What is Aicardi Syndrome?
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.)
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 children cope with developmental delays.
Long-term management by a pediatric neurologist with expertise in the management
of infantile spasms is recommended.
What is the prognosis?
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.
What research is being done?
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.
Organizations
Aicardi Syndrome Foundation
P.O. Box 3202
St. Charles, IL 60174
www.aicardisyndrome.org
Tel: 800.374.8518
Aicardi Syndrome Newsletter, Inc.
1510 Polo Fields Court
Louisville, KY 40245
aicnews@aol.com
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
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
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
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
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
www.nimh.nih.gov
Tel: 301.443.4513/866.415.8051 301.443.8431 (TTY)
Fax: 301.443.4279
Source: National Institutes of Health; The
National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 3/12/2009...#6028
