Pediatric Tuberous Sclerosis (TSC)

Pediatric Tuberous Sclerosis (TSC)

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Summary

Tuberous sclerosis (TSC) is a genetic condition that causes benign (noncancerous) tumors to grow in the brain and on other parts of the body, such as the skin, brain and kidneys.

Expanded Overview

Also called tuberous sclerosis complex, tuberous sclerosis causes benign (noncancerous) tumors to grow in many parts of the body. This is a rare, genetic (present at birth) condition. In most cases, tuberous sclerosis is diagnosed shortly after birth or during childhood. In very mild cases, however, the condition can go undiagnosed until the individual is an adult. 

The signs and symptoms of tuberous sclerosis vary — from patches of light-colored skin to seizures or behavior problems — depending on where the lesions develop. If lesions are in the brain, seizures are common. While there is no way too predict the course or severity of the disease, with appropriate treatment, many children who have tuberous sclerosis lead full, productive lives.

The Epilepsy Center at Children’s Health is the first program in the country to be certified by the Joint Commission, the nation’s preeminent standard-setting accrediting and certifying regulatory body in healthcare. We are also a Level 4 Epilepsy Center, providing the highest level of treatment for children with epilepsy. That means we have experience identifying Tuberous Sclerosis, and in researching the latest advances in treatment for the condition.

Our interdisciplinary medical team, which includes genetic counselors, has the experience to not only comprehensively diagnose children with this condition, but we remain the area’s only center to perform the most advanced procedures and therapies for the treatment of epilepsy.

Because this condition affects your child and your family, you will be glad to know we provide care for the whole family, including education and support. In addition, the Epilepsy Center works with referring physicians and area Emergency Departments to:

  • Provide seizure safety education programs
  • Expedite appointments in order to get your child evaluated quickly

Symptoms

The signs and symptoms that a child with this condition experience vary widely, based on where the tumors are and how severe the condition is. The hallmark of this condition is non-cancerous tumors or other lesions that grow throughout the body – most commonly in the brain, kidneys, heart, lungs and skin. 

Other symptoms include:

  • Behavior problems, such as hyperactivity, rage outburst or aggression
  • Developmental delays, including intellectual disability or learning disabilities
  • Eye problems, such as lesions on the retina (tissue at the back of the eye) 
  • Heart problems, such as lesions that usually shrink over time
  • Kidney problems, such as lesions that eventually affect kidney function
  • Lung problems, such as lesions that can cause shortness of breath or coughing
  • Seizures 
  • Skin abnormalities, such as patches of light-colored skin, areas of thickened skin, or growths under or around the nails

Treatment

Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up. There is no cure for TSC, although treatment is available for a number of the symptoms, including medication management, intervention programs, school services, occupational therapy, and surgery for skin lesions. With appropriate treatment, many children can lead productive lives and enjoy a normal life expectancy.

If your child has seizures, it is important to begin the right treatment, as quickly as possible. Untreated epilepsy can increase your child’s risk of serious injury from seizures. Seizures can also put your child at social and academic disadvantage.

For most children with Tuberous Sclerosis, medication can control seizures. If seizures happen so often that they reduce your child’s quality of life, surgery may be necessary. Surgery can include removing the section of brain where seizures originate or implanting a small device that regulates  electrical brain activity.

Tests and Diagnosis

Tests and Diagnosis

To diagnose Tuberous Sclerosis, your child will likely be evaluated by several different specialists, including those trained to diagnose and treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). These doctors will likely order a number of tests to diagnose tuberous sclerosis.

If your child has had seizures, testing may include an electroencephalogram (EEG) to determine where in the brain the seizures are coming from. An EEG is performed by placing electrodes on the scalp and recording the electrical activity of the brain.

FAQs

FAQs

What causes Tuberous Sclerosis?

Tuberous Sclerosis is a rare genetic condition that happens before a child is born, and there is no known cause.

How does Tuberous Sclerosis relate to epilepsy?

Tuberous Sclerosis can result in brain lesions, which can affect the nerve cells in the brain and cause seizures.

What is epilepsy?

Epilepsy is a condition that affects how the nerve cells in the brain communicate with each other. When the normal electrical activity in the brain interferes with this communication process, seizures can occur.

What are the symptoms of a seizure?

The epilepsy symptoms most people recognize are shaking (called convulsions) combined with the body getting rigid, clenching the jaw, and biting the tongue. These are called tonic-clonic seizures and many people still know them as grand mal seizures. But some seizures are barely noticeable. Children may stare into space, stop talking abruptly and then start talking again, or start repetitious movements like chewing their lips or moving a hand. These types of seizures are called absence seizures, which used to be known as petit mal seizures. Sometimes a child may experience smelling something that isn’t there, numbness or a tingling sensations before the seizure. These are called auras.

What should I do while my child is having a seizure?

If the seizure is small twitching or staring, they should come out of it easily. For convulsions, make sure your child is in a chair that they can’t fall out of or lying on the floor with a pillow under their head. Turn their head to the side, but NEVER try to put anything into their mouth. Do not shake or hit them or shout at them. If the seizure lasts for more than five minutes or seems violent, call 9-1-1.

After a seizure, your child may be confused, foggy or tired. If they want to lie down, let them.

What kind of tests are there for Tuberous Sclerosis?

To diagnose Tuberous Sclerosis, your child will likely be evaluated by several different specialists, including those trained to diagnose and treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). There are a number of tests, including imaging and blood work, that will help diagnose the condition and the seizures.

How is Tuberous Sclerosis treated?

Because a major complication of Tuberous Sclerosis is epilepsy, treatment is focused on controlling the seizures. There are several different types of medication that can successfully treat seizures. Surgery can also help by either removing the section of brain where seizures originate or implanting a small device that regulates electronic brain activity.

Where can I find a support group?

Our Epilepsy Center will provide you with resources to help both you and your child. The Resources link on this webpage is also a good source for more information about epilepsy and support groups.

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