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Aicardi Syndrome

NORD is very grateful to V. Reid Sutton, MD, Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children's Hospital, for assistance in the preparation of this report.

Synonyms of Aicardi Syndrome

  • agenesis of corpus callosum with chorioretinitis abnormality
  • agenesis of corpus callosum with infantile spasms and ocular anomalies
  • callosal agenesis and ocular abnormalities
  • chorioretinal anomalies with ACC
  • corpus callosum, agenesis of chorioretinal abnormality

Disorder Subdivisions

  • No subdivisions found.

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.

Related Disorders

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 right and left sides 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.)

Standard Therapies

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.

Investigational Therapies

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.

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:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Aicardi Syndrome

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.

FROM THE INTERNET
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;7/22/11.

Sutton VR, Van den Veyver IB. Aicardi syndrome. Last Update: April 27, 2010. 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: September 29, 2011
www.ninds.nih.gov/disorders/aicardi/aicardi.htm

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2012/01/04 00:00:00 GMT+0

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