AicardiGoutieres syndrome

1
Aicardi-Goutieres syndrome

• Dan Becker

2
Aicardi-Goutieres syndrome

• AGS
• Pseudo-TORCH syndrome (believed to be the same
  but a different name)

3
Mode of Inheritance

• It is autosomal and is on a gene
• It is on one of the other 22 chromosomes (not on
  sex chromosome)
• The gene is recessive
• There have been 80 cases since it first appeared
  in 1984

4
Punnett Square

• Both parents must be heterozygous because if you
  have the disease you cannot reproduce

5
Symptoms of the Disorder and Detection

• mental and physical handicap associated with
  calcification of the basal ganglia, particularly
  the putamen, globus pallidus, and thalamus
  leukodystrophy cerebral atrophy chronic
  cerebrospinal fluid (CSF) leukocytosis and
  increased concentration of interferon-alpha in
  the CSF.

6
Diagnostic Testing

• There are three main ways that Aicardi-Goutieres
  syndrome
• 1) A CT scan of the head
• 2) A spinal tap - this tests for an elevated
  white blood cell count and alpha-interferon
• 3) Skin biopsy

7
Prognosis

• There is no survival rate and you do not live
  very long
• At age twelve a person with AGS would have no
  white blood cells left
• There is no know treatment for it

8
Additional Health Problems

• There are no treatments for AGS
• People with AGS have similar symptoms to Rubella,
  herpes virus, cytomegalovirus
• Confuses many people because AGS contains many
  different parts. Such as leukodystrophy and
  Cockayne Syndrome (CS).

9
Treatment

• There is no treatment

10
Current Research

• Recently there have been many new symptoms that
  have been found and what one reason of the
  severity of this disease. It is that an enzyme
  that is made called nucleases. Without this
  enzyme the body attacks the waste made by DNA
  because the nucleases does not clean it up. This
  ends up killing/ destroying the DNA and RNA

11
Genetic Counseling

• For Genetic Counseling to be available for anyone
  for this disease the person must have had someone
  in their family with the disease. This is because
  it is a very hard, complicated, long, and
  expensive process.

12
Shows that kids with AGS must have AGS because
they do not have any of these diseases.
13
Both of these CT scans show calcium spots in the
brain that should not be in it. This is a symptom
of AGS
14

15
CT scan Enlarged ventricles and subcortical
calcifications in both hemispheres
16
These CT scans also show the calcium deposits
that are a symptom of someone with AGS
17
Additional Interesting Facts

• This disorder cam appear anywhere in the world
  because it is not affected by the environment
• This disease is masked and presents symptoms of
  many other diseases
• Pseudo-TORCH syndrome is considered the same as
  AGS because they are almost identical in symptoms
  and what they do to the body.

18
Credits

• http//www.genetests.org/servlet/access?id8888891
  key8doXGQSZWvpB6gryINSERTGRYfcnyfw036tfil
  ename/glossary/profiles/ags/details.htmlSummary
• http//www.aicardi-goutieres.com/
• Aicadi-Goutrières syndrome by Françoise
  Goutrières