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AJNR - American Journal of Neuroradiology

Published ahead of print on September 26, 2007
doi: 10.3174/ajnr.A0703

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American Journal of Neuroradiology 28:1929-1933, November-December 2007
© 2007 American Society of Neuroradiology

PEDIATRICS

Diffusion Tensor Imaging in Joubert Syndrome

A. Poretti^a, E. Boltshauser^a, T. Loenneker^b, E.M. Valente^c, F. Brancati^c, K. Il'Yasov^b,d and T.A.G.M. Huisman^b,e

^a Departments of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland
^b Diagnostic Imaging and MR Center, University Children's Hospital, Zurich, Switzerland
^c Department of Neurogenetics, CSS-Mendel Institute, Rome, Italy
^d Department of Diagnostic Radiology, Section of Medical Physics, University of Freiburg, Germany
^e Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Sciences, The Johns Hopkins University School of Medicine, Baltimore, Md

Please address correspondence to Thierry A.G.M. Huisman, MD, Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins Hospital, 300 N. Wolfe St, Nelson B-173, Baltimore, MD 21287-0842; e-mail: thuisma1{at}jhmi.edu

BACKGROUND AND PURPOSE: Neuropathologic findings and preliminary imaging studies demonstrated the absence of pyramidal tract and superior cerebellar peduncular decussation in individual patients with Joubert syndrome (JS). We hypothesized that functional-structural neuroimaging findings do not differ between the genetic forms of JS.

MATERIALS AND METHODS: MR imaging was performed with a 3T MR imaging-unit. Multiplanar T2- and T1-weighted imaging was followed by diffusion tensor imaging (DTI). Isotropic diffusion-weighted images, apparent diffusion coefficient maps, and color-coded fractional anisotropy maps, including tractography, were subsequently calculated.

RESULTS: In all 6 patients studied, DTI showed that the fibers of the superior cerebellar peduncles did not decussate in the mesencephalon and the corticospinal tract failed to cross in the caudal medulla. The patients represented various genetic forms of JS.

CONCLUSION: In JS, the fibers of the pyramidal tract and the superior cerebellar peduncles do not cross, irrespective of the underlying mutation.