Its severity is to some extent determined by the extent of the underlying brain abnormality. The majority of recognised cases are severely affected with persisting epilepsy. Life expectancy can be severely limited. There are some children with a milder structural brain abnormality who, although suffering visual handicap and learning difficulties, may have some understanding of language, some independent mobility and be responsive to their environment. Aicardi syndrome is not the same as, and has no link to, a separate neurological condition referred to as Aicardi-Goutiers syndrome.
Inheritance patterns The condition only occurs in girls.
This is explained genetically by it being an X-linked dominant condition with lethality in males. Reoccurrence within a family appears to be extremely uncommon. Although structural brain abnormalities may sometimes be evident on antenatal ultrasound scan, this is not the case in the majority of cases of Aicardi syndrome. There is no prenatal diagnosis available. The information below has been drawn up by Dr Orlee Udwin of the Society for the Study of Behavioural Phenotypes.