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

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.