Aicardi-Goutières syndrome

In 1984, Jean Aicardi and Françoise Goutières, two French pediatric neurologists, described a genetic brain disease beginning in childhood that mimics the characteristics of viral infections that children suffer from in the womb.

Clinical indicators of this disease, now known as Aicardi-Goutières syndrome (AGS) include:

  • Calcium build-up (calcification) in the brain, best observed by CT scan
  • Changes in the white matter of the brain and spinal cord, best seen by MRI
  • High levels of white blood cells, alpha interferon, and pterins (proteins produced by the body to fight a viral infection) in the cerebrospinal fluid (which can be tested by lumbar puncture)

Distinctive frostbite-like lesions on the hands and feet, usually more severe in the cold

Genetic

Aicardi-Goutières syndrome is usually an inherited genetic disorder with autosomal recessive inheritance. This means that for a couple with an affected child, there is a 1 in 4 risk of having a sick child with each pregnancy. Three cases were identified with transmission of the “new dominant” type. In these rare cases, the risk of recurrence is very low.