Ep-PAINE-nym



Aicardi Syndrome

DefinitionCongenital 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.

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