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Tuberous Sclerosis Complex / TSC (Pediatric)

What is tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a genetic disorder that causes nonmalignant tumors to grow in many different organs, usually in the brain, eyes, heart, kidneys, skin, and lungs. However, the severity of this condition varies and takes many forms.

At least two children are born each day with TSC and this condition now affects nearly 50,000 people in the United States. Many people remain undiagnosed for years or decades because little is known about the disease, and symptoms can be so mild that they go unnoticed.

When TSC affects the brain, it may significantly impact children's quality of life, producing seizures, developmental delays, intellectual disabilities, and autism. However, many children with TSC go on to live healthy, productive lives.

What are the symptoms and complications of tuberous sclerosis complex?

TSC manifests in children in many different ways, including tumors that affect the muscle tissue. The tumors are not cancerous, but if they grow to a certain size, they may have serious consequences. TSC can result in a variety of symptoms and affect many organs:

  • Brain: TSC causes the most problems in the brain and produces three types of lesions: cortical tubers (for which the disease is named), subependymal nodules (SEN), and subependymal giant-call astrocytomas (SEGA). SEGAs may block the flow of fluid within the brain, causing a build-up of fluid and pressure and leading to headaches and blurred vision. Most people with TSC will also have seizures at some point during their lives. Other problems are developmental delays, problems with cognition, reduced intellectual function, and autism.
  • Eyes: Nonmalignant growths in the eyes (phakomas) are less common, though they can block a portion of the retina and interfere with vision.
  • Heart: Cardiac rhabdomyoma is an abnormal growth in the heart muscle that sometimes appears on an ultrasound during pregnancy. The growth generally decreases in size after birth but can block blood flow in initial stages, causing severe arrhythmia.
  • Kidneys: Cysts and nonmalignant tumors (angiomyolipomas) in the kidneys may disrupt normal function. These issues are found in 70 to 80 percent of people with TSC. Tumors sometimes grow large enough to cause bleeding and kidney failure.
  • Lungs: Cysts and nonmalignant tumors may form in the lungs. Lung lesions are lymphangioleiomyomatosis (LAM) and multinodular multifocal pneumocyte hyperplasia (MMPH). Many children with these issues have no symptoms while others suffer from breathlessness that goes from mild to severe.
  • Mouth: Changes to teeth (dental pits) and gums (gingival fibromas) may occur.
  • Skin: Abnormal skin growths (angiofibromas) or pigmentation (hypomelanotic macules) are associated with TSC.

In addition, bone cysts and rectal polyps may occur in children with TSC.

How is tuberous sclerosis complex diagnosed?

Our neurologists work with a multidisciplinary team to provide the most comprehensive evaluation.

We diagnose TSC with genetic testing and do a clinical examination of the skin, checking the fingernails, toenails, teeth, and gums. While examining infants and children with pale skin, physicians may use ultraviolet light to look for pigmentation changes.

We follow this examination with imaging tests to look for brain tumors:

  • Computed tomography (CT or CAT scan) uses X-rays and computer technology to produce cross-sectional images of the body more detailed than those provided by an X-ray.
  • Magnetic resonance imaging (MRI) scan uses radio waves and magnetic fields to produce images of body tissue.
  • Ultrasound of the heart and kidneys may be ordered to identify tumors in those organs. An ultrasound uses high-frequency sound waves to visualize internal organs of the body.

How is tuberous sclerosis complex treated?

Our team has special expertise in the diagnosis and treatment of this complex condition. Our approaches are:

Tumor control

  • Drug therapy is used to shrink tumors.
  • Embolization, or a procedure to block blood flow to shrink a tumor, can also be used to destroy individual tumors before they get too large and start to compromise healthy tissue.
  • Tumors may be removed by surgery.

Seizure control

  • Some anti-seizure drugs are effective in people with TSC.
  • Technology identifies the exact portions of the brain stimulating seizures, and we use the latest therapies to help control them.
  • We also carefully monitor children with TSC throughout their lives.

Advanced therapies

Thanks to new research and advanced therapies, children with TSC have better outcomes than ever before.

  • In fall 2010, the Food and Drug Administration approved the first drug specifically for TSC. It treats a type of brain tumor: subependymal giant cell astrocytomas (SEGAs).
  • In 2012, the same drug was approved to treat growing angiomyolipomas, a type of kidney tumor in patients with TSC.
  • Ongoing clinical studies explore the effects of drug treatment on neurocognitive function, a new combination drug treatment for lung tumors (LAM), biomarkers to identify infants at high risk of developing autism or infantile spasms (a type of seizure), and a topical drug treatment for facial growths (angiofibromas).