Aicardi syndrome Q04:_

The Aicardi syndrome is named after the French neurologist Jean Aicardi, who described the syndrome in 1969.

The x-linked dominant inherited syndrome is characterized by various congenital malformations, especially in the brain: in the affected individuals, the connection between the two hemispheres of the brain (the brain bar or corpus callosum) Aicardi syndrome is faulty or not developed at all (so-called corpus callosum agenesia). In addition, malformations of the spinal column, ribs and eyes (microphthalmia; chorioretinopathy) are also found. Furthermore, epileptic-like cramps occur at the age of three to five months.

So far, just over 400 cases have been described worldwide

Life expectancy is reduced. Typically, the disease has a progressive course. The overall movement sequences (motor function) are reduced. Blindness results. Almost all affected persons are severely handicapped physically and mentally. In individual cases, people with Aicardi syndrome reach the fifth decade of life, but many of those affected die before reaching puberty.

1. Mayer UM (1987) Eye findings in Aicardi syndrome. Klin Monbl Augenheilkd 191:304-306.