"Aicardi syndrome was first described in 1961 by Jean Francois Marie Aicardi (1926-2015), a French paediatric neurologist 2."
"Due to its rarity, epidemiological data is limited. However, its incidence has been postulated at ~1/100000, with a prevalence of over 850 cases in the US and 4,000 globally 10. No ethnicity bias has been found 5. Peculiarly, it only manifests in females, except for rare 47,XXY cases 10."
"Due to its rarity, epidemiological data is limited. However, its incidence has been postulated at ~1/100000, with a prevalence of over 850 cases in the US and 4,000 globally 10. No ethnicity bias has been found 5. Peculiarly, it only manifests in females, except for rare 47,XXY cases 10."
"chorioretinal lacunae: punched out lesions in the pigmented layer of retina, usually around the optic disc 8; almost pathognomonic 9"
"Characteristic malformations affect the brain, spine and eyes and include:"