Tuberous sclerosis complex : establishing the correct diagnosis and treatment

Yves Pirson¹, Thien-Anh Ho¹, Nathalie Demoulin¹, Nathalie Godefroid², Valérie Dekeuleneer³, Kenou van Rijckevorsel⁴, Marie-Cécile Nassogne⁵, Riëm El Tahry⁴, Yves Sznajer⁶ Published in the journal : January 2017 Category : Rare Diseases

Summary :

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the development of hamartomas in several organs, including the brain, kidney, and skin.

TSC diagnosis is based on consensual criteria, with genetic diagnosis (mutation in the TSC1 or TSC2 gene) becoming increasingly available.

Inhibitors of the mTOR pathway have revolutionized the treatment of the disease, and their indications have been subject to international recommendations published in 2013. Since recently, the mTOR pathway inhibitor everolimus is being reimbursed in our country when prescribed for patients suffering from TSC with rapidly progressive CNS or kidney involvment.

Key Words

Tuberous sclerosis of Bourneville, renal angiomyolipoma, sirolimus, everolimus, renal embolization