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NORD gratefully acknowledges V. Reid Sutton, MD, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine & Texas Children’s Hospital, for assistance in the preparation of this report.
Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual (maybe impossible) to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizure known as “infantile spasms”. These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These seizures look different from the more common type of seizures known as “generalized tonic-clonic” seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.
Aicardi syndrome typically begins as involuntary muscle spasms between four months and four years of age. Other symptoms may include epilepsy, intellectual disability, profound muscle weakness (hypotonia), abnormally small eyes (microphthalmia), an incomplete development of the retina and nerve in the back of the eye (colobomas) and/or abnormalities of the ribs and/or spinal vertebral bones. In addition to the agenesis of the corpus callosum, imaging of the brain (by brain MRI) usually shows cysts in the brain as well as clumps of nerve cells that are in the wrong location (heterotopias). Children of all ages with Aicardi syndrome have significant delays in motor development. Aicardi syndrome can be life-threatening during childhood due to prolonged seizures and complications from upper respiratory infections.
Aicardi syndrome is likely caused by a new change (variant or mutation) in a gene located on the X chromosome. The gene that causes Aicardi syndrome is not known. A report describing changes in the genes TEAD1 and OCEL1 in two girls with Aicardi syndrome was not confirmed in a large cohort of other girls with Aicardi syndrome. Thus, these genes do not seem to be the cause of Aicardi syndrome. This condition is presumed to be lethal in males.
The parents of a female with Aicardi syndrome are unaffected. Transmission of Aicardi syndrome from an affected mother to her child has not been reported. Other family members are also not usually at increased risk.
Aicardi syndrome usually affects only females. In very rare cases, males with Klinefelter syndrome (47, XXY) may have Aicardi syndrome. It has been estimated that there are between 300 and 500 people reported to have Aicardi syndrome worldwide. There do not appear to be any differences based on race or ethnicity.
An MRI of the brain is usually the first step in diagnosing Aicardi syndrome. This study takes pictures of the brain to look for a small or missing corpus callosum and other problems with the formation of the brain. Individuals with Aicardi syndrome should have a test to look at the brain waves (EEG) to diagnose and treat seizures. An ophthalmologist should look into the eyes at the retina. In Aicardi syndrome, this almost always reveals small cream-colored cavities (lucunae) within the retina.
Medications may be used to suppress the seizures caused by Aicardi syndrome. The seizures are often hard to treat, and no specific seizure medication works for all girls with Aicardi syndrome. The doctor may need to try several medicines to see which medication works best.
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NINDS Aicardi Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Last reviewed on January 31, 2023
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