Tuberous Sclerosis
What is it?
Tuberous sclerosis is a quite rare genetic disorder, causing benign tumors in many body parts. Symptoms may vary, and the disease presentation varies from child to child.
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Signs & symptoms
Tuberous sclerosis symptoms may include benign tumors in the brain, eyes, kidneys, heart, lung and skin. Other symptoms may include light-colored skin, thickened smooth skin, reddish bumps around or under the nails, seizures, ADHD, autistic spectrum, aggression, self-injury, cough, shortness of breath and white patches on the retina.
Diagnosis
Tuberous sclerosis diagnosis is based upon findings from medical history and physical examination. EEG may be done if there are seizures, imaging tests including MRI, CT- scan and ultrasound may show the tumors, heart evaluation, eye exam and genetic testing are all part of the diagnosis.
Treatment
There is no treatment for tuberous sclerosis but the symptoms can be treated with anti-seizure medication, arrhythmias medication, everolimus for brain and kidney tumors and sirolimus for skin growths. Surgery may be needed sometimes to remove a symptomatic tumor. Occupational, physical or speech therapy may help the children with special needs, as well as educational services, psychiatric and psychological management.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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