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Aicardi syndrome

Definition

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, incidence, and risk factors

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

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.

Prevention

References

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.