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Tuberous Sclerosis Complex

written by: Margo • edited by: Leigh A. Zaykoski • updated: 12/21/2009

Tuberous Sclerosis Complex is a rare genetic disease with no cure that affects multiple systems in the body, including the brain, heart and lungs.

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    Tuberous sclerosis complex, or TSC, is a serious condition that causes non-cancerous tumors in the brain, lungs, and other organs. It is estimated by the Tuberous Sclerosis Alliance that approximately one in 6,000 infants are born with this condition, although the symptoms may not be noticeable until later in life. It is caused by a modification or mutation of one of two chromosomes, either TSC1, which is located on the ninth chromosome, or TSC2, located on the sixteenth chromosome. Although TSC can be inherited, most new cases are unique to that patient, meaning it wasn't inherited or contracted elsewhere.

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    Symptoms

    The symptoms of TSC are different for each individual, because they vary based on the severity of the condition and which areas of the body are affected. One of the most commonly affected organs are the kidneys, with symptoms such as cysts and angiomylipomas, which are fatty tissue and muscle cell lesions. Tumors may be present in the brain and heart, especially in children. Tumors may also be found in the eyes, lungs, pancreas and liver.

    The brain tumors can be partially responsible for learning disabilities, mental retardation and behavior problems. They can also lead to a problem with epilepsy. The tumors common to TSC patients, although benign, can also lead to epilepsy, attention defecit disorder and, in some cases, autism. It is estimated by National Institure of Neurological Disorders and Stroke that as many as two-thirds of individuals with this condition have a learning disability or other neurologically-based disorder.

    Another common symptom of TSC is skin abnormalities. Although these do not cause any serious medical problems, and are often just an annoyance, they are very useful in diagnosing the condition. Some skin abnormalities may cause disfigurement and be serious enough to warrant treatment.

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    Diagnosis and Treatment

    One of the very first signs of TSC is often delayed development as an infant or child. Seizures may also encourage physicians to test for this condition. If TSC is suspected, the patient will undergo a physical examination, complete with a CT or MRI of the brain. The heart, liver and kidneys will be inspected through an ultrasound. The patient will also be examined for any marks on their skin. Because not all doctors are familiar with this rare condition, it is best if a physician experienced in TSC makes the diagnosis.

    There is no cure for tuberous sclerosis complex. There are, however, a variety of treatments meant to make life more manageable for individuals with this condition. Medications can treat behavioral issues, seizures, and some of the skin conditions. School and training programs are often available to help TSC patients who have special needs. Individuals with TSC will need to keep up with regular medical care, to make sure their symptoms are being managed correctly.

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    Complications

    There are several complications associated with this condition. The worst are caused by tumors, and the complications depend on where the tumore is located. Tumors in the eye, for example, can weaken vision if it blocks light from entering the retina. Tumors in the brain can interfere with neurological function, as well as causing headaches or nausea by blocking spinal fluid within the brain.Kidney tumors can cause renal failure, and, rarely, can become cancerous. In the heart, tumors can interrupt the normal rhythm of the heart or block blood flow.

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    Resources

    Tuberous Sclerosis Fact Sheet: National Institute of Neurological Disorders and Stroke, http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm Accessed December 2009.

    Tuberous Sclerosis Complex Alliance, http://www.tsalliance.org/ Accessed December 2009.

    Tuberous Sclerosis: Complications, http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032/DSECTION=complications Accessed December 2009.

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