# Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review

## TL;DR

This case report shows how fetal neuroimaging can help identify Aicardi syndrome before birth, with confirmation after delivery.

## Contribution

The study presents a rare prenatal case of Aicardi syndrome confirmed postnatally and emphasizes the role of fetal imaging in early suspicion.

## Key findings

- Prenatal imaging revealed corpus callosum agenesis and other features suggestive of Aicardi syndrome.
- Postnatal fundoscopic examination confirmed chorioretinal lacunae, confirming the diagnosis.
- The case highlights the importance of multidisciplinary evaluation and counseling in managing AIC.

## Abstract

Aicardi syndrome (AIC) is a congenital condition involving characteristic neurological and ocular abnormalities. We describe a 30-year-old pregnant woman referred at 32 weeks of gestation after an ultrasound at 29 weeks showed corpus callosum agenesis, an interhemispheric arachnoid cyst, and colpocephaly. These findings raised prenatal suspicion of AIC. Postnatal evaluation confirmed the diagnosis with the identification of chorioretinal lacunae on fundoscopic examination. In this case, the prenatal imaging findings were key to recognizing a pattern suggestive of AIC, while postnatal assessment provided the definitive confirmation. This report highlights the role of detailed fetal neuroimaging in raising suspicion of AIC during pregnancy and underscores the importance of coordinated postnatal evaluation and multidisciplinary counseling.