Aicardi syndrome--Health-overview.com.

What is Aicardi syndrome?

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, but has been estimated at 300 - 500 worldwide. Aicardi Syndrome is a rare genetic disorder characterized by the partial or complete absence of the structure that links the two hemispheres of the brain, the corpus callosum. The disorder affects only girls. Onset of Aicardi Syndrome generally begins between the ages of 3 and 5 months with infantile spasms, a type of childhood seizure. Symptoms include seizures, mental retardation and lesions on the retina of the eye that are specific to the disorder. Aicardi Syndrome may be associated with other brain defects such as a smaller than average brain and cavities or gaps in the brain filled with cerebrospinal fluid.

Aicardi syndrome is characterized by the following "markers":

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.)

Infantile spasms (a form of seizures)

Lesions or "lacunae" of the retina of the eye that are very specific to this disorder

Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue)

Is there any treatment?

There is no cure for Aicardi Syndrome nor is there a standard course of treatment. Treatment generally involves medical management of seizures and programs to help parents and the child cope with developmental delays.

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.

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. 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.

What is the prognosis?

The prognosis for girls with Aicardi Syndrome varies according to the severity of their symptoms.

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.