Tuberous Sclerosis - Symptoms, causes and treatment

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 down from parents to their children

Tuberous sclerosis is a very rare disease. Symptoms can be different in each patient, depending on the location of the growth of the tumor. In addition to the brain, this benign tumor can also develop in the kidneys, heart, lungs, and skin.

Causes of Tuberous Sclerosis

Tuberous sclerosis is caused by genetic changes or mutations in 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 heredity.

Sufferers of tuberous sclerosis have a 50% risk of passing this condition on to their child with each pregnancy.

Symptoms of Tuberous Sclerosis

The symptoms of tuberous sclerosis can be mild or severe, depending on the location of the tumor and its severity. Symptoms of this disease generally develop slowly so that they are only seen when the child grows up or as an adult.

The following are some of the symptoms of tuberous sclerosis based on the affected body organ:

1. Brain

Tuberous sclerosis in the brain can cause symptoms such as:

• Behavioral disorders, such as irritability, hyperactive and aggressive behavior, unstable emotions and irritability, and a tendency to withdraw from social circles
• Disorders of communication and interaction with the environment, such as autism or ADHD
• Barriers to physical and intellectual development, such as impaired understanding of things
• Seizure

2. Kidney

Symptoms that can appear due to tuberous sclerosis in the kidneys include nausea and vomiting, difficulty urinating, and swelling in the feet, legs, or hands due to fluid buildup. These symptoms appear when kidney function is impaired and has the potential to cause kidney failure.

3. Skin

The symptoms of tuberous sclerosis on the skin are thickening of some areas of the skin, light-colored patches appear, tissue that grows under or around the nails, and small pimple-like bumps that appear on the face.

4. Heart

Disorders in the heart due to the influence of tuberous sclerosis can be characterized by chest pain, shortness of breath, palpitations, and skin color that looks blue (cyanosis).

5. Lung

Tuberous sclerosis in the lungs can cause coughing and shortness of breath, especially when doing strenuous activities or exercising.

6. Eyes

Disorders due to tuberous sclerosis in the eye are characterized by visual disturbances due to the appearance of white patches 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 has tuberous sclerosis, or if you 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 exhibits the symptoms of tuberous sclerosis described above or you notice something is different about your child, contact your pediatrician as soon as possible.

Tuberous Sclerosis Diagnosis

To diagnose tuberous sclerosis, the doctor will ask the patient's symptoms and medical history in his family. Next, the doctor will perform a physical examination, including the eyes and skin, as well as an examination of nerve function.

A follow-up examination is performed to detect the location of the tumor and confirm the diagnosis of tuberous sclerosis. The types of checks 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 the tumor growth
• USG and CT scan, to detect the presence of tumors growing in the kidneys, heart, or lungs
• Heart 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.

Tuberous Sclerosis Treatment

Treatment of tuberous sclerosis will be adjusted according to the location of the tumor and the symptoms that appear. Types of handling that can be done are:

Drugs

Drugs are used to treat 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

Operation

Surgery is performed 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.

Physiotherapy

Other supportive therapies, such as physiotherapy, occupational therapy, or speech therapy, can be used to help people with tuberous sclerosis of the brain. The purpose of this therapy is to improve the child's ability to perform daily activities.

Please note, there is no effective drug to cure tuberous sclerosis. Therefore, the doctor will carry out regular organ function checks to monitor tumor growth and control the symptoms that appear.

Tuberous Sclerosis Complications

Patients with tuberous sclerosis 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:

• Hydrosephaly

  Tumors that appear in the brain can cause a buildup of cerebrospinal fluid in the brain cavity (hydrocephalus). This condition can cause pressure in the brain to increase and the size of the head to increase.

• Kidney failure

  This condition occurs when a tumor that develops in the kidney gets bigger and causes bleeding, leading to kidney failure.

• Heart disease

  The growth of tumors in the heart can cause obstruction of blood flow to and from the heart, as well as arrhythmias.

• Lung function disorders

  Tumors that develop in the lungs can cause fluid accumulation in the lungs and trigger pulmonary function disorders.

• Cancer

  A benign tumor that grows inside a patient with tuberous sclerosis has a high risk of developing into cancer.

• Blindness

  The growth of tumors in the eye can inhibit the function of the retina so that it interferes with vision and causes blindness. Even so, these complications are rare.

Tuberous Sclerosis Prevention

The way to prevent tuberous sclerosis is not yet known. However, if you and your partner are planning to have children and have a family suffering from tuberous sclerosis, it is recommended that you do a genetic consultation and examination.

Genetic examination is useful for knowing the risk of tuberous sclerosis in children and anticipating it.