Aicardi syndrome

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, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known.

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) infantile spasms (a type of seizure disorder), and 3) chorioretinal 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 feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs.

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 intellectual disability 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, small hands, and an increased incidence of tumors.

(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.

Aicardi syndrome clinical trials
To see clinical trials for Aicardi syndrome, click here.

Organizations
Aicardi Syndrome Foundation
P.O. Box 3202
St. Charles, IL 60174
www.aicardisyndrome.org
800-374-8518

The ARC of the United States
1825 K Street NW, Suite 1200
Washington DC 20006
www.thearc.org
202-534-3700, 800-433-5255

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
www.marchofdimes.org/
914-997-4488, 888-MODIMES (663-4637)

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
www.rarediseases.org
203-744-0100, 800-999-NORD (6673) Voice mail

National Eye Institute (NEI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda MD 20892-2510
www.nei.nih.gov/
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
www.nimh.nih.gov
301-443-4513, 866-415-8051, TTY: 301-443-8431

This information was developed by the National Institute of Neurological Disorders and Stroke, National Institute of Health.

National Institute of Neurological Disorders and Stroke. NINDS Aicardi Syndrome Information Page. Available at: https://www.ninds.nih.gov/health-information/disorders/aicardi-syndrome. Accessed April 18, 2023.

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