Tuberous Sclerosis Complex (TSC)
systems throughout the body, including the brain, kidney, eyes, skin, heart and lungs. These noncancerous growths can create serious health issues by interfering with the function of these organs. In children, symptoms can often include intellectual disability, seizures, epilepsy and developmental delay.
What causes TSC?
TSC is a genetic condition. It can be inherited from either parent, but for half of TSC patients it is the result of a spontaneous change in one of the genes that causes TSC.
The genes that cause TSC are called TSC1 and TSC2 genes. These genes are instrumental in inhibiting a protein called mTOR. When not properly inhibited, this protein can lead to the development of growths throughout the body’s organs.
What are the symptoms of TSC?
TSC affects every patient differently. No two children with TSC share the same symptoms, not even identical twins.
Tumors associated with TSC are not cancerous, but they can lead to a wide variety of serious health concerns, especially if they are not treated early. Growths in major organs can lead to problems with the effectiveness of those organs. This is especially true of the brain, and TSC-related growths in the brain can cause intellectual disability, seizures, epilepsy and developmental delay.
TSC can also cause growths in the heart in utero. These are not usually life-threatening, but they can now be seen on ultrasounds and are often the first sign of TSC in children before they are born.
How do we treat TSC?
It is vital to seek treatment early because this can help prevent severe conditions associated with the disorder. Because TSC affects each child differently and because it can affect a variety of organs, every care plan is going to be unique. This is why it is so important to work with specialists who have the experience and expertise required to best serve your child.
Some patients are able to minimize growths through the use of motor inhibitors, a relatively new drug that helps to replace the function that is lost through the genetic abnormality. Our experts are experienced in determining the best application of this drug while minimizing its side effects.
We also may provide other surgical and pharmaceutical therapies to treat the symptoms of TSC. These can include medications and other treatments to control seizures. Early treatment of seizures may help arrest some of the more severe neurologic symptoms of the disease.
What research are you conducting?
We are a part of the prevent trial, which stands for “preventing epilepsy using vigabatrin in infants with tuberous sclerosis complex.” This clinical trial allows us to give preventative anti-epileptic medication to infants who have been diagnosed with TSC but who have not yet had seizures. We also are researching early use of mtor inhibitors and the use of advanced electrophysiologic testing techniques to determine who is the best candidate for surgical interventions.
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