Aicardi syndrome - Definition and Overview

Aicardi syndrome is a congenital disorder resulting from an abnormality of the X chromosome and characterized by absence of the corpus callosum and retinal abnormalities.

History

It was first described by Jean Aicardi, a french neurologist in 1965.

Epidemiology

There are about 500 cases worldwide, almost all of them in females, because it is lethal in otherwise genetically normal males.

Pathophysiology

Features

Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.

Diagnosis

Aicardi syndrome is characterized by the following "markers":

1. Absence of the corpus callosum, either partial or complete.
2. Infantile spasms
3. Mental retardation
4. Affects females only, or in very rare cases, males with Klinefelter Syndrome
5. Lesions or "lacunae" of the retina of the eye that are very specific to this disorder
6. Other types of defects of the brain such as microcephaly, enlarged ventricles, or porencephalic cysts

Treatment

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Prognosis

The known age range of affected children is from birth to the mid 20’s.