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:
-
Coloboma (cat's eye) Mental retardation - Smaller-than-normal eyes (microphthalmia)
Signs 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.
Images
Previous Section
Review Date: 08/26/2010
Reviewed 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.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
