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

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...

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Published in:Brain Imaging & Behavior Vol. 10; no. 1; pp. 158 - 168
Main Authors: Mormina, Enricomaria, Briguglio, Marilena, Morabito, Rosa, Arrigo, Alessandro, Marino, Silvia, Di Rosa, Gabriella, Micalizzi, Alessia, Valente, Enza, Salpietro, Vincenzo, Vinci, Sergio, Longo, Marcello, Granata, Francesca, Valente, Enza Maria, Vinci, Sergio Lucio
Format: case study research Journal Article
Published: Springer Nature Mar2016
Online Access:View this record in EBSCOhost
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      dt: Mar2016
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      pub: Springer Nature
      place: New York, New York
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        atl: A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study.
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          Mormina, Enricomaria
          Briguglio, Marilena
          Morabito, Rosa
          Arrigo, Alessandro
          Marino, Silvia
          Di Rosa, Gabriella
          Micalizzi, Alessia
          Valente, Enza
          Salpietro, Vincenzo
          Vinci, Sergio
          Longo, Marcello
          Granata, Francesca
          Valente, Enza Maria
          Vinci, Sergio Lucio
        affil: 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
      sug:
        subj:
          Algorithms
          Image Processing, Computer Assisted Methods
          Cerebellum
          Cerebellum Abnormalities
          Magnetic Resonance Imaging Methods
          Neural Pathways
          Brain Stem Abnormalities
          Brain
          Neural Pathways Abnormalities
          Male
          Adolescence
          Brain Abnormalities
          Brain Stem
          Human
          Validation Studies
          Comparative Studies
          Evaluation Research
          Multicenter Studies
          Adolescent: 13-18 years
          Male
      ab: 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.
      pubtype: Academic Journal
      doctype:
        case study
        research
        Journal Article
      ougenre: Article
    language: English
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