Tuberous Sclerosis

Autosomal Dominant Project

Who discovered this and when?

A French physician named Désiré-Magloire Bournville in the 1880's

Signs and Symptoms:

  • Hamartomaceous lesions of the brain, heart, kidneys, skin, lungs, and eyes
  • Mental Retardation
  • Siezures
  • Autism
  • Fibromas of finger nails and toe nails
  • Pitted Teeth
  • Dermatoligical lesions


Three symptoms that constitute a positie diagnosis of TSC are:


  • Siesures
  • Mental Retardation
  • Adenoma Sebaceum


this is know as the clinical triad




Hamartomaceous lesions or hamartomas is known as tumor like growths which are referred to as tubers

Body Organs Affected:

  • Brain
  • Lungs
  • Heart
  • Kidneys
  • Skin
  • Bone
  • Eyes

How does a Person receive the Disorder?

This disorder is sex-linked

How often does this occur in the Population?

At least 2 children are born each day with this disease

Is it more frequent among men or women?

This disease is more common in women

Is it more common in one ethnicity?

No. This disorder effects all ethnic groups

What types of treatment(s) are given for someone who has this disorder?

  • There is no cure to this disease
  • But they sometimes will do surgery to remove the tumors in the brain
  • They can also give medications to shrink the size of the tumors

What is the typical prognosis of someone with this disorder?

  • Long-term prognosis for infants who are born full-term and do not develop non-immune hydrops is reasonably good.
  • Developmental outcomes for infants who have TS will vary widely from normal intelligence to sever developmental delays
  • They estimate that about 38% of children with TS have developmental delays and those who develop seizures within the first year of life are at an increased risk for mental disabilities

How is this Disorder Diagnosed?

  • Doctors look for a group of symptoms to make the diagnosis.
  • Many different tests will be performed by the medical team
  • A physical exam
  • An Ultraviolet light called a Wood's lamp will be used to find white patches that are hard to see
  • A brain MRI may be performed
  • An Ecocardiogram (ECHO, an ultrasound of the heart)
  • A Kidney ultrasound

A suggested list of readings and/or Internet sources that may be of interest to the class:

  • INFANTILE SPASMS & TUBEROUS SCLEROSIS COMPLEX
  • LIVING WITH TUBEROUS SCLEROSIS: STORIES OF LOVE AND HOPE
  • TUBEROUS SCLEROSIS COMPLEX
  • A BASIC INTRODUCTION TO CLINICAL TRIALS
  • IN THEIR OWN WORDS: PERSONAL JOURNEYS WITH TSC

A Pedigree of Tuberous Sclerosis

Sources:

Works Cited

Our Health Topics: Tuberous Sclerosis. Children's Hospital Boston, 2011, 2011. Web. 7 Mar. 2014. <https://www.childrenshospital.org/health-topics/conditions/tuberous-sclerosis-tsc>.

Rhabdomyomas/tuberous sclerosis. Children's Hospital of Wisconsin, 2014. Web. 7 Mar. 2014. <http://www.chw.org/medical-care/fetal-concerns-center/conditions/infant-complications/rhabdomyomas-and-tuberous-sclerosis/>.

Tuberous Sclerosis. Medscape Refrence 2011 WebMD,LLC, 2011. Web. 7 Mar. 2014. <http://emedicinemedscape.com/article/1177711-overview>.

Tuberous Sclerosis Complex. N.p., n.d. Web. 7 Mar. 2014. <http://biologykenvon.edu/slonc/bio38/howell/tsc.htm>.