Symptoms:

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.

Treatment:

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:

Aicardi Syndrome Foundation - www.aicardisyndrome.org

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

Expectations (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.

Complications:

Complications depend on the severity of symptoms.

Calling your health care provider:

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.