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Last updated: 8/25/2023
Years published: 1985, 1987, 1992, 1993, 1995, 1999, 2006, 2007, 2009, 2012, 2015, 2018, 2023
NORD gratefully acknowledges V. Reid Sutton, MD, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Childrenโs Hospital, for assistance in the preparation of this report.
Summary
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 seizure known as โinfantile spasmsโ. These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These seizures look different from the more common type of seizures known as โgeneralized tonic-clonicโ 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.
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), 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 vertebral bones. In addition to the agenesis of the corpus callosum, imaging of the brain (by brain MRI) usually shows cysts in the brain as well as clumps of nerve cells that are in the wrong location (heterotopias). Children of all ages with Aicardi syndrome have significant delays in motor development. Aicardi syndrome can be life-threatening during childhood due to prolonged seizures and complications from upper respiratory infections.
Aicardi syndrome is likely caused by a new change (variant or mutation) in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi syndrome was not confirmed in a large cohort of other girls with Aicardi syndrome. Thus, these genes do not seem to be the cause of Aicardi syndrome. This condition is presumed to be lethal in males.
The parents of a female with Aicardi syndrome are 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 people reported to have Aicardi syndrome worldwide. There do not appear to be any differences based on race or ethnicity.
An MRI of the brain is usually the first step in diagnosing Aicardi syndrome. This study takes 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, and no specific seizure medication works for all girls with Aicardi syndrome. The doctor may need to try several medicines to see which medication works best.
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
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Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/for-patients-and-families/information-resources/info-clinical-trials-and-research-studies/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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.
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.
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.
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
Sutton VR, Van den Veyver IB. Aicardi Syndrome. 2006 Jun 30 [Updated 2020 Nov 12]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviewsยฎ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1381/ Accessed August 23, 2023.
NINDS Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Last reviewed on January 31, 2023
https://www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Syndrome-Information-Page Accessed August 23, 2023.
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). Aicardi Syndrome. Updated: 09/11/2012. Available at https://omim.org/entry/304050 Accessed August 23, 2023.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report
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