What is AGS?

Aicardi-Goutières syndrome is according to humangenetics; a recessive heriditary disease, that means both parents carry the chromosomerror in them selves.

Statistically seen the frequency is situated that the disease picture comes to the appearance with25 %. With 50 % the heridatiry error is contained of the descendants in the body.However it doesn't come to the appearance of the Aicardi-Goutières syndrome. And with remaining 25 % neither the passing of the chromosome nor the outbreak on.

Nobody can place general development prognoses for children with Aicardi-Goutières syndrome. It depends much on how good or how bad the brain is pronounced. In the first couple of life months you can tell the mental and physical difference to healthy children.

Aicardi-Goutieres syndrome is a progressive disease that affects the brain and the immune system, causing brain atrophy and loss of white matter in the brain. A child is born with this syndrome; most cases known are very severe. The syndrome is often mistaken for a pre-natal virus, but it is actually inherited genetically. There are many families with multiple children affected. It is classified as a leukodystrophy because it affects the myelin, or white matter, of the brain.

Primary symptoms include:

  • progressive atrophy of the brain with enlarged ventricles and sulci
  • calcifications of the basal ganglia of the brain
  • elevated levels of white blood cells in the spinal fluid
  • elevated levels of alpha-interferon in the spinal fluid and sometimes in the blood. Alpha-interferon is an immune protein made by cells to combat viruses.
  • cortical blindness, ocular jerks, and poor or no eye contact
  • acquired microcephally
  • feeding difficulties, reflux, and vomiting
  • white matter hypodensity of the brain


Some children also may have these symptoms:

  • elevated liver enzymes, especially between ages 1 and 2, but without accompanying jaundice or liver enlargement
  • chilblains, which are sores on the feet
  • erythematous skin, which means red skin, especially in the hands, feet, cheeks, and ears. This may be a histamine reaction and can be
  • reduced by anti-histamines and by avoiding cold.
  • calcifications can be in subcortical and periventricular areas of the brain also
  • biopsies may show tubular reticular inclusions, which is what interferon looks like inside a cell