Aicardi syndrome

Aicardi syndrome is a rare genetic malformation syndrome defined by a partial or complete absence of the corpus callosum, the band of fibres joining the two halves of the brain, together with retinal lacunes in the eye and epileptic seizures that take the form of infantile spasms. Other brain and skeletal malformations may also be present, and intellectual disability is usually moderate or severe. It has so far been diagnosed only in girls and in boys who have two X chromosomes, as in Klinefelter syndrome. Symptoms usually appear before about five months of age. Care involves several specialist and habilitation services: epilepsy is treated with medication, early eye examination guides the use of visual aids, gastrointestinal problems are frequent, and support continues into adulthood. The French child neurologist Jean Aicardi described it in eight girls in 1965, and no causative gene has been identified.