Definition – Congenital syndrome with three main features:
- Agenesis or dysgenesis of the corpus callosum
- Infantile spasms and/or epilepsy
- Chorioretinal lacunae
Clinical Significance – Occurs almost exclusively in females and clinical findings can include:
- Asymmetry of cerebrum
- Ventricular cysts
- Severe developmental delay and disability
- Ocular abnormalities (microphthalmia, colobomo)
- Short philtrum with flat nose and upturned ears
- Sparse eyebrows
- Small hands
- Spinal abnormalities
History – Named after Dr. Jean Fraçois Marie Aicardi, who is a French pediatrician, and first published and described this disorder in two girls in 1965.
- Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
- Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
- Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com/
J. Aicardi, J. Lefebvre, A. Lerique-Koechlin. A new syndrome: Spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalography and Clinical Neurophysiology. 1965;19:609-610.