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Ex vivo High-Resolution Magnetic Resonance Imaging of the Brain in Joubert's Syndrome

McKnight Brain Institute Department of Nuclear and Radiological Sciences University of Florida Gainesville, Florida, padge{at}ufl.edu

Bernard L. Maria, MD, MBA

Department of Child Health University of Missouri-Columbia School of Medicine Columbia, Missouri

Anthony T. Yachnis, MD

McKnight Brain Institute Department of Pathology University of Florida Gainesville, Florida

Stephen J. Blackband, PhD

McKnight Brain Institute Department of Neuroscience University of Florida Gainesville, Florida National High Magnetic Field Laboratory Tallahassee, Florida

This study employs ex vivo high-resolution magnetic resonance imaging (MRI) to examine anatomic structures in an intact brain of a child with Joubert's syndrome. Several of the specific hindbrain malformations associated with Joubert's syndrome are well resolved with ex vivo MRI, including the "molar tooth sign," which arises from enlarged and maloriented superior cerebellar peduncles, hypoplastic vermis, and deepening of the interpeduncular fossa. Superior resolution was achieved compared with that of in vivo MRI and included visualization of the inferior olives. One high-resolution study also showed that the decreased width of the brainstem isthmus is probably caused by failure of superior cerebellar peduncles to cross the midline at that level. The results of this study suggest that high-resolution MRI may be useful in screening the brainstem for malformations that can be studied histologicaly in a much more targeted fashion. (J Child Neurol 2002;17:910—912).

Journal of Child Neurology, Vol. 17, No. 12, 910-912 (2002)
DOI: 10.1177/08830738020170123003


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