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Tuberous sclerosis (TS), also known as tuberous sclerosis complex (TSC ) due to the complexity of the condition, is difficult to explain because it affects individuals in many different ways and with varying degrees of severity. Some children and adults with TS remain largely unaffected and go through life free from symptoms, whilst others who are less fortunate experience one or more of a range of symptoms.
Tuberous sclerosis is a genetic disorder with about one third of cases having been inherited from a parent. There is a 50% risk of someone with TS passing it on to any child they may have, but only approximately one third of cases are thought to run in families, with the remainder being sporadic cases.
What is 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.
1. Tuberous sclerosis association