Aicardi syndrome
Aicardi syndrome is an X -chromosomal, dominantly inherited congenital malformation with changes in the brain, the eyes and the body skeleton, ribs and spine. She was described in 1969 by French neurologist Jean Aicardi for the first time. The change of the brain is characterized by a pronounced corpus callosum agenesis, a malformation of the bar between the halves of the brain. The changes in the eye are mainly malformations of the retina and choroid plexus. In the trunk skeletal changes are scoliosis, often with vertebral malformations (mergers, Segmentation ), but also ribs anomalies.
The disease is one of about one case per 100,000 births ( almost exclusively in girls: Gynäkotropie ) to rare diseases. There is a mutation of the X-chromosome, which is lethal in male fetuses, as a rule, since they have only one X - chromosome.
Children with Aicardi syndrome remain in the cognitive and motor development. They show muscle spasms ( myoclonus ) and epileptic seizures (such as West syndrome ). The life expectancy is considered to be significantly limited.
Aicardi - Goutières syndrome is an entirely different hereditary brain development disorder.