Tuberous Sclerosis Complex

Tuberous sclerosis complex is a rare genetic disorder that causes tumors to grow in the brain, kidneys, heart, lungs, skin, eyes, and other organs. Most of these tumors are benign, but they can significantly impact health and development. 

Tuberous sclerosis complex requires coordinated care to treat the variety of issues it can cause, including developmental delays, behavior problems, autism, and epilepsy. It can also cause problems with skin, kidneys, heart, lung, eyes, and teeth. Most people with TSC disease usually develop signs and symptoms within the first year of life, whereas others may be much older before symptoms begin.

A neurologist with specialized training and expertise in diagnosing and treating tuberous sclerosis complex serves as your primary point of care. Because tuberous sclerosis tumors often grow in the brain and kidneys, we hold combined tuberous sclerosis clinics so you or your child can see a neurologist and a nephrologist at the same time. People who experience seizures due to TSC may also see an epileptologist on the same day. These doctors will review your medical history and any previous test results, perform a comprehensive physical exam, and recommend additional tests.

Your care team may also include other experts who are skilled in treating TSC and related concerns:

• Cardiologists
• Child life specialists
• Dermatologists
• Neurosurgeons
• Nutritionists
• Oncologists
• Ophthalmologists
• Pain management specialists
• Pulmonologists
• Psychiatrists
• Social workers

Our goal is to make an accurate diagnosis at the earliest-possible stage. There are two main ways that TSC is diagnosed.

Testing for Clinical Features
Your medical team may perform imaging scans (ultrasounds, CT scans, or MRIs) or a variety of other tests including electroencephalograms (EEGs), electrocardiograms (ECGs), echocardiograms, pulmonary function tests, eye and skin exams, and others to identify features of TSC.

Genetic Testing
Blood tests can identify genetic mutations that cause TSC. A genetic counselor can explain how the test results may affect other members of your family.

The appropriate treatment for tuberous sclerosis depends on where tumors grow in the body, their size, whether they are benign, and how they might affect function, growth, and development. The following treatments may be part of your or your child's care plan.

Medications
Anti-epileptic medications may be prescribed to control seizures. Other medications may be prescribed to slow tumor growth or to treat conditions that arise as a result of the tumors.

Laser Surgery and Topical Creams
These may be recommended to manage skin issues.

Surgery
Surgical procedures may help alleviate symptoms. When appropriate, we use minimally invasive options and the latest surgical techniques, such as ablation surgery to treat epileptic seizures.

Behavioral Therapies
A developmental specialist will help manage related disorders, such as autism, anxiety, ADHD, and depression.

Long-Term Monitoring
Long-term monitoring and screening help identify new tumors at the earliest stages, before problems develop. This is especially critical to reduce the risk of neurological complications that may result when tumors develop within the brain. 

TSC Center of Excellence
Duke is one of only three North Carolina centers recognized as a Tuberous Sclerosis Clinic, and we are the only facility in the state to receive the Center of Excellence designation from the Tuberous Sclerosis Alliance -- a nonprofit professional association dedicated to tuberous sclerosis research and advocacy. This recognizes that we meet clinical practice standards for the highest-quality care of children and adults with tuberous sclerosis. People travel from across the country to seek care at Duke for TSC disease.

Newest Therapies and Clinical Research
Our specialists stay up to date with ongoing research and the newest therapies for treating complications associated with tuberous sclerosis complex. We participate in clinical trials to discover new and better therapies for managing tuberous sclerosis complex and related conditions.

Transition to Adult Care
Our experts help children make the transition to adult care when they turn 18. This continuity of care ensures your child continues to receive ongoing monitoring and treatment for this lifelong disease.

Epilepsy Specialists Join in Your Care
Seizures occur in more than 80% of people with TSC disease. If you or your child has seizures, epilepsy specialists called epileptologists will be involved in your care. Duke is designated a Level 4 Epilepsy Center, the highest designation available, by the National Association of Epilepsy Centers based on our expertise and use of high-tech imaging and surgical techniques.