March 19, 2009

Tuberous sclerosis

Tuberous sclerosis is an autosommal dominant condition that leads to tumor development in the skin, brain, kidney, and/or heart. The disease is quite variable, with some affected individuals so mildly affected that it often goes undiagnosed. Some people with the condition have developmental delay, mental retardation and autism. Tumor growth in the brain or spine are the most serious risks, and renal disease can also lead to early death. Two causative genes, TSC1 and TSC2, have been identified.

Posted by esparkhu at 11:26 AM