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Free Content Impaired Growth and Abnormal Microstructure of Supratentorial Gray and White Matter Regions in a Child with Joubert Syndrome

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Authors: Bosemani, T.; Baum, J.; Meoded, A.; Boltshauser, E.; Huisman, T.A.G.M.; Poretti, A.

Source: Neurographics, Volume 5, Number 5, 1 September 2015, pp. 209-216(8)

Publisher: American Society of Neuroradiology

DOI: https://doi.org/10.3174/ng.5150126

The interaction between the cerebellum and cerebrum forms the anatomic basis of the cerebellar role in neurocognitive functions. We performed whole-brain atlas-based analysis of volumetric and DTI data in a 16-month-old boy with Joubert syndrome and 5 age-matched controls. In our patient, we found a decrease in volume of multiple gray and white matter regions, and reduced fractional anisotropy in selected white matter regions. These findings result from trophic trans-synaptic effects and disconnection of the cerebellar-cerebral pathway secondary to a malformed cerebellum. In addition, we found an increase in fractional anisotropy in multiple cortical gray matter regions, which may reflect disrupted cortical neuronal radial glial cell scaffolding and neuronal laminar organization.

Keywords: FA = fractional anisotropy; JS = Joubert syndrome

Document Type: Research Article

Publication date: 01 September 2015

More about this publication?
  • Neurographics is the peer-reviewed, quarterly educational journal of the American Society of Neuroradiology. The journal includes review articles as well as high-yield case reports that have been solicited from society meetings, including the annual meeting of the ASNR as well as the American Society of Spine Radiology, the American Society of Pediatric Neuroradiology, the American Society of Functional Neuroradiology, and the American Society of Head and Neck Radiology meetings. Unsolicited educational review articles and case reports are also accepted for review at the discretion of the Editor-in-Chief. Submissions focusing on a pictorial approach to educational objectives are highly encouraged. The journal is open access and available online. CME credit is offered for reading review articles and completing activity evaluations through the ASNR Education Connection website: https://www.pathlms.com/asnr
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