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Dr. Elizabeth A. Thiele

Elizabeth A. Thiele, MD, PhD

Dr. Elizabeth Thiele: So the brain is one of the most commonly affected organ systems in TSC. And about 90 to 95 percent of individuals with TSC will have brain involvement. What we look for in the brain is three main features, cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. Cortical tubers, which is how the disorder was named, are regions of the brain that develop unusually. You do not grow new cortical tubers. The ones you have you're born with, but sometimes as a child ages, due to maturation of the brain, they're easier to see on subsequent imaging. The second thing we look for in the brain is a subependymal nodule, which are found lining the wall of the lateral ventricles, or under the ependymal lining, are subependymal nodules. We follow those throughout childhood, because on occasion, they can develop into a subependymal giant cell astrocytoma, which we think can develop in 5 to 10 percent of individuals with tuberous sclerosis complex. If a child does develop a subependymal giant cell astrocytoma, or SEGA, the problem is that it forms a functional block of the channel the spinal fluid has to flow through. So it is a tumor, but its not cancer. And if a child does develop a SEGA, particularly if they're symptomatic, then the child will need surgery. So we follow children with TSC frequently during childhood. Here we follow them on an annual basis, with MRI scans, looking for the growth of a subependymal nodule into a subependymal giant cell astrocytoma. Once an individual is in their early twenties, we no longer need to do that, because they will have lost the risk of growing.