Tuberous Sclerosis Complex (TSC)

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.

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.

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.

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 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.

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.

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

• Anxiety
• ADHD (attention deficit hyperactivity disorder)
• Autism
• Depression
• Developmental delays

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.

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.

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:

• Our nationally ranked heart specialists
• How our Fetal Care and Treatment Center can help you prepare

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.

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).

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.

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.

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:

• • The nervous system (neurology and neurosurgery)
  • Epilepsy
  • Kidneys (nephrology)
  • Heart (cardiology)
  • Eye disorders (ophthalmology)
  • Skin (dermatology)
  • Teeth (dentistry)
  • Lungs (pulmonary)
  • Child development (neurodevelopmental)
  • Behavior and learning (neuropsychology)
  • Nutrition
  • Social work
  • Emotional health

• 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.

• 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.

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.