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How is tuberous sclerosis in babies diagnosed?

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Doctors diagnose tuberous sclerosis in babies through an account of their symptoms combined with imaging tests, such as CT scans, echocardiogram, magnetic resonance imaging and ultrasound, Mayo Clinic explains. They often also perform an electrocardiogram to test the electrical activity of the heart or an electroencephalogram to test the electrical activity of the brain. A mutation in one of two different genes causes tuberous sclerosis, so genetic tests can confirm a diagnosis of this condition.

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The mutations behind tuberous sclerosis cause noncancerous tumors to develop in many locations in the body, Mayo Clinic states. In some people, these cause few symptoms, but in others they can cause severe complications. Doctors most commonly discover the condition during infancy or early childhood, but in mild cases it can go undiscovered until adulthood. There is no way to predict the course or severity of tuberous sclerosis.

Tuberous sclerosis tumors in the brain can cause seizures, and this is often the first symptom that appears, Mayo Clinic notes. Other symptoms of tuberous sclerosis also depend on the locations of the tumors and can include developmental delays, kidney problems, lung problems, skin abnormalities and eye abnormalities. Surgery can sometimes remove problematic tumors, and medications, such as anti-seizure medications, can help treat some of the symptoms they cause.

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