To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MRI.

Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000 – 2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis.

Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry (14/20, 70%)) and less frequently extra-CNS anomaly (ocular anomalies (7/11, 64%), costal/vertebral segmentation defect (4/20, 20%)) represents a highly suggestive pattern of Aicardi syndrome in a female patient.

Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.

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