Aicardi Syndrome

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Table of Contents (click to jump to sections)
What is Aicardi Syndrome?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations

What is Aicardi Syndrome?

Aicardi Syndrome, or Aicardi-Goutières 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 and has clinical features that often mimic those of viral infections acquired by an infant in utero, which means prior to birth.

Onset of Aicardi-Goutières syndrome may be prior to birth, but generally begins between the ages of 3 and 5 months. Symptoms include infantile seizures (a type of childhood seizure), mental retardation and lesions on the retina of the eye that are specific to the disorder. Aicardi-Goutières syndrome may also be associated with other brain defects such as a smaller than average brain and cavities or gaps in the brain filled with cerebrospinal fluid.

Over 80 percent of families with Aicardi-Goutières syndrome carry mutations in one of four genes that have been associated with the disorder . However, in about 17 percent of cases the genetic defect has not yet been identified.

Is there any treatment?

What is the prognosis?

What research is being done?

Select this link to view a list of studies currently seeking patients.

Organizations

Aicardi Syndrome Foundation P.O. Box 3202 St. Charles, IL   60174 http://www.aicardisyndrome.org Tel: 800-374-8518	Aicardi Syndrome Newsletter, Inc. 1510 Polo Fields Court Louisville, KY   40245 aicnews@aol.com http://www.aicardisyndrome.org Tel: 502-244-9152
The Arc of the United States 1010 Wayne Avenue Suite 650 Silver Spring, MD   20910 Info@thearc.org http://www.thearc.org Tel: 301-565-3842 Fax: 301-565-3843 or -5342	March of Dimes Foundation 1275 Mamaroneck Avenue White Plains, NY   10605 askus@marchofdimes.com http://www.marchofdimes.com Tel: 914-428-7100 888-MODIMES (663-4637) Fax: 914-428-8203
National Organization for Rare Disorders (NORD) P.O. Box 1968 (55 Kenosia Avenue) Danbury, CT   06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291	National Eye Institute (NEI) National Institutes of Health, DHHS 31 Center Drive, Rm. 6A32 MSC 2510 Bethesda, MD   20892-2510 2020@nei.nih.gov http://www.nei.nih.gov Tel: 301-496-5248
National Institute of Mental Health (NIMH) National Institutes of Health, DHHS 6001 Executive Blvd. Rm. 8184, MSC 9663 Bethesda, MD   20892-9663 nimhinfo@nih.gov http://www.nimh.nih.gov Tel: 301-443-4513/866-615-NIMH (-6464) 301-443-8431 (TTY) Fax: 301-443-4279

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Last updated July 02, 2008