Rare disease that affects the brain: The Tuberous Sclerosis


The Tuberous Sclerosis is a genetic disorder which results in the development of benign tumors in vital organs such as the heart, eyes, brain, kidneys, lungs and even the skin. The growth of these tumors reveals a strong threat because it directly affects the function of the affected organs.

Almost all patients with tuberous sclerosis show signs of the disease in the brain, the most frequent manifestations are epilepsy or seizures. It is estimated that worldwide, between 75 and 90 percent of these patients undergo episodes of epilepsy during their lifetime. Experts gather in Portugal to discuss this disease is a rare genetic disorder, but very serious.

“We also have the case of brain and kidney benign tumors that are also very frequent and severe as it put the lives of patients at risk”, explains Micaela Rozenberg, president of the Tuberous Sclerosis Association in Portugal (AETN) in statement.

“Tuberous sclerosis can cause many types of brain lesions as, for example, abnormal mass of tissue that are in the surface of the brain; subependymal nodes, which are nodes with usually less than 1 centimeter; and astrocytomas giant cells, also known as giant cell tumors. the latter develop in about 15 percent of patients and manifest themselves in the first 20 years of life”, explains the president of AETN.

“Some people have all injuries, while others do not have brain involvement. However, it is known that almost 100 percent of patients show signs of the disease in the brain”, concludes Micaela Rozenberg.
Between day 3 and 5 of November, the AETN will hold the International Conference on Research in Tuberous Sclerosis and the event is held for the first time in Portugal, in the Champalimaud Foundation, Lisbon.
The conference will bring together experts from around the world in the area of tuberous sclerosis and also patients worldwide.
During this event, will also be revealed the results of esTUpt, an epidemiological study of tuberous sclerosis in Portugal, responsibility of the National School of Public Health at the Universidade Nova de Lisboa.