Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome

Abstract

Cerebral malformations are of fundamental importance in the clinical diagnosis of Aicardi Syndrome (AS). Some of these anomalies like callosal agenesis, cysts formation, posterior fossa anomalies and gross interhemispheric asymmetry are easily observed in the prenatal period with the use of foetal Magnetic Resonance Images (MRI). We present two cases of female newborns with cerebral MRI performed in the prenatal period and further diagnosed with AS. With the increase use of foetal MRI, AS will be easier suspected in the prenatal period in a female fetus with typical brain anomalies.

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

“…To date, in the few sporadic fetal AIC cases reported in literature, iuMRI illustrated only the main features of the syndrome, such as callosal dysgenesis-agenesis, ventriculomegaly, and cortical malformations 9 ; only in few case reports, cysts and nodular heterotopias were also described. 7,8,10 In our nine AIC cases, iuMRI demonstrated even at early fetal life the main anomalies described in the syndrome (callosal agenesisdysgenesis, cysts, gyration anomalies, and nodular heterotopias) and moreover highlighted the following findings: ocular coloboma, posterior fossa abnormalities, and basal ganglia dysmorphisms. Although minor callosal anomaly or normal CC have been described in some AIC cases, 18,19 all our fetal cases presented with partial or complete CC agenesis.…”

“…4 Intrauterine magnetic resonance imaging (iuMRI) has become a powerful diagnostic tool to detect fetal malformations, even at early gestational age (GA), 5,6 though the prenatal suspect of AIC has been reported at least in few anecdotal cases. [7][8][9][10] Considering the lack of consistent and extensive data about the prenatal imaging presentation of the syndrome, we aimed to describe a relatively large cohort of clinically confirmed AIC patients, in a relative brain iuMRI presentation of the syndrome, also comparing the prenatal findings with the postnatal ones. Moreover, a retrospective revision of brain iuMRIs of a large group of fetuses with CC dygenesisagenesis and cortical malformations (AIC mimickers) was performed and compared in consensus with AIC iuMRI cases in order to identify among them, the neuroradiological findings potentially predicting AIC and so differentiating the syndrome from similar fetal conditions.…”

Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms

“…Recently, it was suggested that microphthalmia should also be included [ 36 ]. Its incidence ranges from 1:110,000 to 1:93,000 live births [ 37 , 38 ]. It was previously thought to be caused by mutations in the TEAD1 (11p15.3; MIM 189967) gene.…”

“…Due to the lack of precise genetic or molecular possibilities for AIC identification, the diagnosis is mainly based on imaging and clinical symptoms, particularly disc anomalies (drusen, pigmented and morning glory discs) [ 38 ]. Findings of female fetal MRI examination may be considered predictive [ 37 ].…”

Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients

“…3,18,19 Only 2 previous studies, including a case report of 2 newborns and a review of 9 patients, have analyzed fetal and postnatal imaging to describe fetal findings in Aicardi syndrome. 7,20 Common prenatal imaging anomalies included dysgenesis of the corpus callosum (either complete or partial agenesis), heterotopia, ventriculomegaly, and polymicrogyria. ACC in conjunction with ventriculomegaly, large choroid plexus cysts, and heterotopia has been described in fetal imaging of other Aicardi patients.…”