Tuberous sclerosis (TWO-bur-uhs skluh-ROH-sis), also called tuberous sclerosis complex, is a rare genetic disease that causes noncancerous (benign) tumors to grow in many parts of the body. The signs and symptoms of tuberous sclerosis vary widely, depending on where the tumors develop and how severely a person is affected.
Tuberous sclerosis is often detected during infancy or childhood. Some people with tuberous sclerosis have such mild signs and symptoms that the condition isn't diagnosed until adulthood, or it goes undiagnosed. Others experience serious disabilities.
Although there's no cure for tuberous sclerosis, treatments are being studied. The course or severity of the disease can't be predicted, but with appropriate care, many people who have tuberous sclerosis lead full, productive lives.
Source: http://www.mayoclinic.com
Tuberous sclerosis symptoms include noncancerous tumors or other lesions that grow in many parts of the body, but most commonly in the brain, kidneys, heart, lungs and skin. Symptoms can range from mild to severe.
Tuberous sclerosis signs and symptoms vary, depending on where the tumors or other lesions develop:
Signs and symptoms of tuberous sclerosis may be noticed at birth. Or the first signs and symptoms of tuberous sclerosis may become evident during childhood or even years later in adulthood.
Contact your child's doctor if you're concerned about your child's development or you notice any of the signs or symptoms of tuberous sclerosis described above.
Source: http://www.mayoclinic.com
Tuberous sclerosis is a genetic disease caused by mutations in the TSC1 or TSC2 gene. Normally, these genes are thought to prevent cells from growing too fast or in an uncontrolled manner. Mutations in either of these genes can cause cells to divide excessively, which leads to numerous lesions throughout the body.
Source: http://www.mayoclinic.com
Your child may be evaluated by several different specialists, including those trained to diagnose tuberous sclerosis (geneticist) and those trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist).
These doctors will look for typical tumors or lesions commonly associated with tuberous sclerosis. They also will likely order several tests to diagnose tuberous sclerosis.
If your child has had seizures, diagnostic testing will likely include an electroencephalogram (EEG). This test records electrical activity in the brain and can help pinpoint what's causing your child's seizures.
To detect abnormal growths on the brain and kidneys, diagnostic testing will likely include:
To determine whether your child's heart is affected, diagnostic testing will likely include:
Follow-up care and monitoring is important, even for mild cases of tuberous sclerosis. A schedule of regular follow-up monitoring throughout life also may include the above tests.
If a child is diagnosed with tuberous sclerosis without a family history of the condition, both parents may consider screening for tuberous sclerosis as well.
Parents also may consider genetic testing to confirm the diagnosis of tuberous sclerosis in their child, and to understand the risk of tuberous sclerosis for their other children and any future children.
Source: http://www.mayoclinic.com
Depending on where the tumors or other lesions develop and their size, they can cause severe or life-threatening complications. Here are some examples of complications.
Source: http://www.mayoclinic.com
If your child is diagnosed with tuberous sclerosis, you and your family will face a number of challenges and uncertainties. One of the most difficult things about this condition is that it's impossible to predict how your child's health and development will unfold over time.
Your child may have only mild problems and track closely with his or her peers in terms of academic, social and physical abilities. Or your child may have more-serious health and developmental problems and lead a life that's less independent or different from what you may have expected.
To help you and your child cope, here's what you can do:
Source: http://www.mayoclinic.com
About one-third of people who have tuberous sclerosis inherit an altered TSC1 or TSC2 gene — the genes associated with tuberous sclerosis — from a parent who has the disease. About two-thirds of people who have tuberous sclerosis have a new mutation in either the TSC1 or TSC2 gene.
If you have tuberous sclerosis, you have up to a 50 percent chance of passing the condition to your biological children. Severity of the condition may vary. A parent who has tuberous sclerosis may have a child who has a milder or more severe form of the disorder.
Source: http://www.mayoclinic.com
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