Diagnosis

Depending on your child's signs and symptoms, he or she may be evaluated by several different specialists with expertise in tuberous sclerosis, such as doctors trained to treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist), kidneys (nephrologist), and other specialists.

Your child's doctors will do a physical exam, discuss symptoms and family history, and look for typical growths (benign tumors), commonly associated with tuberous sclerosis. They will also likely order several tests — including genetic tests — to diagnose tuberous sclerosis and identify related problems.

Seizure evaluation

If your child has had seizures, diagnostic testing will likely include an electroencephalogram. This test records electrical activity in the brain and can help pinpoint what's causing your child's seizures.

Brain, lungs, kidneys and liver evaluation

To detect growths or tumors in the body, diagnostic testing will likely include:

• Magnetic resonance imaging (MRI). This test uses a magnetic field and radio waves to create detailed images of the brain or other parts of the body.
• Computerized tomography (CT) scan. This X-ray technique produces cross-sectional images, and sometimes 3-D images, of the brain or other parts of the body.
• Ultrasound. Also called sonography, this test uses high-frequency sound waves to create images of certain body parts, such as the kidneys.

Heart evaluation

To determine whether your child's heart is affected, diagnostic testing will likely include:

• Echocardiogram. This test uses sound waves to produce images of the heart.
• Electrocardiogram (ECG or EKG). This test records the electrical activity of the heart.

Eye exam

A light and magnifying lens are used to examine the inside of the eye, including the retina.

Developmental or psychiatric evaluation

If needed based on routine screening, an evaluation with a psychiatrist, psychologist or other mental health provider can identify developmental or intellectual disabilities, educational or social problems, or behavioral or emotional disorders.

Screening and genetic testing

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 may also 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.

People with tuberous sclerosis may consider genetic counseling before their reproductive years to understand their risk of passing on the condition and their reproductive options.