Aicardi syndrome

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Aicardi syndrome is a rare genetic condition that affects 300-500 people worldwide, nearly all of them females.
Symptoms of Aicardi syndrome usually first become apparent between three and five months of age. Patients with Aicardi syndrome may exhibit spasms, seizures, mental insufficiency, and/or lesions on the retina.
Many patients with Aicardi syndrome have a partial or complete absence of the corpus callosum, which is a structure in the brain that connects the left half of the brain to the right half.
Aicardi syndrome is typically diagnosed with a clinical examination to check for symptoms. Currently, there is no known way to prevent Aicardi syndrome. Lifespan can vary among patients with Aicardi syndrome, but most patients do not survive past the first or second decade.
Many children with Aicardi syndrome experience lung complications. Patients may have difficulty breathing due to weakened lung muscles; infection of the lungs (such as pneumonia) is a major cause of death. Children with Aicardi syndrome are also more likely to develop tumors, which may cause death in some patients.

Related Terms

Brain defects, corpus callosum, eye defects, seizures, spasms, mental insufficiency.