Aicardi Syndrome

Introduction

Aicardi syndrome is a rare disorder passed down through families (inherited) in which the structure that connects the two sides of the brain (called the corpus callosum) is partly or completely missing (Young & Andreas, 2010).

General Information and Description

Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately. Several hundred have been reported on in the literature, and one study estimates at least 800 cases in the US, and several thousand worldwide. Aicardi syndrome is characterized by the following "markers" (Kinsman & Johnston: 85):

Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left.)

Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). It is theorized to result from a defect on an x-chromosome, though until the gene is found, this cannot be confirmed. There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene. A more detailed explanation of the genetics of Aicardi syndrome can be found here.

Children are most commonly identified with Aicardi Syndrome before the age of 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 known age range of affected children is from birth to the late forties (Glasmacher & Sutton et al: 176).

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation. Published medical information in professional journals is somewhat limited and these articles are written by and for specialists. A listing of some journal articles with links to their abstracts (and full text when freely available) can be found here. Genetic research is ongoing into the cause of this disorder and the Aicardi Syndrome Foundation and newsletter member families continue to be active participants in several research projects.

Causes

The cause of Aicardi syndrome is unknown at this time. ...