Tuberous Sclerosis Complex (TSC)

What is tuberous sclerosis complex?

Tuberous sclerosis complex (TOO-bur-uhs skluh-ROH-sis), or TSC, is a rare genetic condition that causes tumors to grow in different parts of the body, especially the brain (called cortical tubers). Where tumors grow and how big they get determine how severe it is.

The tumors usually are not cancerous, but they can cause serious problems. Usually 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.

TSC 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 mammalian target of rapamycin (mTOR). Either the TSC1 or TSC2 gene may be affected. Most often, TSC is caused by a new genetic change. Less often, a parent has an abnormal gene that is passed on to their child.

Why choose Seattle Children’s for your child’s TSC care?

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 TSC. 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.

Our Tuberous Sclerosis Complex Clinic offers your child the most advanced diagnosis and treatments:

  • Genetic testing helps us diagnose children sooner and more precisely. A specific diagnosis helps us start the right treatment designed just for your child. Our genetic counselors explain how other family members might be affected.
  • 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.
  • Over 80% of children with TSC develop epilepsy. Our Epilepsy Program is the only program in the Northwest dedicated to children and teens that is accredited level 4 by the National Association of Epilepsy Centers (NAEC). This means we perform a broad range of complex surgeries and give our patients access to more research studies, clinical trials and advanced technologies.
  • Seattle Children's is among the few children’s hospitals in the country — and the only 1 in our region — to 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.
  • The TSC Clinic is part of our nationally ranked Neurosciences Center. Please contact us at 206-987-2016 for information.
  • Multidisciplinary team for comprehensive care

    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:

  • Specialists in caring for kids and teens
    • 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. Our team is specially trained to understand and meet your child’s 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. They will choose what works best and is safest for your child.
  • Support for your whole family
    • Learning that your child has tuberous sclerosis complex 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 so you can make 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 families from 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.
  • Research to advance care

    Seattle Children’s doctors lead research in the lab and with patients to improve treatment and quality of life for children with TSC. Your child may be able to take part in research studies of new treatments (called clinical trials). They can be helpful 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 complex have seizures (SEE-zhurs).

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 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

A routine ultrasound that shows tumors in the heart may help doctors diagnose tuberous sclerosis complex before a baby is born. Learn how our Fetal Care and Treatment Center can help you prepare.

In many cases, we diagnose TSC 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
  • If your child has had a seizure, do an EEG (electroencephalogram) to look at electrical activity in their brain
  • Genetic counseling and testing

    Genetic testing helps us diagnose your child and personalize their care. 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. We may advise testing other family members for TSC. Testing and genetic counseling can help you make informed decisions about family planning and your child’s treatment.

Treating Tuberous Sclerosis Complex

TSC tumors are rarely cancerous, but sometimes lead to serious problems. Because TSC can affect many parts of the body, your child may need care from doctors who specialize in the brain, kidneys, heart, eyes, skin or lungs. Seattle Children’s TSC Clinic helps make sure your child gets the care they need, in a coordinated way.

How our TSC Clinic helps

At our Tuberous Sclerosis Complex Clinic, we:

  • Check for problems that TSC may cause as your child grows. Finding any problems as soon as possible gives your child the best chance of successful treatment.
  • Give you checklists so your child gets regular checkups and is referred to specialists as needed.
  • Tell you warning signs, such as bad headaches, that can be a sign of increased pressure in the brain. Knowing what to watch for helps find and treat problems early.
  • Teach you about seizures and how to manage them.
  • Coordinate care with specialists your child may need.

Treating Brain Abnormalities

More than 80% of children with tuberous sclerosis complex have brain abnormalities that can cause seizures or a build-up of fluid in the brain (hydrocephalus).

We use MRI (magnetic resonance imaging) to check your child’s brain for tumors when they are first diagnosed and as they grow. We also do MRIs if they have symptoms that indicate problems.

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

  • Medicine to shrink brain tumors

    If your child has many tumors in their brain called subependymal giant cell astrocytoma (SEGA), your doctor may recommend medicine to shrink them. This drug (called an mTOR inhibitor) does the work of the faulty TSC genes and helps control cell growth. Your doctor will talk with you about whether this medicine is a good choice for your child.

  • Medicine to stop seizures

    More than 80% of children with TSC have repeated seizures (epilepsy). Early treatment is important because repeated seizures can injure their brain.

    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 may be helpful to children who have seizures not controlled by current medicines.

  • Surgery for epilepsy

    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

  • Laser ablation to destroy brain tumors

    For some children with tuberous sclerosis complex, 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 one of the few pediatric hospitals in the country that offer laser ablation surgery for brain tumors and epilepsy.

    Read more about laser ablation surgery.

  • Preventing fluid build-up in the skull

    Tumors in the brain sometimes block the flow of cerebrospinal fluid (CSF) and cause fluid to build up (hydrocephalus). This 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.

    We may need to insert a tube (a shunt) inside your child’s body to drain extra fluid from the skull. The fluid drains into another part of the body, where it is absorbed.

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

  • Therapy for learning, emotional or behavior problems

    Some children with tuberous sclerosis complex 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 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

  • Kidneys

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

    To look for kidney tumors, your child’s doctor will use imaging studies such as MRI (magnetic resonance imaging) 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 (embolization) of blood vessels that feed the tumors to shrink or destroy them
    • Surgery to remove the tumors

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

  • Heart

    About 50% of people with tuberous sclerosis complex have growths in the lining of the heart walls (cardiac rhabdomyomas). These are common in babies with TSC.

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

    To diagnose the tumors and check on your child’s heart as they grow, we use these tests:

    • Ultrasound (echocardiogram or echo) to look at the heart structure and blood flow, during pregnancy and after your child is born
    • Electrocardiogram (ECG or EKG) to check for problems with heart rhythm

    Read about:

  • Eyes

    About 50% of children with TSC have tumors that affect the eye. These tumors do not tend to grow over time and do not need treatment, but we make sure they don’t affect your child’s vision.

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

  • Skin

    Most people with tuberous sclerosis complex have many skin changes. They can be present at birth or start to show during childhood. They often affect the face but can happen on other parts of the body.

    The growths are not cancerous, but some people choose to treat growths on the face with medicated skin cream.

    See how we care for skin problems (dermatology).

  • Teeth and gums

    TSC can make teeth and gums 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.

  • Lungs

    Lung tumors can make it hard to breathe or may cause chest pain. They tend to grow during adulthood, not during childhood. They are more likely to affect females with TSC than males.

    If your child has symptoms, they will see a lung specialist.

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).

Paying for Care

Learn about paying for care at Seattle Children’s, including insurance coverage, billing and financial assistance.

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