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:
- 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.
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.
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.
Nov. 25, 2014
- Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 28, 2014.
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Sept. 23, 2014.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Sept. 23, 2014.
- Tuberous sclerosis. National Organization for Rare Disorders. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/35/viewFullReport. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Genetics, clinical features, and diagnosis. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Owens J, et al. Tuberous sclerosis complex: Management. http://www.uptodate.com/home. Accessed Sept. 23, 2014.
- Krueger DA, et al. Tuberous sclerosis complex surveillance and management: Recommendation of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology. 2013;49:255.
- About TSA. Tuberous Sclerosis Alliance. http://www.tsalliance.org/. Accessed Sept. 30, 2014.
- Hand JL (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 4, 2014.
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