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Aicardi syndrome

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Illustrations

Corpus callosum of the brain
Corpus callosum of the brain

Definition    Return to top

Aicardi Syndrome is a rare genetic disorder in which the structure that connects the two sides of the brain (the corpus callosum) is partly or completely missing.

Causes    Return to top

The cause of Aicardi Syndrome is unknown at this time. Some think that, in some cases, is a result of a gene defect on the X chromosome. There are less than 500 cases of Aicardi Syndrome worldwide.

The disorder affects only girls.

Symptoms    Return to top

Symptoms usually start when the child is between ages 3 and 5 months. The condition causes infantile spasms (jerking), a type of childhood seizure. Other symptoms include mental retardation and lesions on the retina of the eye or optic nerve.

Aicardi Syndrome may be associated with other brain defects.

Other symptoms may include:

Exams and Tests    Return to top

Children are diagnosed with Aicardi Syndrome if they meet the following criteria:

However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. In such cases, the diagnosis can probably be made if two or more of the following criteria are present:

Tests to diagnose Aicardi Syndrome include:

Other procedures and tests may be performed depending on the individual person.

Treatment    Return to top

There is no standard treatment for Aicardi Syndrome. Treatment involves managing seizures and any other health concerns and programs to help the family and child cope with delays in development.

Support Groups    Return to top

Aicardi Syndrome Foundation - www.aicardisyndrome.org

National Organization for Rare Disorders (NORD) - www.rarediseases.org

Outlook (Prognosis)    Return to top

The outlook depends on how severe the symptoms are and what other health conditions are present. Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. The degree or level of vision varies from normal to blind.

Possible Complications    Return to top

Complications vary according to the degree and severity of symptoms.

When to Contact a Medical Professional    Return to top

Call your health care provider if a child has symptoms of Aicardi Syndrome. Seek emergency care if an infant is having spasms or seizure.

Update Date: 9/25/2006

Updated by: Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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