It is a genetic disease, whose alteration of two genes (TSC1 and TSC2) provokes a disordered growth of benign tumors all around the body, such as in the skin, the brain, the nervous system, the kidneys, the heart, the eyes and the lungs.
In the case of the brain, this disease generates brain cortex tumors called tubers, name after its close similarity to the shape of tubercles or roots. Other tumors called astrocytomas might even block the flow of the cerebrospinal fluid and provoke an increased intracranial pressure. If these tumors get bigger, they could even block the fluid of the brain and provoke hydrocephalus.
Around 80% of the patients with sclerosis develop highly severe epilepsy, most of the times they show drug-resistant, for that reason they might be evaluated for surgery. The repetition of epileptic seizures may result in psychomotor regression or retardation leading to attention deficit or autism.
This syndrome, reported as a rare disease, has a high genetic component (it can be inherited from the father or the mother). However in most of the cases, it occurs due to spontaneous mutations.
There is no specific treatment for the tuberous sclerosis. Because of this is a disease which impacts differently in every person, the treatment is based on the symptoms that the patient presents: