Aicardi Syndrome

National Organization for Rare Disorders, Inc.

Skip to the navigation

Important

It is possible that the main title of the report Aicardi Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual (maybe impossible) to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as "infantile spasms". These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as "generalized tonic-clonic" seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.

Symptoms

Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), an abnormally small head (microcephaly), abnormally small eyes (microphthalmia), an incomplete development of the retina and nerve in the back of the eye (colobomas), and/or abnormalities of the ribs and/or spinal column. Children of all ages with Aicardi syndrome have significant delay in motor development. Aicardi syndrome can be life-threatening during childhood due to complications from upper respiratory infections.

Causes

Aicardi syndrome is likely caused by a new mutation in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. This gene mutation is thought to be lethal in males.



The parents of a female with Aicardi syndrome are typically unaffected. Transmission of Aicardi syndrome from an affected mother to her child has not been reported. Other family members are also not usually at increased risk.

Affected Populations

Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 cases of Aicardi syndrome worldwide. There do not appear to be any differences based on ethnicity or gender.

Diagnosis

It is usual, to have an MRI of the brain. This study makes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Individuals with Aicardi syndrome should have a test to look at the brain waves (EEG) to diagnose and treat seizures. An ophthalmologist should look into the eyes at the retina. In Aicardi syndrome, this almost always reveals small cream-colored cavities (lucunae) within the retina.

Standard Therapies

Treatment

Medications may be used to suppress the seizures caused by Aicardi syndrome. The seizures are often hard to treat. The doctor may need to try a number of medicines to see which medication works best. Studies have shown that there is not one medicine that works for everyone with Aicardi syndrome.

Investigational Therapies

Information on current clinical trials is posted on the Internet at <a title="Clinical Trials" href="http://www.clinicaltrials.gov" target="_blank">www.clinicaltrials.gov</a>. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: <a title="prpl@cc.nih.gov" href="mailto:prpl@cc.nih.gov" target="_blank">prpl@cc.nih.gov</a>



For information about clinical trials sponsored by private sources, contact:

<a title="Centerwatch" href="http://www.centerwatch.com" target="_blank">www.centerwatch.com</a>



For information about clinical trials conducted in Europe, contact:

<a title="Clinical Trial Register" href="https://www.clinicaltrialsregister.eu/" target="_blank">https://www.clinicaltrialsregister.eu/</a>

References

TEXTBOOKS

Schneider A. Aicardi Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:509-10.



Menkes JH, Pine Jr JW, et al., eds. Textbook of Child Neurology. 5th ed. Williams & Wilkins. Baltimore, MD; 1995:279; 748.



Behrman RE, Kliegman RM, Jenson HB., eds. Nelson Textbook of Pediatrics. 17th ed. Elsevier Saunders. Philadelphia, PA; 2005:1988;2006.



Kanski JJ, ed. Clinical Ophthalmology. 4th ed. Butterworth-Heinemann. Oxford, UK; 1999:609.



JOURNAL ARTICLES

Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neruoimaging aspects of Aicardi syndrome. Am J Med Genet A 2008;146A(22):2871-8.



Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol 2007;22(2):176-84.



Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence and survival of Aicardi syndrome in 408 cases. J Child Neurol 2008;23(5):531-5



Prats Vinas JM, Martinez Gonzalez MJ, Garcia Ribes A, Maryinez Gonzalez S, Martinez Fernandez R. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy? Dev Med Child Neurol. 2005;47:419-20.



Aicardi J. Aicardi syndrome. Brain Dev. 2005;27:164-71.



Lim SA, Siatkowski RM. Peditric neuro-ophthalmology. Curr Opin Ophthalmol. 2004;15:437-43.



Chan V. Karvelas G, Jacob P, Carmant L. Early treatment of Aicardi syndrome with vigabatrin can improve outcome. Neurology. 2004;63:1756-57.



Rosser T. Aicardi syndrome. Arch Neurol. 2003;60:1471-73.



INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University.Aicardi Syndrome. Available at <a href="http://omim.org/entry/304050">//omim.org/entry/304050</a> last edit date: 09/11/2012. Accessed March 5, 2015.



Sutton VR, Van den Veyver IB. Aicardi Syndrome. 2006 Jun 30 [Updated 2014 Nov 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: <a href="http://www.ncbi.nlm.nih.gov/books/NBK1381/">//www.ncbi.nlm.nih.gov/books/NBK1381/</a> Accessed March 5, 2015.



NINDS Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Last updated September 4, 2012.

<a href="http://www.ninds.nih.gov/disorders/aicardi/aicardi.htm">www.ninds.nih.gov/disorders/aicardi/aicardi.htm</a> Accessed March 5, 2015.

Supporting Organizations

Aicardi Syndrome Foundation

PO Box 3202
St. Charles, IL 60174
Tel: (800)374-8518
Email: foundation@aicardisyndrome.org
Website: https://aicardisyndromefoundation.org/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: //rarediseases.info.nih.gov/GARD/

Lighthouse International

111 E. 59th Street
The Sol and Lillian Goldman Building
New York, NY 10022-1202
USA
Tel: (800) 284-4422
Email: info@lighthouse.org
Website: //www.lighthouse.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: //www.marchofdimes.org and nacersano.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: //www.ninds.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: //www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.