Overview
Diagnosis
Depending on symptoms, you or your child may see several specialists who are experienced in tuberous sclerosis. These may include experts in the brain, heart, eyes, skin and kidneys. Other specialists may be involved if needed.
A physical exam is usually done, along with a discussion about symptoms and family history. The provider checks for growths, also called noncancerous tumors, that often occur with tuberous sclerosis. Several tests are usually ordered, including blood tests and genetic tests, to diagnose tuberous sclerosis and identify related concerns.
Seizure evaluation
Diagnostic testing often includes an electroencephalogram, or EEG. This test records electrical activity in the brain and helps determine what may be causing seizures.
Brain, lungs, kidneys and liver evaluation
Tests to detect growths in different organs may include:
• MRI, which uses a magnetic field and radio waves to create detailed images of the brain or other body parts
• CT scan, which produces cross-sectional or 3D images of the brain or body
• Ultrasound, which uses high-frequency sound waves to create images of organs such as the liver, heart and kidneys
Heart evaluation
To check whether the heart is affected, testing may include:
• Echocardiogram, which uses sound waves to create images of the heart
• Electrocardiogram, also called an ECG or EKG, which records the heart’s electrical activity
Eye exam
A bright light and magnifying lens are used to look at the inside of the eye, including the retina.
Dental exam
This exam involves checking the teeth and the inside of the mouth. X-rays of the teeth and jaws are often included.
Developmental or mental health evaluation
If concerns show up during screening, an evaluation with a psychiatrist, psychologist or mental health provider may be recommended. This can help identify developmental delays, learning limits, educational or social challenges, or behavioral or emotional disorders.
Genetic testing
Genetic testing can confirm the diagnosis of tuberous sclerosis. If a child is diagnosed without a known family history, both parents may consider genetic testing. Genetic counseling can help families understand the risk to other children and future pregnancies.
People with tuberous sclerosis may also seek genetic counseling before having children to understand their chances of passing on the condition and the options available.
Treatment
Although there is no cure for tuberous sclerosis, treatment focuses on managing specific symptoms.
Medicine can help control seizures and other issues such as heart rhythm problems or behavioral symptoms. Everolimus may be used for certain brain and kidney growths that cannot be removed surgically. Early treatment with these medicines may reduce the risk of seizures. A topical form of sirolimus may help treat skin growths that resemble acne.
Surgery may be recommended if a growth affects how an organ functions. Growths in the brain, kidneys or heart may be removed. Surgery also may help control seizures that do not respond to medicine. Procedures such as dermabrasion or laser therapy can improve the appearance of skin growths.
Therapy, including occupational, physical or speech therapy, can support children with developmental needs. These services help with daily tasks and overall functioning.
Educational and vocational services may help children with learning delays or behavior challenges adapt in school and achieve their full potential. Supportive services may continue through adulthood when needed.
Mental health care may help individuals adjust to living with tuberous sclerosis. A mental health provider can address emotional, social or behavioral challenges and connect families with helpful resources.
Ongoing monitoring
Tuberous sclerosis is lifelong and requires consistent monitoring. Many symptoms develop slowly over time, so regular appointments with a health care provider are important. Ongoing evaluations often include tests similar to those done during diagnosis. Early detection and management can help prevent complications.
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