Sign Up for a Free Account
  • Updated 11.07.2020
  • Released 09.05.1996
  • Expires For CME 11.07.2023

Aicardi syndrome

Introduction

Overview

The author has a special interest in genetic malformations of the brain and has made significant contributions to this field. In this article, he updates our knowledge of Aicardi syndrome, including the newest findings by MR and genetics.

Key points

• Aicardi syndrome affects only girls, with rare exceptions in poly-x males.

• The original definition of Aicardi syndrome encompassed infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae (also known as pseudo-colobomata).

• Other additions to this core complex include other neuronal migration defects (eg, polymicrogyria, heterotopias); cerebral, cerebellar, costovertebral, and other ocular anomalies; distinctive facial traits; and a liability to develop intra- and extracranial neoplasms.

• The cause of the syndrome has yet to be clarified.

• Although the gene associated with this disorder is not known, it is believed to be located on the X chromosome.

Historical note and terminology

In 1965 Aicardi, Lefebvre, and Lerique-Koechlin reported 8 cases of children with "spasms in flexion, callosal agenesis, and ocular abnormalities." In 1969 Aicardi, Chevrie, and Roussellie published their collective experience with 15 cases (including the previously presented 8) under the title "le syndrome spasmes en flexion, agenesies calleuse, anomalies chorioretiniennes" (02). In 1972 Dennis and Bower reported it as "the Aicardi syndrome."

Earlier cases with similar features were reported, but not recognized as specific entities. Sabin and Feldman reported "chorioretinopathy associated with other evidence of cerebral damage in childhood" (81). They considered it a "syndrome of unknown etiology separable from congenital toxoplasmosis."

Several internet websites now contain relevant information and links to parent support groups and other reference sources:

Our Aicardi Life

Genetics Home Reference: Aicardi syndrome

This is an article preview.
Start a Free Account
to access the full version.

  • Nearly 3,000 illustrations, 
including video clips of 
neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of 
neurology in 1,200 
comprehensive articles.

Questions or Comment?

MedLink, LLC

10393 San Diego Mission Rd, Suite 120

San Diego, CA 92108-2134

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660

Support: service@medlink.com

Editor: editor@medlink.com