Aicardi Syndrome

Definition – Congenital syndrome with three main features:

1. Agenesis or dysgenesis of the corpus callosum
2. Infantile spasms and/or epilepsy
3. Chorioretinal lacunae

Clinical Significance – Occurs almost exclusively in females and clinical findings can include:

• Asymmetry of cerebrum
• Ventricular cysts
• Microcephaly
• 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.

References

1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com/
5. 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.