| Aicardi syndrome is a rare disorder that affects females, and whose features include partial or compete agenesis of the corpus collosum (the structure that connects to the two halves of the brain), seizures that are difficult to control with antiseizure medications, mental retardation and abnormalities of the retina in the eye (especially colobomas).
The kind of seizures that infants with Aicardi syndrome usually have are infantile spasms. These seizures consist of symmetric and brief clusters of spasms of the muscles of the neck, trunk or limbs. An EEG can help to diagnose if your child is having infantile spasms, because it will show a very characteristic, abnormal pattern called hypsarrhythmia. Treatment of infantile spasms can be very difficult and your child may require treatment with many different types of medications, including clonazepam, valproate, pyridoxine, and hormonal therapy with adrenocorticotropic hormone (ACTH) or corticosteroids.
Agenesis of the corpus collosum can occur by itself, without seizures, mental retardation or other medical problems. These children will usually be normal without other brain or developmental abnormalities.
Resource List for Aicardi Syndrome:
- Aicardi Syndrome Foundation: web page of the Aicardi Syndrome Foundation, a not-for-profit organization that provides funds for the purchase of medical and adaptive equipment for affected daughters, publication and distribution of the Aicardi Syndrome Newsletter and contributes to ongoing research into the causes of Aicardi syndrome.
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