Aicardi syndrome: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

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)

Diagnosis & 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
* Eye exam

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

Aicardi syndrome: Overview, Causes

Aicardi syndrome: Symptoms & Signs, Diagnosis & Tests

Aicardi syndrome: Treatment

Review Date : 8/26/2010
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.
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