History of the disease

History of the disease

Tuberous Sclerosis appeared to the medical profession in the beginning of the 19th century because of the cutaneous lesions on the face. In 1862, a more complete case was presented by doctor Von Reckinghausen who identified cardiac and brain tumors in a newborn child. However, it is the French doctor Désiré Magloire Bourneville who has first characterized the disease in 1880. The eponym naming of  » Bourneville Disease » or « Bourneville Tuberous Sclerosis » was thus given to the disease. 

Sclérose Tubéreuse de Bourneville

Désiré Magloire Bourneville

« Désiré Magloire Bourneville  » doctor, free thinker, deputy, republican activist: Bourneville’s career and life are a synthesis of the links which unite medicine, politics and society in France in the second half of the XIXth century … Bourneville’s big affair of his life is good the secularization of the Hospitals in  Paris and the creation of schools with laic nurses. Bourneville, the « benefactor of the mental arrears », the neurologist … His contribution is immense « . From « Bourneville Slérose Tubéreuse » – J. Signoret / J. Pear tree – Ed. Flammarion.

In 1908, the neurologist Vogt established a more complete diagnosis from a larger number of symptoms: epilepsy, mental retardation, angiofibromes on the face …

The symptoms caused by this disease were regularly counted and added to the clinical diagnosis. This disease, such as we know it today, was described by doctor Gomez in 1979. The invention of Ultrasounds, CT scan and MRI, allowed the doctors to examine patients’ internal organs alive and so largely improved the capacity of diagnosis.

Two genetic locus were associated to Tuberous Sclerosis, TSC 1 and TSC 2, discovered respectively in 1997 and in 1992. Which is very recent ! This allowed the implementation of a diagnosis test. Proteins associated with TSC 1 or TSC 2, hamartine and tuberine, work as a complex group within the mTOR cellular pathway. The importance of this cellular way, in particular in the therapies of the cancer, facilitates medical research dedicated to the Tuberous Sclerosis.

In 1990, Vigabatrin obtained a market approval in the treatment of infantile spasms in Europe and is now considered as a first line treatment. In 2005, new  treatments with rapamicyne analogs appeared and demonstrated a reduction of tumors in animal models. Other treatments are under development.

The understanding of this complex disease is relatively recent and goes back only to twenty years. Recent and significant therapeutic advances are in development. Big pharmaceutical companies are involved in the identification of new therapies, even if there is still no treatment to cure the disease

 

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