Health Encyclopedia

Aicardi syndrome

Definition

Aicardi Syndrome is a rare genetic disorder in which the structure that connects the two sides of the brain (the corpus callosum) is partly or completely missing.

Causes, incidence, and risk factors

The cause of Aicardi Syndrome is unknown at this time. Some think that, in some cases, is a result of a gene defect on the X chromosome. There are less than 500 cases of Aicardi Syndrome worldwide.

The disorder affects only girls.

Symptoms

Symptoms usually start when the child is between ages 3 and 5 months. The condition causes infantile spasms (jerking), a type of childhood seizure. Other symptoms include mental retardation and lesions on the retina of the eye or optic nerve.

Aicardi Syndrome may be associated with other brain defects.

Other symptoms may include:

Abnormal ribs or spine
Smaller-than-normal eyes (microphthalmia)
Other eye problems, such as coloboma (cat's eye)
Large differences in the size of the two halves of the brain

Signs and tests

Children are diagnosed with Aicardi Syndrome if they meet the following criteria:

Female sex (or XXY genotype male)
Retinal lesions
Seizures (typically beginning as infantile spasms)
Complete or partial absence of the corpus callosum

However, in rare cases, one of the features, especially lack of development of the corpus callosum, may be missing. In such cases, the diagnosis can probably be made if two or more of the following criteria are present:

Abnormal formations in the brain such as microgyria (the bumps on the brain are abnormally narrow)
Periventricular and subcortical heterotopia, a misplacement of groups of neurons in the brain sometimes found in seizure disorders
Cysts in specific areas of the brain
Benign, non-cancerous tumor found in a specific section of the brain
Optic disc or nerve coloboma

Tests to diagnose Aicardi Syndrome include:

Other procedures and tests may be performed depending on the individual person.

Treatment

There is no standard treatment for Aicardi Syndrome. Treatment involves managing seizures and any other health concerns and 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. The degree or level of vision varies from normal to blind.

Complications

Complications vary according to the degree and severity of symptoms.

Calling your health care provider

Call your health care provider if a child has symptoms of Aicardi Syndrome. Seek emergency care if an infant is having spasms or seizure.

Review Date:9/25/2006
Reviewed By:Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor of Pediatrics, NYU School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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