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Medical Encyclopedia |
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Definition Return to top
Aicardi Syndrome is a rare inherited (genetic) disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
Causes Return to top
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 Return to top
Symptoms usually 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 Return to top
Children are diagnosed with Aicardi syndrome if they meet the following criteria:
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 Return to top
Treatment is supportive. It involves managing seizures and any other health concerns, and using programs to help the family and child cope with delays in development.
Support Groups Return to top
Aicardi Syndrome Foundation - www.aicardisyndrome.org
National Organization for Rare Disorders (NORD) - www.rarediseases.org
Outlook (Prognosis) Return to top
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 Return to top
Complications depned on the severity of symptoms.
When to Contact a Medical Professional Return to top
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.
References Return to top
Glasmacher MA, Sutton Vr, Hopkins B, Eble T, Lewis RA, Park Parsons D, et al. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007;22:176-184.
Kinsman SL, Johnston MV. Congenital Abnormalities of the Central Nervous System. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.
Update Date: 8/1/2008 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
