Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series

Abstract

Objectives To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. Methods 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. Results 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%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient. Conclusion 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.

Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

“…Studies of prenatal scans reveal that congenital ACs usually arise as midline cysts [ 14 ], often associated with anomalies causing ventriculomegaly and callosal abnormalities [ 15 ]. The presumed X-linked condition Aicardi, where the disease-causing gene is unknown, the X-linked dominant orofaciodigital syndrome caused by pathogenic variants in OFD1, and the autosomal recessive Chudley–McCullough syndrome with pathogenic GPSM2 gene variants often have interhemispheric ACs in addition to other symptoms [ 16 – 19 ]. Pathogenic FOXC2 gene variants cause lymphedema-distichiasis syndrome and have been associated with spinal extradural arachnoid cysts in several publications [ 10 , 11 , 13 , 20 – 22 ].…”

Neurosonographic and MRI diagnosis of fetal cerebral lesions heralding polymicrogyria

“…Specifically, the prenatal triad includes: ACC; interhemispheric cysts; and distortion of the interhemispheric fissure 15 . Among the other associated intracranial malformations, malformations of cortical development, including abnormal gyration/sulcation, are present in 94% of cases of Aicardi syndrome 15 (Figure 4). These premature and abnormal gyri have been shown to evolve postnatally into PMG 6,7 .…”

“…This is a rare neurodevelopmental disorder, defined after birth by a triad of total or partial agenesis of the corpus callosum (ACC), typical chorioretinal lacunae and infantile spasms, that affects almost exclusively females. ACC is the most common anomaly, being present in >95% of cases 15 , but a wide range of associated cerebral anomalies have been described in affected individuals. The neurosonographic recognition of these anomalies together with ACC in a female fetus are the criteria proposed for a diagnosis of Aicardi syndrome.…”

“…The neurosonographic recognition of these anomalies together with ACC in a female fetus are the criteria proposed for a diagnosis of Aicardi syndrome. Specifically, the prenatal triad includes: ACC; interhemispheric cysts; and distortion of the interhemispheric fissure 15 . Among the other associated intracranial malformations, malformations of cortical development, including abnormal gyration/sulcation, are present in 94% of cases of Aicardi syndrome 15 (Figure 4).…”

Agenesis of the corpus callosum: What to tell expecting parents?

“…Some of the most common genetic conditions associated with ACC, as well as their likely additional CNS abnormalities are listed in Table 1 16,33–40 . Genetic conditions associated with abnormal development of the CC can be either chromosomal or monogenic (single causative gene).…”