Tuberous sclerosis complex (TSC)
Tuberous sclerosis is a genetically determined disease from the group of phacomatoses, with a wide range of clinical manifestations, accompanied by the development of multiple benign tumours (hamart) in various organs, including the brain, eyes, skin, heart, kidneys, liver, lungs, gastrointestinal tract, endocrine and bone systems. Tumours, gradually progressing and increasing in size, disrupt the functions of organs, sometimes leading to fatal consequences. This is a chronic progressive life-threatening disease that leads to a reduction in life expectancy and disability of patients. Patients with tuberous sclerosis (TS) have tumours or abnormalities that manifest at different ages and in different organs, including in the
- Brain;
- A heart;
- The eyes;
- The kidneys;
- Lungs;
- Skin.
The leading Israeli clinic Tel Aviv Medical Clinic employs true professionals who have been involved in the detection and treatment of genetic diseases for over 10 years. We use modern equipment and unique methods of therapy. Our employees undergo special training annually at leading foreign institutions. The clinic has established rates at the state level.
Symptoms
If you notice the appearance of the following symptoms, you should immediately seek qualified help:
- infantile spasm;
- mental retardation;
- autism;
- learning disabilities;
- subcutaneous nodules;
- angiofibroma of the face;
- multiple retinal hamartomas;
- multiple or single rhabdomyoma of the heart;
- lymphangioleiomyomatosis of the lungs;
- multiple kidney cysts;
- congenital shagreen spots and others.
A qualified specialist will carry out the necessary diagnostics and select the optimal treatment regimen taking into account the general condition of the patient and the characteristics of the development of pathology.
Diagnostics
At the reception, the doctor will conduct an examination and ask the patient about complaints. Ophthalmoscopy is performed to check for plaques on the retina. The presence of pathology can be suspected if, with fetal ultrasonography, cardiac fibroids are determined or in the case of infantile spasms. Cardiac or craniocerebral manifestations can be determined during a routine prenatal ultrasound. To confirm the diagnosis, an MRI or ultrasound of the affected organs is necessary. In addition, the doctor conducts a genetic test.
Symptomatic treatment or, if CNS tumours grow, everolimus is prescribed. Patients should be examined regularly to check for complications.