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Update on neuroimaging phenotypes of mid-hindbrain malformations

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Abstract

Purpose

Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification.

Methods

We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics.

Results

We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain.

Conclusion

Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies.

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Acknowledgments

The authors are grateful to Mazen Ahmar (MD, Radiology, Alzahra Hospital, Sharjah, (UAE) for providing us with Fig. 18.

Ethical standards and patient consent

We declare that this manuscript does not contain clinical studies or patient data.

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We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, University Hospital of Lille (CHRU), 59037, Lille-Cedex, France

    Patrice Jissendi-Tchofo, Béatrice Nguema-Edzang, Cissé Toure & Gustavo Soto Ares

  2. Radiology Department, Pediatric Neuroradiology Section, CHU Saint-Pierre, Brussels, Belgium

    Patrice Jissendi-Tchofo

  3. Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy

    Mariasavina Severino

  4. Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA, USA

    Anthony James Barkovich

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  1. Patrice Jissendi-Tchofo
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Correspondence to Patrice Jissendi-Tchofo.

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Jissendi-Tchofo, P., Severino, M., Nguema-Edzang, B. et al. Update on neuroimaging phenotypes of mid-hindbrain malformations. Neuroradiology 57, 113–138 (2015). https://doi.org/10.1007/s00234-014-1431-2

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