Tuberous sclerosis
Tuberous Sclerosis

Tuberous Sclerosis: Causes, Symptoms, 7 Diagnosis Tests, Treatment, and When To See A Doctor

Tuberous sclerosis is a benign tumor that grows in certain parts of the body, especially the brain. The condition is caused by a genetic disorder that can be passed down from parent to child.

Tuberous sclerosis is a very rare disease. Symptoms of tuberous sclerosis vary depending on the location of the tumor. However, the disease most often attacks the brain. In addition to the brain, benign tumors can also develop in the kidneys, heart, lungs, and skin.

Tuberous Sclerosis Causes

Tuberous sclerosis is caused by genetic changes or mutations that control cell growth in the body. These changes lead to uncontrollable cell growth and trigger the formation of tumors in various parts of the body. The presence of this tumor will affect the function of the affected organ.

This genetic mutation is passed down from parent to child. But in some cases, new genetic mutations are not inherited. These new mutations occur randomly, with no known triggers.

Tuberous Sclerosis Symptoms

Tuberous sclerosis appears at birth, but signs and symptoms do not appear immediately. Diagnosis is then given at the age of 10 years. Most parents and their children only have tumors in one limb, such as skin.

Symptoms can vary by individual, ranging from mild to severe. Severe symptoms can include learning difficulties and low intelligence, but many people can still have a normal or above average IQ. In addition, common symptoms are white spots on the surface of the skin (usually on the legs), and red bumps on the skin.

Other symptoms include rough skin on the lower back and polyps around the nails, especially toenails. Tooth enamel can tear, and seizures can appear. Nerve or physical development can be hampered. This depends on the location of the tumor in your brain or your child.

Some other symptoms or signs may not be listed above. If you feel anxious about these symptoms, consult your doctor immediately.

Tuberous Sclerosis Diagnosis

Diagnosis of tuberous sclerosis is done with genetic tests and the following tests:

  • MRI of the brain.
  • CT scans of the head.
  • Electrocardiogram.
  • Echocardiogram.
  • Ultrasound of the kidneys.
  • Eye examination.

Tuberous Sclerosis Treatment

There is no cure for tuberous sclerosis, but there are various treatments for many problems caused by the condition.


  • Epilepsy can be controlled with medications or, in some cases, surgery
  • Additional educational support can help children with learning disabilities
  • Challenging behavioral and psychiatric problems – such as autism, anxiety, or depression – can be addressed with behavioral interventions and treatment
  • Brain tumors can be removed by surgery or shrink with medications
  • Facial rashes can be treated with laser therapy or medications applied to the skin
  • The drug can control symptoms caused by decreased kidney function and can help shrink kidney tumors
  • Lung problems can be treated with treatment.

Studies have found that mTOR inhibitors, which interfere with chemical reactions necessary for tumor growth, may be a useful treatment in the future.

People with tuberous sclerosis, also need to undergo regular tests to monitor the function of organs that could be affected by the condition.

See A Doctor

When To See A Doctor?

Symptoms of tuberous sclerosis can usually be seen when the sufferer is born and become clearer with age. Consult your doctor immediately if your child has symptoms that lead to the disease at birth.

What to prepare before consulting a doctor?

Before seeing a doctor, you should prepare the following questions:

  • What causes symptoms of tuberous sclerosis in your child?
  • Is there another cause?
  • What tests are needed?
  • What are the treatment steps available?
  • Should my child see a specialist?

What will the doctor do during the consultation?

The doctor will ask the following questions:

  • When had you first noticed the symptoms of tuberous sclerosis in your child?
  • Is your child having a seizure?
  • Is your child’s growth stunted?
  • What worsens and improves your child’s condition?
  • Are any members of your family suffer from kidney failure?


Last Updated on March 24, 2021 Reviewed by Market Health Beauty Team

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