What Is Tuberous Sclerosis?


Tuberous Sclerosis or often called Tuberous Sclerosis Complex ( TSC ) is a rare genetic disease that can cause the growth of benign tumors in many parts of the body. Although not malignant, these tumors can cause health problems, depending on which part of the body the tumors grow. Tumors in TSC can grow in any part of the body, but most commonly found in the kidneys, heart, lungs, brain and skin. Tuberous sclerosis is caused by mutations in genes that regulate cell growth. This causes the cells to grow quickly and uncontrollably, forming tumors in many parts of the body. TSC can be due to heredity, can also be obtained after birth. And only half of people with TSCs lower this genetic disorder to their child.

Symptoms of TSC can occur from birth, in childhood, or even after adulthood, depending on the location of the tumor and its severity. Until now TSC has not been cured. Treatment provided only to address complaints and complications that arise.


Tuberous Sclerosis Symptoms
The symptoms of tuberous sclerosis vary widely, depending on the location of the tumor and its severity. Here are some of the most common symptoms:
  • Abnormalities in the kidneys . Most TSC sufferers have tumors in the kidneys. These tumors can interfere with kidney function.
  • Seizures . This can be an early symptom when a tumor is present in the brain. In young children, the most common form of seizures is infantile seizures, repetitive movements of the head and legs.
  • Abnormalities in the heart . If the tumor grows in the heart, the largest size of the tumor is at birth, and then decreases with age.
  • Abnormalities in the lungs . Disorders that occur in the lungs can cause coughing and shortness of breath, especially during activity or exercise.
  • Abnormalities of the skin . TSC symptoms on the skin can be lighter-colored spots, thickening in some areas of the skin, growing tissue underneath or around the nail, or can also form small bumps on the face like acne.
  • Abnormalities in the eyes . It appears in the form of white patches on the retina that do not always cause vision problems.
  • Behavior issues . Some behavioral problems that can occur in TCS patients are hyperactivity, aggressive behavior, sudden rage, repetitive behavior, and avoid social interaction.
  • Communication and social interaction issues . In TSC, especially those concerning brain tissue, the ability to communicate and interact with the surrounding can be disrupted. This disorder can appear in the form of autism, where there are also abnormalities in behavior.
  • Barriers to development . TSC can also cause learning difficulties, developmental delays, and mental retardation.
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Causes of Tuberous Sclerosis
Tuberous sclerosis is caused by a gene mutation TSC 1 or TSC2. Under normal conditions, these genes play a role in controlling cell growth. Mutations in one of these genes can lead to excessive cell division, resulting in growing tumors in many parts of the body.

One third of TSC cases are hereditary, and the remainder are genetic mutations acquired after birth. TSC sufferers have the potential to reduce this malignancy to their children, and the level of its susceptibility may be lighter or may be even more severe.

Diagnosis Tuberous Sclerosis
It is quite difficult to diagnose TSC, because of the wide variation in symptoms. Diagnosis can be made based on information about symptoms and family history obtained at the time of consultation, as well as physical examination of the eyes, skin, neurological function and internal organs. In addition, some of the following checks may also be made to confirm the diagnosis:

  • CT scan . Scanning to get an overview of internal organs. From this examination can be found the existence of tumors and other changes associated with the growth of these tumors.
  • MRI . Examination to get a deeper picture of the organs.
  • Echocardiogram . Is a heart examination using ultrasound sound waves. In this examination can be seen the growth of tumors in the heart and the presence of impaired heart function.
  • Genetic examination. Examination of blood samples of patients in the laboratory to see any genetic disorders.

Tuberous Scleroris Treatment
Treatment depends on the location of the tumor and the complaints experienced by the patient. For example, if a tumor is present in the kidneys, it can be terminated or inhibited the blood flow that supplies the tumor. May also remove tumor by surgery.

Provision of drugs aims to overcome the symptoms and complications that arise. Suppose antiepileptic drug delivery in case of seizures. Or it could also be given drugs that can suppress tumor growth, such as everolimus for TSC tumors in the kidney.

Other supportive therapies such as occupational therapy, psychological therapy, and educational therapy, are provided to address developmental, mental, cognitive, and social disorders that may arise in cases of TSC tumors in the brain.

Tuberous Sclerosis Complications
Tumors in TSC are benign, but the presence of these tumors can cause abnormalities in organs and health problems, such as:

  • Impaired vision. The presence of tumors in the retina may cause impaired vision, although not always.
  • Kidney disorders. Tumors in the kidneys can cause bleeding, impaired kidney function, even kidney failure that can cause death.
  • Heart disorders. Tumors in the heart are generally present from birth. These tumors can block the blood flow and interfere with the work of the heart.
  • Pulmonary disorders. This condition can cause lung failure and lead to more serious problems.
  • Hydrocephalus . The occurrence of cerebrospinal fluid buildup in the brain, because the flow is inhibited by tumors in brain tissue.

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