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Saturday, February 5, 2011

TUBEROUS SCLEROSIS (Bourneville disease)

Tuberous sclerosis is an autosomal dominant disorder involving multiple systems.
Clinical manifestations include mental retardation, epilepsy and multiple cutaneous stigmata (white leafy macule, adenoma subaceum). Benign tumors (tubers) are found in such organs s brain (visible as characterized calcification on skull X-ray), kidneys, fundi (retinal phakomas), heart (rhabdomyoma), bones ( areas of sclerosis and rarefaction on X-ray), lungs, liver and spleen.

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