The syndrome of Aicardi is a genetic disease touching only the girls characterized by the association of a severe epilepsy, a Agénésie of the callous body and ocular anomalies concerning the Choriorétine. With the neurological examination, one finds a microcephalus, an axial hypotonia with hypertonicity of the ends. The delay with the development and a intellectual delay is constant. The epilepsy often occurs before three months and almost all the children have an epilepsy before one year. The epilepsy is of any type the crises become refractory with time. The vertebral anomalies are frequent and responsible for scoliosis in a third of the individuals.

This association involves a serious polyhandicap. Certain little girls walk, the language is seldom present, but that does not exclude any form from communication.

The other anomalies include/understand characteristic facial anomalies, gastro-intestinal disorders, vascular small hands, malformations and lesions of the skin. an increase in the tumors, pigmentary lesions of the skin, a deceleration of the growth towards the 7 years age and of the disorders of puberty.

The syndrome of Aicardi can be detected first months of the life (epilepsy, driving disorders).

Survival is very variable, with an Middle Age of death of 8 years and a median age around 18 years.

The syndrome of Aicardi was identified in 1965 by the professor Jean Aicardi.

Criteria of diagnosis of the syndrome of Aicardi

Sources

• V Reid Sutton, Ignatia B Van den Veyver, Aicardi Syndrome In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.

External bonds

• aicardi.info