it limits the action of a protein called mTOR (mammalian target of rapamycin). It does the work of the faulty TSC genes, which normally help control cell growth.

    Your doctor will talk with you about whether this medicine is a good choice for your child.

  • More than 80% of children with tuberous sclerosis have repeated seizures (epilepsy). Early treatment is important because repeated seizures may cause injury.

    For almost all children with epilepsy, the first and most effective treatment is medicine. The goal of antiseizure medicine is to prevent seizures without causing major side effects. It may take a while to find the right medicine, schedule and amount.

    Doctors in our Epilepsy Program have access to many medicines, including some new options that are available to children who take part in research studies (clinical trials). These are especially relevant to children who have seizures that are not controlled with standard medicines.

  • If your child has seizures that do not respond to medicine, your doctor may recommend surgery to remove the abnormal brain tissue. Your child’s healthcare team will do many tests before deciding if surgery is the best option for your child.

    Your child will have EEG testing and imaging studies to show where seizures start in the brain. If the seizure area is near parts of the brain that control critical functions, we will also do “brain mapping” so surgery does not harm areas that control speech, memory and movement.

    Read more about how we treat epilepsy.

  • For some children with tuberous sclerosis, MRI-guided laser ablation surgery is an option with fewer side effects than traditional (open) surgery. This minimally invasive procedure uses light to heat and destroy unwanted cells. It is especially helpful for small tumors deep in the brain.

    Seattle Children’s is among a handful of pediatric hospitals in the country to offer laser ablation surgery for brain tumors and epilepsy.

    Read more about laser ablation surgery.

    An inside look at laser ablation surgery (Video. 1:59)

    Dr. Jeffrey Ojemann, director of epilepsy surgery at Seattle Children’s, explains this cutting-edge treatment for epilepsy.

  • Tumors in the brain sometimes block the flow of cerebrospinal fluid (CSF) and cause fluid to build up (hydrocephalus). It is dangerous if not treated because it can increase pressure in the brain.

    Your child’s team will check for signs of hydrocephalus and increased pressure in the brain. These problems can happen during infancy or as your child grows.

    Your child may need a tube inserted to drain away extra fluid. The fluid drains into another part of the body, where it can be absorbed.

    At regular checkups, we ask about warning signs of increased pressure, such as headaches, vomiting or problems with eyesight. If there are concerns, your child may have imaging studies or a special eye exam to check for swelling at the back of the eye.

    See how we care for children with hydrocephalus.

  • Some children with tuberous sclerosis have problems with learning or with their emotions or behavior. These may include:

    We check your child at each visit and recommend treatments and services they may need to help them reach their full potential.

    Seattle Children’s Neurodevelopmental team cares for children with special needs. Doctors, nurses, social workers, dietitians and physical and occupational therapists work together to meet your child’s needs.

    Our neuropsychologists are experts in how brain development affects a child’s learning and behavior. They can check your child’s memory, attention, thinking, language skills, coordination, senses and personality. They also offer ideas for education planning and behavior management.

    Some kids benefit from physical therapy, speech therapy or occupational therapy. We also work with you to find resources in your community.

Treating Tumors in Other Parts of the Body

  • Tuberous sclerosis affects the kidneys in more than 80% of people with the disorder at some point in their lives.

    To look for tumors in the kidney, your child’s doctor will use imaging studies such as MRI scans or ultrasound. We check your child for kidney tumors:

    • When they are first diagnosed
    • Regularly during childhood
    • Any time they have symptoms that indicate tumors are growing

    We let you know symptoms to watch for, such as pain in the back or belly, nausea, vomiting and fever.

    If tumors are large or causing problems, your doctor may recommend:

    • Medicine to shrink the tumors
    • Heating blood vessels that feed the tumors (embolization) to shrink or destroy them
    • Surgery to remove the tumors

    Learn more about expert kidney care (nephrology) at Seattle Children’s.

  • About half of people with tuberous sclerosis have growths in the lining of the heart walls, called cardiac rhabdomyomas. These are common in babies with TSC.

    An ultrasound of the heart (echocardiography) helps diagnose these tumors. Sometimes the tumors are found before birth by an ultrasound.

    These tumors are usually their largest at birth and get smaller as a child grows. Whether problems develop depends on the number, size and location of these tumors. They can block blood flow to the heart or cause abnormal heart rhythms.

    To keep a careful check on your child’s heart, we use these tests:

    • Ultrasound (echocardiogram or echo) to look at the heart structure and blood flow
    • Electrocardiogram (ECG or EKG) to check for problems with heart rhythm 

    Read about:

  • About 50% of children with tuberous sclerosis have tumors that affect the eye. These tumors do not tend to grow over time, so treatment is not usually needed. But we keep a careful watch to make sure they don’t affect your child’s vision.

    Read about eye care (ophthalmology) at Seattle Children’s.

  • Most people with tuberous sclerosis have several types of changes to their skin. These differences can be present at birth or start to show during childhood. They often affect the face, but also can happen on other parts of the body.

    The growths are not cancerous, but some people choose to treat growths on the face with skin cream that has medicine in it.

    See how we care for skin problems (dermatology).

  • People with tuberous sclerosis have differences in their teeth and gums that make them harder to care for. Children may have pits in the hard coating on their teeth (enamel) or growths on their gums.

    Regular visits with the dentist can help keep your child’s teeth as healthy as possible. Learn more about dental care at Seattle Children’s.

  • Lung tumors are more likely to affect females with tuberous sclerosis than males. They tend to grow during adulthood, not during childhood.

    If your child has symptoms, they will see a lung specialist. Tumors can make it hard to breathe or may cause chest pain.

Contact Us

If you would like an appointment, ask your child’s primary care provider for a referral. If you have a referral, call 206-987-2016 to make an appointment.

Providers, see how to refer a patient.

If you have questions, contact us at 206-987-2016 or 844-935-3467 (toll-free).