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  • Updated 02.11.2024
  • Released 09.05.1996
  • Expires For CME 02.11.2027

Aicardi syndrome



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, heterotopia); 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 eight 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 eight) 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" (85). 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

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