Characteristics/Symptoms

Not all people with TSC will have all of these features.

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Characteristic brain issues include cortical brain tubers and subependymal nodules.

  • Cortical brain tubers can be found in different parts of the brain and may act as a seizure focus.
  • Subependymal nodules occur in 90% of people with TSC and most remain dormant throughout life, but can cause problems if they obstruct the flow of the fluid around the brain.
  • Subependymal nodules develop into subependymal giant cell astrocytomas (SEGA) in 6-14% of people with TSC and are one of the leading causes of medical problems and death.
  • Cortical brain tubers and subependymal nodules are thought to cause seizures, or affect learning, mood, or behavior.
  • Seizures occur in 60-90% of people who have TSC. Young children may have infantile spasms which are clusters of seizures that resemble a startle reflex. Medications can help treat these seizures and help reduce impact on function.

  • About 80% of children with TSC have a renal lesion by 10.5 years.
  • Kidney growths are common in people with TSC.
    • These growths can cause problems with kidney function. They may be life threatening in some cases.
    • An increase in blood pressure, back pain, or blood in urine can be a sign of kidney tumor growth.

  • Benign tumors (known as rhabdomyomas) that are usually present at birth and do not cause a problem unless they are in a spot that obstructs the flow of blood or causes a problem with the pacemaker. These benign tumors do not grow and may become smaller over time and may not be detectable by ultrasound as an adult.
  • Arrhythmias (irregular heartbeats) are usually present early in life and are treatable. Rarely, the irregular heartbeat may persist.

  • Tumors may occur in lungs (Lymphangioleimyomatosis (LAM)). Mean age of diagnosis of LAM is 28 years. However, these can occur in teenagers.
  • More common in females than males (40% of women have LAM0
  • Signs:
    • Shortness of breath after mild exercise
    • Cough
    • Lung collapse

Benign eye tumors (Hamaratomas):

  • Don't usually cause symptoms
  • Don't typically cause visual loss or problems

  • Gum tumors and dental pits can be extensive in the adult teeth.

    • Intellectual disability/developmental delay occurs in roughly 50% of individuals with TS.
    • Early diagnosis and intervention is key.

    • Attention deficit hyperactivity disorder (ADHD)\
    • Behavioral and psychiatric disorders, often part of the autism spectrum disorders (ASD)
      • About 25-60% are diagnosed with ASD