Tuberous Sclerosis

Tuberous sclerosis complex is a genetic condition that affects between 1 in 6,000 and 1 in 10,000 individuals. It is estimated that approximately 50,000 Americans carry this diagnosis. This condition results from a mutation in one of two identified genes, TSC1 and TSC2. These genes encode proteins that are involved in a very important biological signaling pathway that affects the growth and protein synthesis of many cells in the body. Tuberous sclerosis affects individuals by causing benign tumor growth in multiple organs of the body, specifically in the brain, the skin, the kidney, the lungs and the heart. Because of this, it is very important that individuals who are diagnosed with TSC be cared for at comprehensive centers that incorporate medical specialists from a number of different specialty areas.

With respect to the brain, tuberous sclerosis complex is a cause of epilepsy, autism, and developmental or neurocognitive delays. Although approximately 33% to 40% of individuals with this condition are intellectually normal, many TSC patients present during infancy with severe medically refractory epilepsy.

It well known that seizures that occur in patients with this disease are very often difficult to control with anti-epileptic medication. Additional treatment options include ketogenic diet, vagal nerve stimulator implantation, and epilepsy surgery in properly selected individuals. TSC is one of the common known causes of autism, a condition otherwise know as pervasive development delay and which has received a great deal of attention in the last several years.