How is Aicardi Syndrome diagnosed?
If a doctor suspects a child may have Aicardi Syndrome, he will order several 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. If the corpus callosum is developed, the doctor will perform a few more tests.
