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Tuberous Sclerosis

Tuberous sclerosis derives its name from the tuber-like growths on the brain which calcify with age and become hard or sclerotic.

These lesions show up as small white patches on a CT-brain scan in most patients with TS. If they have not yet calcified (perhaps in a very young baby) they may not be seen on a CT-scan, but will be seen on MR images.

Abnormal TS growths can affect almost any other organ of the body (including the skin, eyes, heart, kidneys and lungs) but they may cause little in the way of problems. Doctors find them helpful, though, in confirming the diagnosis.

There is also some relationship between autism and Tuberous Sclerosis, a genetic condition that causes abnormal tissue growth in the brain and problems in other organs. Although Tuberous Sclerosis is a rare disorder, occurring less than once in 10,000 births, about a fourth of those affected are also autistic.

Scientists are exploring genetic conditions such as Fragile X and Tuberous Sclerosis to see why they so often coincide with autism. Understanding exactly how these conditions disrupt normal brain development may provide insights to the biological and genetic mechanisms of autism.

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