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 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 seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and mental retardation.
Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, mental retardation, profound muscle weakness (hypotonia), an abnormally small head (microcephaly), abnormally small eyes (microphthalmia), ridges on the eyeball (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.
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.
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 AIC worldwide. There do not appear to be any differences based on ethnicity or gender.
Symptoms of the following disorders can be similar to those of Aicardi Syndrome. Comparisons may be useful for a differential diagnosis:
Agenesis of the corpus callosum is a rare birth defect involving a partial or complete absence of the fibers that connect the cerebral hemispheres of the brain. Sometimes mental retardation may result, but other cases may be without symptoms and the child may have normal intelligence. The early symptoms of this disorder may be grand mal or Jacksonian epileptic seizures. These may occur during the first weeks or within the first 2 years of life. Other early symptoms may include: abnormal accumulation of cerebrospinal fluid around the brain (hydrocephalus), impairment of mental development, and/or delays in physical development. (For more information on this disorder, choose "Agenesis of the Corpus Callosum" as your search term in the Rare Disease Database.)
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.
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.
Treatment Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. 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:
For information about clinical trials sponsored by private sources, contact: www.centerwatch.com
Research A study directed by Dr. Igna Van den Veyver is trying to find the cause of Aicardi syndrome. The clinical trial identifier number for this study is NCT00697411. Individuals interested in this study can contact Tanya Eble at teble@bcm.edu
A study sponsored by the University of California at San Francisco and the University of Chicago is designed to further the understanding of the genetic causes of agenesis of the corpus callosum with the ultimate hope of improving treatment for those affected. The clinical trial identifier number for this test is NCT00305305
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Corpus Callosum, Agenesis of, with Chorioretinal Abnormality. Entry Number; 304050: Last Edit Date; 10/26/2005.
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.
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.
FROM THE INTERNET Sutton VR, Van den Veyver IB. Aicardi syndrome. In: Gene Reviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org
NINDS Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Last updated April28, 2006. 3pp. www.ninds.nih.gov/disorders/aicardi/aicardi.htm
Aicardi Syndrome. Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. Last updated: 27 October 1999. 2pp. www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome015.html
Aicardi Syndrome. Aicardi Syndrome Foundation. nd. 2pp. Support and Contacts. Aicardi Syndrome Foundation. nd. 2pp. Van den Veyver. Research. Aicardi Syndrome Foundation. nd. 4pp. www.aicardisyndrome.org
Aicardi Syndrome Newsletter, Inc. 1510 Polo Fields Ct Louisville, KY 40245 USA Tel: (502)244-9152 Email: AICNews@aol.com Internet: http://www.aicardisyndrome.org
National Association for Visually Handicapped 22 West 21st Street New York, NY 10010 USA Tel: (212)889-3141 Fax: (212)727-2931 Email: staff@navh.org Internet: http://www.navh.org
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910 Tel: (301)565-3842 Fax: (301)565-3843 Tel: (800)433-5255 TDD: (817)277-0553 Email: info@thearc.org Internet: http://www.thearc.org/
Blind Children's Fund 311 W. Broadway Suite 1 Mt. Pleasant, MI 48858 Tel: (989)779-9966 Fax: (989)779-0015 Email: bcf@blindchildrensfund.org Internet: http://www.blindchildrensfund.org
National Institute of Neurological Disorders and Stroke (NINDS) 31 Center Drive 8A07 Bethesda, MD 20892-2540 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 Email: braininfo@ninds.nih.gov Internet: http://www.ninds.nih.gov/
Aicardi Syndrome Awareness and Support Group 29 Delavan Avenue Toronto Ontario, M5P 1T2 Canada Tel: (416) 481-4095 Email: asasn@sympatico.ca Internet: http://www.aicardisyndrome.org/
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: (920)336-5333 Fax: (920)339-0995 Tel: (877)336-5333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/
Aicardi Syndrome Foundation PO Box 3202 St. Charles, IL 60174 Tel: (800)374-8518 Email: foundation@aicardisyndrome.org Internet: http://www.aicardisyndrome.org
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