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Neuropediatrics 2020; 51(04): 276-285
DOI: 10.1055/s-0040-1710528
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Silvia Masnada   *
1   Department of Brain and Behavioural Neurosciences, University of Pavia, Pavia, Italy
,
Doneda Chiara‡   *
2   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
,
Izzo Giana‡   *
2   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
,
Formica Manuela
3   Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy
,
Scarabello Marco
4   Postgraduate School in Radiodiagnostic, Università degli Studi di Milano, Milan, Italy
,
Accogli Andrea
5   DINOGMI Università di Genova, IRCCS Istituto Giannina Gaslini, Genoa, Italy
,
Accorsi Patrizia
6   Child Neuropsychiatric Unit, Civilian Hospital, Brescia, Italy
,
Bahi-Buisson Nadia
7   Institut Imagine, Université Paris Descartes—Sorbonne Paris Cités, France
8   Embryology and Genetics of Congenital Malformations, INSERM UMR-1163, France
9   Pediatric Neurology, Necker Enfants Malades Hospital, Member of the ERN EpiCARE, Assistance Publique-Hôpitaux de Paris, Paris, France
,
Capra Valeria
5   DINOGMI Università di Genova, IRCCS Istituto Giannina Gaslini, Genoa, Italy
,
Cavallin Mara
10   Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, Florence Italy
,
Dalla Bernardina Bernardo
11   UOC Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
,
Darra Francesca
11   UOC Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy
,
De Giorgis Valentina
12   IRCCS Mondino Foundation, Pavia, Italy
,
Fazzi Elisa
6   Child Neuropsychiatric Unit, Civilian Hospital, Brescia, Italy
,
Fontanillas R. L. Miguel
13   Child Neuropsychiatric, ASST, Crema, Italy
,
Fusco Carlo
14   Child Neurology Unit, Pediatric Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
,
Giordano Lucio
6   Child Neuropsychiatric Unit, Civilian Hospital, Brescia, Italy
,
Orcesi Simona
1   Department of Brain and Behavioural Neurosciences, University of Pavia, Pavia, Italy
12   IRCCS Mondino Foundation, Pavia, Italy
,
Pinelli Lorenzo
15   Department of Neuroradiology, Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia
,
Rebessi Erika
16   Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, “Fatebenefratelli e Oftalmico” Hospital, Milano, Italy
,
Romeo Antonino
16   Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, “Fatebenefratelli e Oftalmico” Hospital, Milano, Italy
,
Severino Mariasavina
17   Pediatric Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy
,
Spagnoli Carlotta
14   Child Neurology Unit, Pediatric Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
,
Veggiotti Pierangelo
18   Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Milan, Italy
19   Department of Child Neurology, V. Buzzi Children's Hospital, University of Milan, Milan, Italy
,
Pichiecchio Anna
1   Department of Brain and Behavioural Neurosciences, University of Pavia, Pavia, Italy
20   IRCCS Mondino Foundation Department of Neuroradiology, Pavia, Italy
,
Righini Andrea
2   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
,
Parazzini Cecilia
2   Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy
› Author Affiliations Funding Statement No funding was secured for this study.
Further Information

Publication History

09 January 2020

02 April 2020

Publication Date:
03 July 2020 (online)

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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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