Tuberous Sclerosis in Children

Tuberous sclerosis complex (TSC) is a genetic disorder, causing tumors in different organs throughout the body, affecting about 1 in 6,000 births in the US.

Although the tumors that result from TSC are benign (not cancerous), they can cause serious problems depending on their size and location. Complications of TSC include behavioral disorders, seizures and developmental delay.

Because of its varied impact on the body, SSM Health Cardinal Glennon Children’s Hospital has established a multidisciplinary clinic to meet the needs of our patients. This clinic allows for more coordinated care in an effort to better treat your child.

What Causes Tuberous Sclerosis?

Children with a genetic mutation in the TSC1 or TSC2 genes are more likely to develop tuberous sclerosis. Research shows that these genes can actually prevent tumors in non-affected people. Even if a child has only one copy of a mutated gene, they can still develop the condition. TSC affects people of all races and backgrounds, male and female.

Signs & Symptoms of Tuberous Sclerosis in Children

Signs of tuberous sclerosis vary, depending on the organ system that is affected. Tumors can appear in the brain, heart, eyes, kidney, lungs, liver, oral cavity and skin.

Each diagnosis is different, but symptoms can include:

  • Neurological: seizures, developmental delays, autism spectrum disorders, obsessive compulsive-disorder and other behavior problems
  • Circulation problems: caused by tumors in the heart
  • Skin: white spots on the skin (called ash-leaf spots) or rough, thick patches found on the back and neck (shagreen patches)
  • Tumors in or around nail beds: found in the fingers and toes
  • Tumors in the kidney: common and usually appear during the teenage years

Diagnosing TSC in Children

Diagnosis of TSC is done through a clinical exam, imaging tests, and genetic testing, as well as blood testing.

Tuberous Sclerosis is often discovered at birth, but some children remain undiagnosed until complications appear later in life. To identify any tumors, we may perform the following tests:

  • Brain MRI and other advanced neuro-imaging
  • EKG
  • Echocardiogram
  • Electroencephalogram (EEG)
  • Chest computerized tomography (Chest CT )
  • Renal ultrasound

We also perform genetic testing to look for a known mutation in the TSC1 or TSC genes. If your child is diagnosed with TSC, we recommend a yearly brain MRI and ultrasound of the kidneys to check for tumor growth. We may also order additional tests depending on your child’s specific diagnosis.

Treating TSC in Children

There is no cure for tuberous sclerosis. However, with the right medical care and support, you can help your child successfully manage their condition, maintain quality of life.

The Tuberous Sclerosis Clinic at SSM Health Cardinal Glennon

Our TSC clinic provides a coordinated care approach to treating your child, in an effort to accommodate the needs of your family. Our dedicated team of SLUCare Physician Group specialists provide the following services:

Our social worker and community alliance volunteer are also available to provide supportive counseling and assist with obtaining resources and support within your community.

Before your visit, it’s important that we review all medical records including any previously completed diagnostic tests. If your records are from another medical center, please call our nurse coordinators at 314-268-2737 and they will provide you with a way to send any pertinent documentation.

If your child’s been diagnosed with tuberous sclerosis, don’t delay. Schedule an appointment for them at the SSM Health Cardinal Glennon TS clinic. Call our office at 314-268-2737 and help your child on their path to wellness.

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