Agenesis of Corpus Callosum with Chorioretinitis Abnormality; Agenesis of Corpus Callosum with Infantile Spasms and Ocular Anomalies; Callosal Agenesis and Ocular Abnormalities; Chorioretinal Anomalies with ACC; Corpus Callosum, Agenesis of Chorioretinal Abnormality

Aicardi syndrome is an extremely rare genetic disorder characterized by a lack of a corpus callosum (tissue connecting the left and right halves of the brain), seizures, lesions on the back of the eye (retina), and other brain and eye abnormalities. This condition is present at birth and occurs almost exclusively in females. The exact cause of Aicardi syndrome is unknown, but it has been attributed to mutations in a gene located on the X chromosome.

NOTE: Aicardi syndrome is not the same as the CAL condition Aicardi Goutières syndrome. These conditions have different causes and symptoms.

Diagnostic testing: The diagnosis of Aicardi syndrome is made by:

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  Electroencephalogram (EEG);

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  Eye exam;

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  Computed tomography (CT) scan of the head;

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  Prenatal ultrasound; and

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  Magnetic resonance imaging (MRI).

Signs and symptoms: Signs and symptoms of Aicardi syndrome include:

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  Abnormality of retinal pigmentation;

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  Developmental delay;

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  Infantile spasms;

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  Intellectual disability;

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  Large ears;

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  Short space between upper lip and nose (philtrum);

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  Small head size (microcephaly);

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  Small, malformed hands;

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  Spine and rib abnormalities;

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  Seizures;

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  Partial or completely missing corpus callosum;

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  Sores on the retina (retinal lesions);

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  Microphthalmia (smaller than normal eyes);

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  Thin eyebrows; and

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  Weak, floppy, and uncoordinated muscles (hypotonia).

ICD-9: 345.1; 742.2

ICD-10: Q04.0

The severity of Aicardi syndrome varies. Some individuals with this disorder have very severe epilepsy and may not survive past childhood. Less severely affected individuals may live into adulthood with milder signs and symptoms. Aicardi syndrome is a lifelong condition without a cure. Individuals will need support throughout their life, including ongoing medical care, therapies, and other supportive services.

Treatment for Aicardi syndrome varies based on symptoms. Antiseizure medications can help regulate seizures. Sometimes, seizures are difficult to treat. There is no single medication that works well for all individuals with this condition. Implantable devices, such as a vagus nerve stimulator, may be used to help regulate brain activity. This may be an option if medication therapy management isn’t successful.

Other types of therapy may include:

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  Physical therapy;

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  Occupational therapy; and

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  Speech therapy.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  EEG results;

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  Eye examination results;

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  Genetic testing;

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  Prenatal ultrasound results; and

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  Results of MRI.

Suggested Listings for Evaluation:

12.05

102.02

111.02

112.05

112.14