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A rare genetic disorder that results in benign tumours on many parts of the body is known as tuberous sclerosis. These are the noncancerous overgrowth of the normal tissue. This disorder is most likely to be detected during infancy. However, the signs of this ailment might be so mild that one could miss identifying the disorder until adulthood.
Severe cases of tuberous sclerosis can cause serious disabilities in the affected person. Although there is no cure as of yet for this disorder, treatments are available that can ease the effect of the signs and symptoms of this disorder.
Also called tuberous sclerosis complex, this is the second most common neurocutaneous form of the disease. This disorder is inherited in an autosomal dominant pattern.
What Causes Tuberous Sclerosis?
Tuberous sclerosis is caused due to mutations. The two genes involved and that face the defects are TSC1 and TSC2. The presence of any one of these two defective genes could cause the disease. The TSC1 gene is present on chromosome 9 and is responsible for the production of a protein known as hamartin.
What Are The Signs And Symptoms Of Tuberous Sclerosis?
The most commonly affected areas are the eyes, kidneys, lungs, skin, heart and the brain. The symptoms can be mild or severe (depending on the size and location).
The following are some of the signs and symptoms:
If there is an abnormal growth in the brain, it could cause seizures. This is usually the first sign indicating tuberous sclerosis. In children, infantile spasm shows up.
People would tend to have patches of light-coloured skin. Reddish bumps might appear around the nails along with thickened regions of the skin. On the face, it might resemble acne, especially in children.
There could be developmental delays along with learning disabilities. Mental health could be severely affected.
The affected person may show signs of hyperactivity, aggression resulting in self-injury. There could be problems with emotional and social adjustments.
There could be noncancerous growth in the kidneys. With age, the number of growths increases.
There could be coughing and shortness of breath when there are abnormal growths in the lungs.
Growths in the heart are largest when a baby is born. It reduces in size as one gets older.
Growths can occur on the retina. These usually do not interfere with the vision. It appears as white patches.
How Is It Diagnosed?
Depending on the symptoms, specialists might be required to address the exact cause and symptom associated with this disorder. The diagnosis usually begins with a physical examination. There could be few genetic tests done as well.
- Seizure evaluation: An electroencephalogram is done if a child has seizures. The test is done to record the electrical activities in the brain.
- Evaluation of the brain, lungs and kidneys: Tests usually involve an ultrasound, MRI or a CT scan.
Heart evaluation: The diagnostic tests would include echocardiogram and an electrocardiogram.
- Eye evaluation: Magnifying lens and light are used to examine the retina.
- Mental health, behavioural or emotional disorders: If required, a psychiatrist could be consulted to evaluate the mental health of the patient.
How Do You Treat Tuberous Sclerosis?
Although there is no cure, the symptoms can be treated.
In case the patient suffers from seizures, anti-seizure medications are prescribed. In case there are specific forms of kidney and brain growths that can't be removed via surgery, then a drug known as everolimus is prescribed. Acne-like skin condition can be treated using an ointment known as sirolimus.
An abnormal growth can be surgically removed. When growths such as the ones in the brain do not respond to medication, they might have to be treated through a surgery. For improving the appearance of the skin, dermabrasion or laser treatments are done.
Speech, physical or occupational therapies can help children with special needs. This would help their ability to perform daily tasks in a better manner.
Educational and vocational services:
This is for children with behavioural issues and developmental delays. Such social and rehabilitation services might have to be continued for the entire life.
Making a child adjust and live with the disorder without going into depression can be tough. This is where a mental health provider might help. Such a person can address the emotional, behavioural and social issues that the child is facing and recommend treatment options accordingly.
Is Tuberous Sclerosis Fatal?
Status epilepticus, that occur as a result of a tumour in the brain, can turn fatal for patients with tuberous sclerosis. This has been closely linked to renal failure and bronchopneumonia as well. Also, people who have abnormal growths in the lungs causing lymphangioleiomyomatosis can have a shorter lifespan.