Tuberous sclerosis, or Bourneville disease, is a rare genetic disorder characterized by the abnormal growth of benign tumors in various organs of the body such as the brain, kidneys, eyes, lungs, heart and skin, causing symptoms such as epilepsy, developmental delay or cysts in kidneys, depending on the affected region.
This disease has no cure, but can be treated with medication to reduce symptoms, such as anti-seizure medications, for example with sessions of psychology, physiotherapy or occupational therapy, in order to improve the quality of life.
There is yet another disease that causes similar symptoms with the growth of tumors in the body, however, it only affects the skin and is known as neurofibromatosis.
Main symptoms
Symptoms of tuberous sclerosis vary depending on the location of the tumors:
1. Skin
- Light spots on the skin;
- Growth of skin under or around the nail;
- Face lesions, similar to acne;
- Reddish patches on the skin, which may increase in size and thicken.
2. Brain
- Epilepsy;
- Delay in development and learning difficulties;
- Hyperactivity;
- Aggressiveness;
- Schizophrenia or autism.
3. Heart
- Palpitations;
- Arrhythmia;
- Feeling of shortness of breath;
- Dizziness;
- Fainting spells;
- Chest pain.
4. Lungs
- Persistent cough;
- Sensation of shortness of breath.
5. Kidneys
- Urine with blood;
- Increased frequency of urination, especially at night;
- Swelling of hands, feet, and ankles.
Generally, these symptoms arise during childhood and the diagnosis can be made through genetic tests of karyotype, cranial tomography and magnetic resonance imaging. However, there are also cases where the symptoms can be very mild and go undetected into adulthood.
What is the life expectancy
The way tuberous sclerosis develops is very variable, it may only show few symptoms in some people or become a major limitation for others. In addition, the severity of the disease also varies according to the affected organ, and when it appears in the brain and heart is usually more severe.
However, life expectancy is often high, as it is rare for complications to arise that could put life at risk.
How is the treatment done?
The treatment of tuberous sclerosis is directed to decrease the symptoms of the disease and improve the quality of life of the patient. In this way, it is important that the person be monitored and have regular consultations with the neurologist, nephrologist or cardiologist, for example, to indicate the best treatment.
In some cases the treatment can be done with anticonvulsant drugs, such as Valproate semisodium, Carbamazepine or Phenobarbital, to prevent seizure seizures, or other medicines, such as Everolimo, which prevents the growth of tumors in the brain or kidneys. example. Even if the tumors grow on the skin, the doctor may prescribe the use of an ointment with Sirolimus to decrease the size of the tumors.
In addition, physiotherapy, psychology, and occupational therapy are essential to help the individual cope better with the disease and have a better quality of life.
