Aicardi-Goutières-Syndrom

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).

Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after Jean Aicardi (see below).

Clinical presentation

The typical presentation in infancy is with a triad of:

Pathology

Characteristic malformations affect the brain, spine and eyes and include:

History and etymology

First described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French neuropaediatrician .