Tuberous Sclerosis Complex

What are the signs and symptoms of tuberous sclerosis complex?

Tuberous sclerosis complex can be associated with a wide range of signs and symptoms. Most are related to the tumors caused by the disease. The noncancerous tumors can grow in all parts of the body, but they’re most commonly found on the brain, kidneys, heart, lungs, eyes and skin.

The signs and symptoms of TSC are unique to each person, but they can include:

• Neurological issues due to brain tumors can include seizures or spasms, mental issues such as developmental delays, autism spectrum disorders, learning disabilities, and behavioral problems such as hyperactivity, aggression and social and emotional adjustment issues
• Skin abnormalities, such as patches of light-colored skin, thickened skin, reddish bumps and facial growths resembling acne
• Ungual or subungual fibromas, which are tumors that grow in or around the beds of fingernails and toenails
• Eye abnormalities, such as white patches on the retina, which sometimes affect vision
• Kidney dysfunction affecting the kidney’s process of cleaning the blood and expelling toxins through urine
• Kidney tumors, benign or cancerous growths on the kidney that need monitoring and possibly treatment
• Heart issues, such as circulation problems, are caused by growths on the heart, which are usually larger at birth and shrink as the person grows
• Lung problems, including coughing and shortness of breath (these lung tumors are more common in women than in men)

People with TSC are at risk for life-threatening symptoms related to the brain tumors, kidney lesions or pulmonary lesions. That’s why continued monitoring by a doctor experienced with TSC is important. If your child’s symptoms are not too severe, most people with the disorder can look forward to normal life expectancy with appropriate medical care.

How do we test for tuberous sclerosis complex?

Your child’s doctors will likely perform several tests to help them diagnose TSC, including:

• Brain magnetic resonance imaging (MRI) and other advanced neuro-imaging to visualize tumors
• Electroencephalogram (EEG) to detect any abnormal brain activity
• Echocardiogram (ECHO) to help doctors visualize any tumors on the heart
• Electrocardiogram (EKG) to determine if the heart’s circulation is affected by tumors
• Chest computerized tomography (chest CT) to create a 3D image of the abdominal cavity
• Renal ultrasound and abdominal MRI to create a detailed image of the kidney to determine the existence, size and number of tumors or cysts
• Genetic testing for mutations in the TSC1 or TSC2 genes is positive in about 85% of people with TSC. There remains a subset of about 15% who clearly have TSC but are gene testing negative  

Why choose us to test for tuberous sclerosis complex?

At Children’s Hospital Colorado, we have a comprehensive multidisciplinary clinic for TSC that allows coordination of testing to minimize stress for patients and their family. In addition, all our imaging tests are designed for kids. If radiation is needed, we use the lowest amount possible. We also use distraction techniques to help kids keep still so we can produce better images, and we use technology like virtual reality headsets to further reduce stress.

Tuberous sclerosis complex treatment

While there is no cure for TSC, doctors at Children’s Colorado can treat the variety of complications it causes. As TSC is a lifelong condition, our care team is committed to regularly monitoring your child to ensure they are receiving the best possible treatments in a hospital designed just for kids.

Treatment depends widely on what part of the body TSC is affecting and how severely. Treatment options for the following complications may include:

Seizures and brain tumors

If your child is at risk of seizures due to brain tumors, we may prescribe antiepileptic drugs. We also may prescribe Everolimus (Afinitor®) to treat the benign brain tumors known as subependymal giant cell astrocytomas (SEGA). This medication is also effective for kidney lesions called angiomyolipomas.

Behavioral problems

For behavioral problems, we may recommend an assessment with a developmental pediatrician to determine the need for prescription medications or therapeutic intervention programs (such as early intervention programs, occupational or applied behavior analysis, or ABA, therapy) that can benefit children with special needs and developmental delays caused by TSC.

