AICARDI SYNDROME

What Is Aicardi Syndrome?

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.

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.

What Is the Prognosis?

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

What Research Is Being Done?

The National Institute of Neurological Disorders and Stroke, a part of the National Institutes of Health, supports and conducts research on neurogenetic disorders such as Aicardi Syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent and ultimately cure the disorder.