Tuberous Sclerosis

1
Tuberous Sclerosis
By Harold Talbert
2
What is Tuberous Sclerosis ?

• Tuberous sclerosis is a genetic disorder that
  affects the way that cells grow and reproduce
  leading to the formation of tumor like growths.

3
History of Tuberous Sclerosis

• Desire-Magloire Bourneville Credited for
  discovery in 1879.
• In 1908 neurologist Heinrich Vogt establishes
  diagnostic triad for the disorder

4
Identified Causes

• Spontaneous Mutation
• Loss of proteins Hamartin and Tuberin produced by
  TSC1 (9q34) located on chromosome 9 and
  TSC2 (16p13) located on chromosome 16

5
Inheritance

• Tuberous Sclerosis is inherited in a autosomal
  dominant way.
• Giving the child a 50 of getting the disorder if
  at least one parent is heterozygous for the
  disorder

6
Symptoms

• Tumors (non-cancerous)
• Epilepsy
• Mental retardation
• Skin abnormalities (Angiofibromas, periungual
  fibromas, and others)

7
Treatments

• Epilepsy anti epileptic drugs
• Skin abnormalities Laser treatment
• Tumors drugs and surgery

8
Lisa and her Family

• This genetic disorder runs in Lisa's family
• Lisa is an epileptic who went through laser
  treatment, kidney surgery.
• Her sister also epileptic, various tumors, skin
  condition used to have low mental ability.

9
Statistics

• Frequency
• US 1 case in 6,00 persons.
• Internationally 1 case in 6,000 persons.
• Roughly 1,100,000 people world wide have this
  disorder.

10
Bibliography

• http//www.nwabr.org/studentbiotech/winners/studen
  twork/2004/EM_GA_SMITH/website/history.htm
• http//en.wikipedia.org/wiki/Tuberous_sclerosisPa
  thophysiology
• http//www.tsalliance.org/pages.aspx?content117
• http//www.title14.com/ts/index.html

• http//www.ninds.nih.gov/disorders/tuberous_sclero
  sis/tuberous_sclerosis.htm
• http//www.emedicine.com/derm/topic438.htm
• http//www.tuberous-sclerosis.org/about-tuberous-s
  clerosis/