Aicardi syndromeAgenesis 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).
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 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:
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:
Other procedures and tests may be done, depending on the person.
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.
Aicardi Syndrome Foundation -- ouraicardilife.org
National Organization for Rare Disorders (NORD) -- rarediseases.org
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.
Complications depend on the severity of symptoms.
When to Contact a Medical Professional
Call your health care provider if your child has symptoms of Aicardi syndrome. Seek emergency care if the infant is having spasms or a seizure.
American Academy of Ophthalmology website. Aicardi syndrome. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Updated September 2, 2020. Accessed September 5, 2020.
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: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 89.
US National Library of Medicine website. Aicardi syndrome. ghr.nlm.nih.gov/condition/aicardi-syndrome. Updated August 18, 2020. Accessed September 5, 2020.
Review Date: 8/29/2020
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.