Tuberous Sclerosis

Tuberous sclerosis is a rare genetic disorder that causes tumors to grow in various organs of the body, such as the brain, skin, heart, eyes, kidneys, and lungs. Almost all of these tumors are benign (not cancerous), but they can cause health problems. The condition varies wildly. For some children, the disease will be mild, while for others it may have life-threatening complications.

Click here to learn more about our Tuberous Sclerosis (TSC) Clinic.

Symptoms

Tuberous sclerosis is a result of either a mutation associated with TSC1 or TSC2 gene or inheritance of an altered TSC1 or TSC2 gene from a parent who has the disorder.

Symptoms are different for each person and can range from mild to severe, depending on the size and/or location of the tumor in the body. Symptoms may include:

  • Skin abnormalities
  • Seizures
  • Cognitive disabilities
  • Behavioral problems
  • Kidney problems
  • Heart issues
  • Lung problems
  • Eye abnormalities
<img src="kid.jpg" alt="kid playing in the garden" />

Diagnosis

To diagnose your child’s condition and determine the severity of the disease, the following exams may be requested:

  • MRI
  • Echocardiogram
  • Ultrasound of the kidneys
  • Chest X-ray
  • Genetic testing to look for a TSC-related gene change

Tuberous Sclerosis Treatment in Central Austin, South Austin & Cedar Park, TX

There is no cure for TSC, yet. However, there are many effective options for treating most symptoms. These include:

  • Anti-seizure medications
  • Behavioral therapies
  • Laser surgery and topical creams
  • Occupational therapy
  • Surgical procedures

Resources

Website Resources

Support Groups

For a complete tuberous sclerosis evaluation, call Child Neurology Consultants of Austin at (512) 494-4000, or request an appointment now. We look forward to serving you at one of our three convenient locations in Central Austin, Cedar Park, or South Austin.