Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified. Scientists believe that the gene associated with the condition is located on the X chromosome because nearly all affected individuals are female and the only reports of boys having Aicardi syndrome are in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) Girls with Aicardi syndrome often develop seizures prior to three months and most before one year of age.
Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) complex seizures, generally starting as infantile spasms, and 3) retinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional features.
Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of mental retardation and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, or other characteristic facial features.
(Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)
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 children cope with developmental delays. Long-term management by a pediatric
neurologist with expertise in the management of infantile spasms is recommended.
The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk
for death in childhood and adolescence, but survivors into adulthood have been described.
The NINDS 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 disorders
such as Aicardi syndrome.
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: 301-443-4513/866-415-8051 301-443-8431 (TTY) Fax: 301-443-4279 |
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Last updated November 24, 2008