Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Abstract

Objective This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis.

Methods The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis–dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. For this purpose, Chi-square statistic and binary logistic regression analysis were performed.

Results In all AIC cases, iuMRI was able to detect CC agenesis–dysgenesis and cortical development anomalies. Postnatal MRI revealed some additional findings mainly including further cystic lesions and in two cases small coloboma. A statistically significant difference between AIC and AIC mimicker were found regarding sex, nodular heterotopias, posterior fossa abnormalities, coloboma, and cortical gyration abnormalities. The most predictive variables in the logistic regression model were cortical gyration abnormalities, coloboma, and sex.

Conclusion The iuMRI findings may suggest prenatal diagnosis of AIC syndrome with significant impact on parental counseling. Among possible differential diagnoses, tubulinopathies emerged.

Keywords

Aicardi syndrome - prenatal suspicious - differential diagnosis

Statement on Liability

The authors confirm the correctness of data and statement made in the manuscript.

Data availability Statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Copyright Statement

The authors confirm that this submitted manuscript represents original research, not previously published and not considered for publication elsewhere.

Ethical Statement

Study complied with Institutional regulations for anonymized retrospective MRI studies. A dedicated fetal MRI written informed consent was obtained from the selected cases, including approval for clinical and imaging data storage and analysis for research aims.

Authors' Contribution

M.S., D.C., I.G., F.M., S.M., V.P., P.A., R.A., and P.C. made a substantial contribution to conceptions and design, acquisition of the data, analysis and interpretation of the data; they drafted the article and approved the final version to be published.

A.A., A.P., B.B.N., C.V., C.M., D.B.B., D.F., D.G.V., F.E., F.R.L.M., F.C., G.L., O.S., P.L., R.E., R.A., S.M., and S.C. were involved in the care of the patients described in this paper, provided clinical and neuroradiological data of the cases, reviewed the manuscript, and approved the final version to be published.

^* These authors contributed equally to this work.

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