Tuberous Sclerosis

Tuberous sclerosis is a rare inherited disease that is associated with excessive formation of benign tumors in a number of tissues. Although the tumors are benign, their growth may interfere with the function of tissues and organs and that is why some forms of the disease may be evaluated as potentially threatening. The disease occurs in both sexes.


The disease is an inherited genetic mutation that affects genes involved in the control of cell division. The organism loses control over the cells and this causes their excessive proliferation and formation of tumors.


The symptoms depend on which organs are affected. Most often these include the brain, kidneys, skin, lungs and the heart muscle. Brain tumors can cause personality changes, impaired intelligence, disorders of learning and concentration, epileptic seizures and obstruction of the flow of the cerebrospinal fluid with hydrocephalus in children and intracranial hypertension. Under the skin, the tumors form lumps, bumps and reddish spots (hemangiomas). Heart tumors may interfere with its pumping function, and cause heart failure. Renal tumors may contribute to the development of chronic renal failure. The lungs of the patients are affected with occurrence of multiple cysts that can impair lung functions. Some tumors may bleed causing presence of blood in urine and severe cases of internal bleeding.


The diagnosis is obvious in patients suffering from the above-mentioned problems who have a positive family history of tuberous sclerosis. The internal organs can be examined by various imaging techniques (ultrasound, computed tomography, magnetic resonance imaging, etc.). The heart function and heart tumors presence can be checked by the echocardiography. The exact diagnosis can be made by special genetic testing that detects the presence of certain genetic mutations.


It is not possible to cure the disease. Patients with this diagnosis should be regularly monitored in specialized clinical departments. The therapy focuses on solving the symptoms of actual damage of particular organs. Large tumors causing troubles should be removed surgically.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Sources: basic text sources