Aicardi Goutieres Syndrome

Elisa Banyard
 What is Aicardi Goutieres Syndrome?

● Rare Genetic Disorder

○ Brain
○ Spinal Cord
○ Immune System
● Damage to the Myelin Sheath
○ Immune System Attacks Itself
(targeting myelin sheath)
Causes of AGS ● Mutation of one or more small group of
specific genes
○ Build up of small pieces of DNA in the
brain
■ Thought to trigger the immune
response that leads to the symptoms
of AGS
● Inherited
○ Both parents carry genetic mutation
(autosomal recessive pattern of
inheritance)
○ 1 in 4 chance
○ Random Mutation
 Types of AGS
Early Onset AGS Later Onset AGS
● More Serious Form of AGS ● Behave normally for the first few
● Can become more severe over weeks or months before
time symptoms begin.
● Microcephaly ● Unexplainable Fever & Crying
● Liver Inflammation ● Develop rash, lesions, or swelling
● Seizures (fingers, toes, ears)
● Skin Rashes ● Feeding difficulty
● Greater Loss of the Myelin ● Decline in head growth
Sheath ● Seizures
● Weak or Stiffened Muscles
● Developmental Delays
 Testing and Diagnosis
● Magnetic Resonance Imaging (MRI)
○ Detect Patterns in the Brain Tissue
○ Calcium Buildup
○ Shrinking or Unusually Small Areas of the Brain
● Cerebral Spinal Fluid (CSF) Testing
○ Increase Immune Activity
● Genetic Testing
○ Blood Test
■ Changes in the Genes Known to be Associated with AGS
 Treatment for AGS
● No known cure but treatment is
available to help symptoms.
● Each treatment plan is different
depending on the individual.
● Respiratory
● Feeding/Diet
● Glaucoma
● Scoliosis
● Diabetes
● Underactive Thyroid
 References

Children’s Hospital. (2017, December 21). Aicardi-Goutieres Syndrome (AGS). Retrieved from
https://www.chop.edu/conditions-diseases/aicardi-goutieres-syndrome-ags.

Aicardi-Goutieres Syndrome Information Page. (n.d.) Retrieved from

https://www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Goutieres-Syndrome-Disorder-Information-Page
Questions?