Tuberous Sclerosis: Symptoms, Causes and Treatment

Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a neurological disorder that can cause growths (called tubers) and tumors to develop inside organs like the brain, kidneys, lungs, heart and skin. Although the tumors typically are non-cancerous, they can cause serious health complications if left untreated.

The University of Chicago Medicine is home to a unique, team-based tuberous sclerosis program, where our experts in pediatric neurology and neurosurgery diagnose and manage this condition in patients of all ages. By including adults and children in one comprehensive clinic, our specialists can care for patients with tuberous sclerosis as their needs change from birth through adulthood.

What is tuberous sclerosis?

Tuberous sclerosis is a lifelong disease caused by a mutation in the TSC1 or TSC2 genes that is inherited from a parent or acquired during fetal development. Tuberous sclerosis is often diagnosed during infancy. However, in some people with mild forms of TSC, it can remain undiagnosed.

Because TSC can cause serious complications, it requires ongoing monitoring and management from specialists who understand the disease.

Tuberous Sclerosis Symptoms

People with TSC can experience a wide range of issues, from mild symptoms to life-threatening complications. Some of these include:

• White patches on the skin
• Skin rashes
• Rough growths around the nails
• Headaches
• Nausea and vomiting
• Difficulty breathing (caused by growths in the lungs)
• Problems with kidney function (caused by kidney tumors)
• Seizures that often develop during childhood (caused by brain tumors)
• Irregular heartbeat (caused by heart tumors)

Tuberous sclerosis complex can also raise the risk of autism spectrum disorder and developmental delays.

Although there currently is no cure for tuberous sclerosis, early intervention and comprehensive care can help patients manage their symptoms. That is why it’s important to see a specialist early on. At the UChicago Medicine Tuberous Sclerosis Program, our physicians understand that symptoms and health concerns change as patients grow. We provide personalized care for patients in all stages of life who experience tuberous sclerosis in different ways.

Tuberous Sclerosis Diagnosis

Our neurologists use a variety of tools to diagnose this complex condition, including:

• Computed tomography (CT), which produces detailed images of bones, muscles, fat and organs
• Electroencephalography (EEG), which records electrical activity in the brain
• Eye exams to look for abnormal growths in the retina
• Genetic testing to check for the TSC1 and TSC2 genetic mutations. (Genetic counseling also can determine if tuberous sclerosis affects other members of your family.)
• Magnetic resonance imaging (MRI), which provides information about brain and kidney growths
• Skin exams to look for abnormal growths and light or red patches

Because TSC can be difficult to diagnose, it is important to go to specialists who understand the signs of TSC. Early diagnosis can help prevent some complications of TSC.

Tuberous Sclerosis Management and Treatment

Tuberous sclerosis can raise a person’s risk of developing benign and malignant (cancerous) tumors, seizures and other serious problems. When you come to UChicago Medicine, you will be seen by an expert team of different specialists who will work together to help prevent these problems.

The treatment plan will depend on factors such as age, medical history and the severity and projected course of the disease. Before recommending treatment, we will also spend time learning about your specific needs and goals.

Some strategies that our physicians may suggest include:

• Educational and/or occupational therapy to maximize your (or your child’s) ability to perform everyday tasks
• Medication to control seizures or manage related behavioral problems
• Targeted therapy, such as mammalian target of rapamycin (mTOR) inhibitors, to treat benign brain tumors called subependymal giant cell astrocytomas (SEGAs) that are common in people with tuberous sclerosis: These medicines can be used instead of surgery to treat these brain tumors.
• Surgery to treat skin growths or remove any tumors that affect vital organs
• Vagus nerve stimulation, a minimally invasive surgical alternative to reduce seizures