What causes Aicardi syndrome?
Last updated September 7, 2026.
**The cause of Aicardi syndrome is unknown, but researchers suspect a new genetic change on the X chromosome.** The responsible gene has not been identified, and nearly all cases occur without a family history. The condition primarily affects girls and involves differences in brain and eye development, often with seizures beginning in infancy. You need a specialist evaluation to understand whether your child's findings fit this condition. If your child has Aicardi syndrome, keeping a seizure log and attending neurology and eye appointments can help guide care.
What to do
- **Seek an evaluation:** Ask your child's clinician about pediatric neurology and eye examinations if Aicardi syndrome is suspected.
- **Report new spasms promptly:** Contact your child's clinician immediately about repeated brief jerks or sudden bending movements.
- **Track seizures:** Record when your child's episodes happen and how long they last to help guide treatment.
- **Discuss family planning:** Ask a genetics specialist to explain recurrence risk and the limits of genetic testing.
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