Bourneville's Disease Treatment
Modified on Jun 14, 2017
What Is Bourneville's Disease?
Named for its original identified, Bourneville’s disease is today more commonly known as tuberous sclerosis. The disease is a rare genetic disorder that causes lesions or small tumors on many different parts of the body. The lesions are noncancerous but can affect several different parts of the body including the skin, kidneys, and brain. The typical symptoms of the disease vary and can be as minor as slight skin discolorations or as severe as seizures and intensive behavior problems. The main factor affecting symptom presentation is the location of the lesions. Additional symptoms of the disease include kidney problems and lung issues.
As Bourneville’s disease is genetic, it is caused by mutations in the TSC1 or TSC2 gene. In a healthy individual, these genes control the growth of cells; however, in an individual with tuberous sclerosis, the mutations of these genes cause excessive cell division. The disease is often detected in the early years of an individual’s life – infancy or early childhood. Some cases exhibit such mild cases, though, that the condition goes undiagnosed until adulthood or is never identified.
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