Tuberous sclerosis is a condition that causes benign tumors to grow in certain parts of the body, especially the brain. This condition is caused by a genetic disorder that can be passed from parent to child.
Tuberous sclerosis is a very rare disease. Symptoms can be different for each patient, depending on the location of the tumor growth. Apart from the brain, these benign tumors can also develop in the kidneys, heart, lungs and skin.
Causes of Tuberous Sclerosis
Tuberous sclerosis is caused by genetic changes or mutations in the genes that control cell growth in the body. These mutations cause cells to grow uncontrollably and trigger the formation of tumors in various parts of the body. The presence of this tumor will affect the function of the affected organ.
Genetic mutations in tuberous sclerosis generally occur spontaneously (not inherited) and only occur when the sufferer is an adult. Meanwhile, 30% of tuberous sclerosis cases occur due to hereditary factors.
Tuberous sclerosis sufferers have a 50% risk of passing this condition to their children with each pregnancy.
Gejala Tuberous Sclerosis
Tuberous sclerosis symptoms can be mild or severe, depending on the location of the tumor and its severity. The symptoms of this disease generally develop slowly so that they are only seen when children are getting bigger or when they are adults.
Here are some of the symptoms of tuberous sclerosis based on the organs affected:
Tuberous sclerosis in the brain can cause symptoms in the form of:
- Behavioral disorders, such as anxiety, hyperactivity and aggressive behavior, emotional instability and irritability, and tend to withdraw from the social environment
- Impaired communication and interaction with the surrounding environment, such as autism or ADHD
- Barriers to physical and intellectual development, such as disturbances in understanding something
Symptoms that can appear due to tuberous sclerosis in the kidneys include nausea and vomiting, difficulty urinating, and swelling of the feet, legs or hands due to fluid buildup. This symptom appears when kidney function is impaired and has the potential to cause kidney failure .
Symptoms of tuberous sclerosis in the skin are thickening in several areas of the skin, light-colored patches appearing, tissue growing under or around the nails, and small pimple-like bumps that appear on the face.
Disturbances in the heart due to the influence of tuberous sclerosis can be characterized by chest pain , shortness of breath, palpitations , and a skin color that appears blue ( cyanosis ).
Tuberous sclerosis in the lungs can cause coughing and shortness of breath, especially when doing strenuous activities or playing sports.
Disorders due to tuberous sclerosis in the eye are characterized by impaired vision due to the appearance of white spots on the retina.
When to see a doctor
Immediately consult a doctor if you experience one or more of the symptoms of tuberous sclerosis. If you or your partner suffer from tuberous sclerosis, or have a family with tuberous sclerosis, consult your obstetrician before planning to have children.
Symptoms of tuberous sclerosis in children can be detected from birth. If your child shows the symptoms of tuberous sclerosis described above or you feel something is different about your child, contact the pediatrician as soon as possible.
Diagnosis Tuberous Sclerosis
To diagnose tuberous sclerosis, the doctor will ask about the patient's symptoms and medical history in his family. Next, the doctor will carry out a physical examination, including the eyes and skin, as well as examination of nerve function.
Follow-up examinations were carried out to detect the location of the tumor and confirm the diagnosis of tuberous sclerosis. The type of inspection carried out can be in the form of:
- MRI , to get a more detailed picture of the condition of the brain or kidneys and detect the location of tumor growth
- Ultrasound and CT scans , to detect the presence of tumors growing in the kidneys, heart or lungs
- Cardiac echo , to detect abnormalities in the heart and check for tumor growth in the heart
- Electroencephalography (EEG), to detect abnormalities in brain function.
Genetic testing can also be done to diagnose tuberous sclerosis. However, this test is not always reliable because the process is complicated and takes a long time. Therefore, gene testing is usually done as a preventive measure against tuberous sclerosis.
Pengobatan Tuberous Sclerosis
Treatment of tuberous sclerosis will be adjusted to the location of the tumor and the symptoms that appear. The types of treatment that can be done are:
Medicines are used to treat the symptoms and complications that arise. The type of drug given will be adjusted to the conditions experienced by the patient, including:
- Anticonvulsants or anticonvulsants, such as benzodiazepines and phenobarbital , to control seizures
- Everolimus, to suppress the growth of tumors in the brain and kidneys that cannot be removed surgically
- Sirolimus , to treat and suppress tumor growth on the skin
Surgery is done to remove tumors that affect the function of certain organs, such as the kidneys or heart. Surgery is also performed to control seizures caused by brain tumors and cannot be treated with drugs.
If the tumor is in the kidney, surgery is performed by cutting off or blocking the blood flow that supplies blood to the tumor.
Other supporting therapies, such as physiotherapy , occupational therapy , or speech therapy , can be done to help people with tuberous sclerosis of the brain. The goal of this therapy is to improve the child's ability to perform daily activities.
Please note, there is no drug that effectively cures tuberous sclerosis. Therefore, the doctor will regularly check organ function to monitor tumor growth and control the symptoms that appear.
Tuberous Sclerosis complications
Tuberous sclerosis sufferers are at high risk of complications, the types of which depend on the location and size of the tumor. Some of the complications that can occur are:
Tumors that appear in the brain can cause a buildup of cerebrospinal fluid in the cavities of the brain ( hydrocephalus ). This condition can cause pressure in the brain to increase and the size of the head to enlarge.
This condition occurs when a tumor that develops in the kidney gets bigger and causes bleeding, triggering kidney failure.
Tumor growth in the heart can cause obstruction to blood flow to and from the heart, as well as arrhythmias .
Impaired lung function
Tumors that develop in the lungs can cause a buildup of fluid in the lung organs and lead to impaired lung function.
Benign tumors that grow in the body of people with tuberous sclerosis have a high risk of developing into cancer.
Tumor growth in the eye can inhibit the function of the retina so that it interferes with vision and causes blindness . Even so, this complication is rare.
Pencegahan Tuberous Sclerosis
The way to prevent tuberous sclerosis is not yet known. However, if you and your partner plan to have children and have a family who suffers from tuberous sclerosis, it is recommended to carry out consultations and genetic examinations.
Genetic examination is useful for knowing the risk of developing tuberous sclerosis in children and anticipating it.