Tuberous sclerosis complex, abbreviated TSC and also called Bourneville disease, is a hereditary disease. One can experience abnormalities in the skin, kidneys, brain and elsewhere. Autism, intellectual disability, growths in the brain or kidneys and spots on the skin are the most common symptoms. Read more about the causes, symptoms and treatment of TSC below.
Tuberous sclerosis complex
In the Netherlands, approximately 2000 people suffer from Bourneville disease. The disease is a very rare dominant hereditary condition. Dominant means that any child of the carrier of the disease can also develop the condition. The chance of having a child with the disease if you are a carrier yourself is therefore 50%.
Cause
There are two genes that may be the cause of this disease. 80% of people who have the disease are the first in the family. In them, the mutation occurred in their DNA for the first time. The mutation can occur on the 9th chromosome or on the 16th chromosome. These mutations in the DNA cause the cells to develop differently. After all, all cells grow based on the information from the DNA. These abnormally developed cells can have several consequences. These consequences are classified under the disease TSC.
Symptoms
The consequences of the mutations of the genes on chromosome 9 and chromosome 16 can be very diverse. One patient hardly experiences any symptoms, while the other patient has been seriously disabled by the disease from an early age. As mentioned, the disease can be experienced in different parts of the body.
Brain
Epilepsy may indicate Bourneville disease. Patients often have epilepsy from an early age, even as a baby. In addition, patients sometimes also have an intellectual disability in combination with autism. The disease can also be recognized by small growths in the brain. These growths are usually benign.
Kidneys
Between 55 and 75 percent of people who suffer from tuberous sclerosis complex have kidney problems. The patient then has angiomyolipomas. Although these are benign tumors in the kidneys, they can become extremely large. Unfortunately, the tumors are difficult to remove because they bleed very quickly.
Skin
The first symptoms of the disease mainly occur on the skin. White spots can be seen on the skin, even in newborn babies. The white spots are mainly located on the trunk and limbs, but can also be seen on the face later in life. Here the spots are usually red and very small. In a subsequent stage, these spots can turn into small red bumps.
Diagnosis
The disease can be diagnosed in the hospital. This is done on the basis of the phenomena that are observed. There are main symptoms and side effects. The main symptoms are, for example, growths in the brain, spots on the skin and angiomyolipomas in the kidneys. Side effects are the smaller symptoms that are also sometimes present with the disease. If two main symptoms are present or one main symptom and two side effects, the diagnosis can be made. In addition, additional research can be performed with ultrasound, an MRI scan, or a CT scan.
Therapy
Unfortunately, there is no treatment to cure Bourneville disease. However, the symptoms can be treated. For example, epilepsy can be treated in a patient with the disease. In addition, skin problems can also be addressed using lasers, medication can be prescribed for behavioral problems and some tumors can be surgically removed.There is a good chance that a treatment will be available in the future to cure the disease. The medical world continues to develop in recent years and this may mean that an earlier diagnosis can be made and more targeted treatment.