Tuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with a birth incidence of approximately 1 in every 6000. It is estimated that one to two million people worldwide are affected. TSC causes the growth of non-malignant tumours to form in vital organs. TSC is also the leading genetic cause for epilepsy and autism. TSC is : Complex and variable • Physical – Tumours in the brain, heart, lungs, kidneys, skin and eyes – Seizures – Skin problems and facial angiofibromas – Ungual fibromas, gum fibr
What is Tuberous Sclerosis Complex? Tuberous Sclerosis Complex (TSC) is a rare, genetic condition causing the growth of benign tumours (non-cancerous) in various organs of the body, mainly the brain, kidneys, heart, eyes, lungs and skin. When it affects the central nervous system this can result in a combination of symptoms including seizures, developmental delay, cognitive impairment, autism spectrum disorder and behavioural problems; all these aspects strongly impact the quality of life of those affected
Cortical tubers Cortical tubers are found on the surface of the brain and appear as an abnormal mass of tissue. These areas of the brain contain abnormal cells and are best visualised by Magnetic Resonance Imaging (MRI) of the brain. It is thought that tubers form during foetal development, so the number of tubers in the brain will stay the same throughout the life of the individual with TSC. They can sometimes be detected by MRI as early as 20 weeks gestation. Tubers can calcify or undergo cystic degenerat
Asociación Española de Esclerosis Tuberosa |