Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
The cause of Aicardi Syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the X chromosome.
The disorder affects only girls.
Symptoms usually start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure.
Aicardi Syndrome may occur with other brain defects.
Other symptoms may include:
- Coloboma (cat's eye)
- Mental retardation
- Smaller-than-normal eyes (microphthalmia)
Treatment is supportive. It involves managing seizures and any other health concerns, and using programs to help the family and child cope with delays in development.
The outlook depends on how severe the symptoms are and what other health conditions are present.
Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. Vision varies from normal to blind.