Aicardi syndrome

Last revised by Yaïr Glick on 21 Dec 2021

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).

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

Due to its rarity, epidemiological data is limited, however its incidence has been postulated ~1/100000 with a prevalence of over 850 cases in the US and 4,000 globally. No ethnicity bias has been found 5.

The typical presentation in infancy is with a triad of:

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

First described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French neuropaediatrician 2.

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