This article includes discussion of Aicardi syndrome, alternatively called syndrome of spasms in flexion, callosal agenesis, and ocular abnormalities. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.
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.
• Aicardi syndrome affects only girls, with rare exceptions in poly-x males.
• Other additions to this core complex include vertebral anomalies such as hemivertebrae, cerebral cortical dysplasias (including polymicrogyria and neuronal heterotopias), and a liability to develop intra- and extracranial neoplasms.
• The cause of the syndrome has yet to be clarified.
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" (Aicardi et al 1969). 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" (Sabin and Feldman 1949). 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:
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