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Tuberous sclerosis (meaning "hard swellings") is a rare genetic disorder primarily characterized by a triad of seizures, mental retardation, and skin lesions (called facial angiofibroma or adenoma sebaceum). This "classic" Vogt triad is present in 30-50% of cases; in particular, up to 30% of tuberous sclerosis reportedly have normal mentation. Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a. MISME syndrome), Sturge-Weber, and Von Hippel-Lindau compromise the Phakomatoses or neurocutaneous syndromes, all of which have neurologic and dermatologic lesions. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.
The neuropathologic findings of the cortical "tubers" (sclerose tubereuse) was first described by Désiré-Magloire Bourneville in 1880.
Individuals with tuberous sclerosis may experience none or all of the symptoms with varying degrees of severity. Tuberous sclerosis is a multi-system disease that can affect the brain, kidneys, heart, eyes, lungs, and other organs. Small benign tumors may grow on the face and eyes, as well as in the brain, kidneys, and other organs. Neuroimaging studies may be able to confirm the diagnosis. Seizures most often begin in the first year of life.
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Genetic Disorders
Rare Disorders :: Conditions and Diseases
Causes :: Mental Retardation
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A trio of genome-wide studies -- collectively the largest to date -- have pinpointed a vast array of genetic variation that cumulatively may account for at least one third of the genetic risk for schizophrenia. One of the studies traced schizophrenia and bipolar disorder, in part, to the same chromosomal neighborhoods.
Imaging Technique Allows Researchers to Monitor Protein Changes in Mouse Tumors
Wed, 01 Jul 2009 12:05:00 -0400
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CNN.com - Health
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A former hospital employee may have exposed hundreds or thousands of surgical patients to hepatitis C when she replaced clean needles filled with the powerful painkiller fentanyl with her own dirty needles filled with saline solution.
Health.com picks top beach, lake getaways
Fri, 03 Jul 2009 13:47:40 -0400
We know your summer vacation time is precious: You want to land where you can truly relax, breathe fresh air, get in some exercise and eat well -- without breaking the bank. That's why we teamed up with a panel of travel and health experts to help us find the healthiest of the nation's most popular beach and lake towns.
Children's Hospital Medical Center of Cincinnati Tuberous Sclerosis Program - Organized in 1993 to assist in the medical care of children and adults with tuberous sclerosis.
Meta Description: [ The Tuberous Sclerosis Clinic at Cincinnati Children's Hospital Medical Center assists in the medical care of children and adults with Tuberous Sclerosis. ]
Danielle's Website - Personal story of a child who has the condition, Tuberous Sclerosis. Contains links and photos.
Information and support for persons affected by Tuberous Sclerosis Complex in Canada. - Site includes contact e-mail sites for board members across Canada, fact sheets about TSC, a forum for sharing information, and portions of the TSCST newsletter, Connections.
Meta Description: [ Dedicated to the principles of providing encouragement and support to individuals and their families diagnosed with Tuberous Sclerosis Complex (TSC); raising public awareness and educating our communities of TSC; and to promote and support research aimed at the cure for TSC and/or control of Tube... ]
Kolten's Tuberous Sclerosis Page - Kolten's story about living with this disease. The daily seizures that took over his life and the amazing surgery that gave it back to him.
Meta Description: [ This is our son Kolten's story about having Tuberous Sclerosis. The seizures that took over his life and the amazing surgery that gave it back to him. that gave it back to him. ]
National Library of Medicine - A list of synonyms, a summary and major features of tuberous sclerosis.
NORD: Tuberous Sclerosis - Offers alternative names, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
Pediatric Oncall- Tuberous Sclerosis - Offers commonly asked questions about this disease.
Meta Description: [ Problems of a child with Tuberous Sclerosis- Information at www.pediatriconcall.com. ]
Team Tamara - Nonprofit dedicated to raising awreness about Tuberous Sclerosis Complex; raising fund for The Children's Hospital of Phila., The Epilepsy Foundation, The Tuberous Sclerosis Alliance. Includes info links and Tamara's health updates.
Meta Description: [ Raising awareness about Tuberous Sclerosis Complex and raising funds for research, awareness, and treatment programs for Tuberous Sclerosis Complex and Epilepsy. ]
Tuberous Sclerosis - A short information sheet on this disease compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Tuberous sclerosis information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
Tuberous Sclerosis - Lisa's Site - An incurable genetic condition that causes tumors to grow in various places in the body.
Tuberous Sclerosis Alliance - US advocacy and support organization provides information about tuberous sclerosis complex, research on its genetics and treatment, and support for patients and their families.
Tuberous Sclerosis Association - UK charity supporting sufferers, promoting awareness, and seeking the causes and best possible management of this genetic disease. Resources for patient families and information on this condition.
Meta Description: [ The Tuberous Sclerosis Association, UK: Supporting sufferers, promoting awareness, and seeking the causes and best possible management of Tuberous Sclerosis. ]
Tuberous Sclerosis Fact Sheet - Developed by the National Institute of Neurological Disorders and Stroke (NINDS).
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