Tuberous Sclerosis Complex (TSC) is a multi-organ disorder, which is characterized
by the development of benign malformations and specific neurological and
psychiatric symptoms. It was first formally described by the neurologist Bourneville
in 1880, based on a female patient who presented with epilepsy, skin tags, facial
rash, and sclerotic areas in some of the cerebral convolutions on pathological
examination of the brain.
TSC is a relatively common genetic syndrome with a birth incidence of 1:60001.
Although all major organs are susceptible to TSC, the most frequently affected
are the brain, skin, kidneys, heart, lung and eye. None of the manifestations
associated with TSC is pathognomonic for the disorder and accordingly, diagnosis
is made based on the presence of combinations of major and minor disease
features, as revealed by clinical, radiological and pathological examination.http://repub.eur.nl/res/pub/31631/GOORDEN_thesis_kaft.pdf
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