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Tuberous Sclerosis

A presentation about Tuberous Sclerosis.
by

Taylor Siskind

on 2 February 2011

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Transcript of Tuberous Sclerosis

Tuberous Sclerosis By Taylor Siskind What is Tuberous Sclerosis? Also called Tuberous Sclerosis Complex
Characterized by epileptic seizures, mental retardation, tumors
on internal organs, and a variety of skin manifestations
Autosomal dominant
Gene mutation in either TSC1 gene on chromosome 9 or TSC2
gene on chromosome 16 Symptoms of TSC People with TSC develop tumor-like growths called hamartomas
(their presence disrupts the normal functions of a particular organ system)
Skin lesions (white or light patches that are in an ash-leeaf shape called Ash-leaf spots),
also called hypomelanotic macules
Small red bumps called fibromas either around the face or around or under finger-
or toenails A Longer List of Symptoms Brain lesions: Subependymal nodules, cortical tubers,
giant cell astrocytomas, cerebral white matter
migration lines Epileptic seizures
Autism
Attention Deficit Hyperacticity Disorder (ADHD)
Fatty kidney tumors
Cardiac rhabdomyomas (tumors) in heart
Retinal nodular hartomas (growths in retina)
Dental pits in teeth
Growths in rectum (hamartomatous rectal polyps)
Bone cysts
Growths in gums (gingival fibromas)
Other non-specific growths
If the individual is a woman then she can get
lymphangiomyomatosis, or a serious lung disease
All people with TSC have a higher risk for
developing specific cancers Genetic Testing Genetic testing can be performed on somatic
(non-germline) tissues such as blood or skin Frequency Info 1 in 6,000 can get this disease Treatment To confirm diagnosis:
Dermatologic (skin) examination
Fundoscopic (eye) examination
Renal (kidney) imaging study
Cardiac electrocardiogram (ECG)
Echocardio-gram (ECHO)
Brain magnetic resonance imaging (MRI) Surgical interventions to remove tumors
Dermabrasion or laser therapy to removie facial
angiofibromas and subungual fibromas (red bumps)
Medication to control seizures (vigabatrin) in infants Life Expectancy People not as severely affected have normal life
expectancies, free of symptoms or complication of the
disease and have a high quality of life
Severely affected or disabled individuals have a shortened life
span and a high rate of illness and medical complications (not very fun) 75% of severely affected people die before age 25 Additional Info 1st diagnosed in 1862 by Von Recklinghausen
He coined the term sclerose tubereuse from which
the name of this disease has evolved into tuberous sclerosis How can this be inherited?
1/3 of people inherit an altered TSC1 or
TSC2 gene from an affected parent
The other 2/3 of people are born with new
mutations in the TSCI or TSC2 gene
(chromosomes 9 & 16)
TSCI is more common in the passed down
through family case while TSC2 is mostly people
born with a new mutation Works Cited Cohen, Pamela E. "Tuberous Sclerosis Complex." The Gale Encyclopedia of Genetic Disorders. 3rd ed. 2010. Gale Virtual Reference Library. Web. 27 Jan. 2011. Wynbrandt, James, and Mark D. Ludman M.D. Genetic Disorders and Birth Defects. New York City: Facts on File, 2000. Print. Nambi M.D., Rabindranath. "Tuberous Sclerosis." Emedicine.com. Medscape, 11 Jan. 2010. Web. 31 Jan. 2011. <http://emedicine.medscape.com/article/1112322-overview>. "Tuberous Sclerosis Complex." Genetics Home Reference. U.S. National LIbrary of Medicine, 23 Jan. 2011. Web. 31 Jan. 2011. <http://ghr.nlm.nih.gov/conditional/tuberous-sclerosis-complex>. Picture Sources http://www.dermnet.com/Tuberous-Sclerosis http://www.healthline.com/adamimage?contentId=1-000787&id=2367 http://emedicine.medscape.com/article/1177711-overview http://emedicine.medscape.com/article/385549-overview http://www.youtube.com/watch?v=qYHbyajzcXw
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