Cognitive and learning challenges

We usually offer a neuropsychological evaluation to determine your child’s areas of difficulty that may be related to TSC. The evaluation consists of completion of standardized assessments of broad intellectual ability, language, visual spatial and visual motor functioning, memory, attention, executive functioning, as well as behavioral and adaptive screening. Our team uses the results to determine the presence of cognitive and/or learning difficulties (such as ADHD or specific learning disorders) and to provide recommendations for school-based interventions through an Individualized Education Program (IEP) or Section 504 Plan.

Kidney tumors

We may observe the benign tumors until they grow larger and at that point suggest the medication everolimus or procedures to control the tumors.  In very rare instances, we may suggest surgery to remove tumors from the kidneys if they appear to be cancerous.

Brain lesions

Your child’s doctor may also recommend surgery for controlling epilepsy if medications are not effective.

Skin changes

There are many skin changes unique to children with TSC. These changes can help in the diagnosis of TSC and there are options to start treatment in early childhood.

Breathing issues 

Breathing issues related to TSC generally only impact adult women. We treat lung involvement in TSC with supplemental oxygen therapy, everolimus or similar medications.

Why choose us for treatment of tuberous sclerosis complex?

Our team has extensive experience caring for children with TSC, from mild to more complex cases. Because TSC can affect children in many different ways, having a team of specialists who understand the condition is important. Children with TSC often need to see doctors from several different specialties to get the best treatment. Here at Children’s Colorado, we have a multidisciplinary TSC program, which brings together all the relevant medical teams into one clinic, so your child can see everyone they need to see in one visit. We work together to monitor your child’s health, address complications early and provide care tailored to your child’s unique needs.

Additionally, our hospital’s location on Anschutz Medical Campus means we can provide comprehensive care with a focus on education and research for both children and adults. We collaborate with adult neurologists at the UC Health University of Colorado Hospital and University of Colorado School of Medicine to coordinate care for patients with TSC throughout childhood and into their adult life.

The Tuberous Sclerosis Clinic at Children’s Colorado

We created the Tuberous Sclerosis Clinic to address all the issues and complications for kids with TSC. Our multidisciplinary team provides medical, genetic, neuropsychological, dermatological and social support for children with TSC and their families.

During your visit to the multidisciplinary clinic, your child will see a pediatric neurologist, dermatologist, genetic counselor, urologist/nephrologist, developmental pediatrician and neuropsychologist. A social worker and community alliance volunteer will also provide supportive counseling. They can help patients and families get resources and support within the community. This appointment will last about 3-4 hours.

Our TSC Clinic partners with the TS Alliance to offer their TSC Clinic Ambassador Program. This program pairs a TS Alliance community volunteer with our Clinic to help families affected by TSC (especially those newly diagnosed) to deal with the emotional challenges of the disease. Clinic ambassadors share their personal experience with TSC and provide local and regional resource information, including community activities.

Follow-up clinic for tuberous sclerosis

Our follow-up clinic provides ongoing care for your child’s medical, psychological and social needs. During yearly follow-up visits, our team will evaluate the progression of your child’s TSC and create a treatment plan to address any new physical or behavioral developments. Our social worker and community alliance volunteer will also provide supportive counseling and help your family get resources and support within the community. Follow-up visits last approximately three hours.

Sending medical records before your appointment

It is important that we review all medical records including any diagnostic tests prior to your visit. If you have records from outside Children's Colorado, please mail them to us prior to your child’s appointment. Please provide imaging (MRI, ultrasound,etc.) on a CD and mail to:

Children's Hospital Colorado

Attn: Tuberous Sclerosis Clinic

13123 E. 16th Ave., Box B155

Aurora, CO 80045

Helpful resources

• The Tuberous Sclerosis Clinic at Children’s Hospital Colorado provides education, support and care for those with TSC and their families. For information on the clinic, please call 720-777-6895
• The Tuberous Sclerosis Alliance is on a mission to find a cure for TSC while improving the lives of those affected.
• The Genetics Home Reference is the US National Library of Medicine’s guide to understanding genetic conditions.