Site Map

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality; Agenesis of corpus callosum with infantile spasms and ocular abnormalities; Callosal agenesis and ocular abnormalities; Chorioretinal anomalies with ACC

Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of the brain (called the corpus callosum) is partly or completely missing. Nearly all known cases occur in people with no history of the disorder in their family (sporadic).

Images

I Would Like to Learn About:

Causes

The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the X chromosome.

The disorder affects only girls.

Symptoms

Symptoms most often start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure.

Aicardi syndrome may occur with other brain defects.

Other symptoms may include:

• Coloboma (cat's eye)
• Intellectual disability
• Smaller-than-normal eyes (microphthalmia)

Exams and Tests

Children are diagnosed with Aicardi syndrome if they meet the following criteria:

• Corpus callosum that is partly or completely missing
• Female sex
• Seizures (typically beginning as infantile spasms)
• Sores on the retina (retinal lesions) or optic nerve

In rare cases, one of these features may be missing (especially lack of development of the corpus callosum).

Tests to diagnose Aicardi syndrome include:

• CT scan of the head
• EEG
• Eye exam
• MRI

Other procedures and tests may be done, depending on the person.

Treatment

Treatment is done to help prevent symptoms. It involves managing seizures and any other health concerns. Treatment uses programs to help the family and child cope with delays in development.

Support Groups

Aicardi Syndrome Foundation -- ouraicardilife.org

National Organization for Rare Disorders (NORD) -- rarediseases.org

Outlook (Prognosis)

The outlook depends on how severe the symptoms are and what other health conditions are present.

Nearly all children with this syndrome have severe learning difficulties and remain completely dependent on others. However, a few have some language abilities and some can walk on their own or with support. Vision varies from normal to blind.

Possible Complications

Complications depend on the severity of symptoms.

When to Contact a Medical Professional

Contact your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.

References

American Academy of Ophthalmology website. Aicardi syndrome. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Updated September 2, 2020. Accessed October 25, 2022.

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 609.

Samat HB, Flores-Samat L. Developmental disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 89.

BACK TO TOP

Review Date: 7/28/2022  

Reviewed By: Charles I. Schwartz, MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

Health Content Provider 06/01/2025

A.D.A.M., Inc. is accredited by URAC, for Health Content Provider (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics. This site complied with the HONcode standard for trustworthy health information from 1995 to 2022, after which HON (Health On the Net, a not-for-profit organization that promoted transparent and reliable health information online) was discontinued.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- 2024 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.