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A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study

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Abstract

Aim of this study is to show the potential of probabilistic tractographic techniques, based on the Constrained Spherical Deconvolution (CSD) algorithms, in recognizing white matter fiber bundle anomalies in patients with complex cerebral malformations, such as cerebellar agenesis. The morphological and tractographic study of a 17-year-old male patient affected by cerebellar agenesis was performed by using a 3Tesla MRI scanner. Genetic and neuropsychological tests were carried out. An MRI morphological study showed the absence of both cerebellar hemispheres and the flattening of the anterior side of the pons. Moreover, it showed a severe vermian hypoplasia with a minimal vermian residual. The study recognized two thin cerebellar remnants, medially in contact with the small vermian residual, at the pontine level. The third ventricle, morphologically normal, communicated with a permagna cerebello-medullary cistern. Probabilistic CSD tractography identified some abnormal and aberrant infratentorial tracts, symmetrical on both sides. In particular, the transverse pontine fibers were absent and the following tracts with aberrant trajectories have been identified: “cerebello-thalamic” tracts; “fronto-cerebellar” tracts; and ipsilateral and contralateral “spino-cerebellar” tracts. Abnormal tracts connecting the two thin cerebellar remnants have also been detected. There were no visible alterations in the main supratentorial tracts in either side. Neuropsychiatric evaluation showed moderate cognitive-motor impairment with discrete adaptive compensation. Probabilistic CSD tractography is a promising technique that overcome reconstruction biases of other diffusion tensor-based approaches and allowed us to recognize, in a patient with cerebellar agenesis, abnormal tracts and aberrant trajectories of normally existing tracts.

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Acknowledgments

This work was partly supported by grants from the Italian Ministry of Health (Ricerca Corrente 2014) and the European Research Council (ERC Starting Grant 260888 to EMV).

Conflicts of interest

Enricomaria Mormina, Marilena Briguglio, Rosa Morabito, Alessandro Arrigo, Silvia Marino, Gabriella Di Rosa, Alessia Micalizzi, Enza Maria Valente, Vincenzo Salpietro, Sergio Lucio Vinci, Marcello Longo, and Francesca Granata declare that they have no conflicts of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, and the applicable revisions at the time of the investigation. Informed consent was obtained from the patient for being included in the study.

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Authors and Affiliations

  1. Neuroradiology Unit - Department of Biomedical Sciences and Morpho-Functional Imaging, University of Messina, via Consolare Valeria, 1 A.O.U. Policlinico “G. Martino”, 98125, Messina, Italy

    Enricomaria Mormina, Rosa Morabito, Alessandro Arrigo, Sergio Lucio Vinci, Marcello Longo & Francesca Granata

  2. Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, University of Messina, Messina, Italy

    Marilena Briguglio, Gabriella Di Rosa & Vincenzo Salpietro

  3. IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy

    Silvia Marino

  4. IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Laboratory, San Giovanni Rotondo, Italy

    Alessia Micalizzi & Enza Maria Valente

  5. Department of Biological and Environmental Science, University of Messina, Messina, Italy

    Alessia Micalizzi

  6. Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy

    Enza Maria Valente

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  1. Enricomaria Mormina
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  2. Marilena Briguglio
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  3. Rosa Morabito
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  4. Alessandro Arrigo
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  5. Silvia Marino
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  6. Gabriella Di Rosa
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  7. Alessia Micalizzi
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  8. Enza Maria Valente
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  9. Vincenzo Salpietro
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  10. Sergio Lucio Vinci
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  11. Marcello Longo
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  12. Francesca Granata
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Corresponding author

Correspondence to Alessandro Arrigo.

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Mormina, E., Briguglio, M., Morabito, R. et al. A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study. Brain Imaging and Behavior 10, 158–167 (2016). https://doi.org/10.1007/s11682-015-9377-5

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  • DOI: https://doi.org/10.1007/s11682-015-9377-5

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