Tests and diagnosisBy Mayo Clinic staff
Your child will likely be evaluated by several different specialists, including those trained to diagnose and treat problems of the brain (neurologist), heart (cardiologist), eyes (ophthalmologist), skin (dermatologist) and kidneys (nephrologist). These doctors will likely order a number of tests to diagnose tuberous sclerosis.
If your child has had seizures, diagnostic testing will likely include:
- 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 cross-sectional images of the brain or other parts of the body.
- Computerized tomography (CT) scan. This is an X-ray technique that produces images of the brain or other parts of the body. CT images are more detailed than those produced by conventional X-ray exams.
- Ultrasound. This test uses high-frequency sound waves to create images of certain body parts, such as the kidneys, on a monitor.
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). This test records the electrical activity of the heart.
In addition, your child's eyes and skin will be thoroughly examined for lesions commonly associated with tuberous sclerosis.
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. Follow-up care and monitoring is important, even for mild cases of tuberous sclerosis that were previously undiagnosed.
- Tuberous sclerosis fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm. Accessed Oct. 4, 2011.
- Seibert D, et al. Recognition of tuberous sclerosis in adult women: Delayed presentation with life-threatening consequences. Annals of Internal Medicine. 2011;154:806.
- Tuberous sclerosis complex. http://www.uptodate.com/home/index.html. Accessed Oct. 5, 2011.
- My child has tuberous sclerosis: A brochure for parents. Tuberous Sclerosis Alliance. http://www.tsalliance.org/publications/52810_NTSA.pdf. Accessed Oct. 4, 2011.
- Tuberous sclerosis complex. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex. Accessed Oct. 4, 2011.
- DeKlotz CMC, et al. Dramatic improvement of facial angiofibromas in tuberous sclerosis with topical rapamycin: Optimizing a treatment protocol. Archives of Dermatology. 2011;147:1116.
- Patterson MC (expert opinion). Mayo Clinic, Rochester, Minn. Oct. 8, 2011.