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Aicardi Syndrome

Abstract

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NORD is very grateful to V. Reid Sutton, MD, Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children's Hospital, for assistance in the preparation of this report.

Synonyms of Aicardi Syndrome

  • agenesis of corpus callosum with chorioretinitis abnormality
  • agenesis of corpus callosum with infantile spasms and ocular anomalies
  • callosal agenesis and ocular abnormalities
  • chorioretinal anomalies with ACC
  • corpus callosum, agenesis of chorioretinal abnormality

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual (maybe impossible) to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as "infantile spasms". These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as "generalized tonic-clonic" seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.

Aicardi Syndrome Resources

Organizations:

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