How is TSC Diagnosed?
We diagnose TSC using the following methods:
- Imaging tests such as magnetic resonance imaging (MRI), computed tomography (CT), and ultrasound
- Observation of symptoms
- Physical examination
- Electroencephalography (EEG) to assess brain activity and seizures
It's important to screen everyone with TSC early in the course of the illness for the presence of seizures. Early recognition of seizures and effective treatment may prevent or improve the developmental and cognitive problems that can arise in children with TSC and poorly controlled seizures.
How We Treat TSC
TSC lesions in the hearts of infants typically disappear on their own. People whose TSC lesions persist after birth may receive treatments such as:
Antiseizure medications are the first therapy we use to control seizures. Sometimes we need to try several different medications at different doses to find the medication that works most effectively for each patient.
Infants with TSC who have epileptic spasms may be treated with an anticonvulsant drug called vigabatrin. We may also use this drug in adults in combination with other antiseizure medications.
Studies of TSC have shown that the disease is due to problems in a molecular pathway called mTOR. Fortunately, there are now drugs being developed to target this pathway. One of them, called everolimus (Afinitor®), is already approved for treating people with TSC who have a type of brain tumor called subependymal giant cell astrocytoma (SEGA) or a kidney tumor called angiomyolipoma.
People with TSC whose seizures are not well controlled with medication may be candidates for surgery to remove the lesions (tubers) in the brain responsible for the seizures. We have experience identifying the area (focus) in the brain where seizures are starting. Our neurosurgeons use the results of sophisticated brain mapping approaches and functional MRI to remove only the tuber(s) responsible for seizures, with the goal of preserving vital functions such as speech and movement.
Generally, it may take two to three years of trying different medications before we perform surgery. But in children, we may perform the surgery sooner if we see that antiseizure drugs aren't effective. Our goal is to reduce the risk of developmental delays and cognitive impairment caused by persistent seizures.
Using special medications to control seizures and referring a child early for surgery if medication is not working can dramatically change a child's long-term neurological development.