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Brain MRI in Neurodegeneration with Brain Iron Accumulation with and without PANK2 Mutations

S.J. Hayflicka,b, M. Hartmanc, J. Coryella, J. Gitschiere and H. Rowleyc,d

a Departments of Molecular and Medical Genetics, School of Medicine, Oregon Health & Science University, Portland, Ore
b Pediatrics and Neurology, School of Medicine, Oregon Health & Science University, Portland, Ore
c Departments of Radiology, University of Wisconsin, Madison, Wis
d Neurology, University of Wisconsin, Madison, Wis
e Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San Francisco, Calif


Figure 1
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  		Fig 1. Eye-of-the-tiger sign (arrows). This 10-year-old boy with the PANK2 mutation shows MR features characteristic of PKAN. The T1-weighted images appear normal, but high signal intensity can be seen in the globus pallidus on proton attenuation (PD), T2-weighted fluid-attenuated inversion recovery (FLAIR), and T2-weighted images in both the axial and coronal planes. With increasingly heavier T2 weighting (PD<FLAIR<T2), there is increasingly conspicuous T2 hypointensity at the periphery because of the magnetic susceptibility effects of excess iron.


Figure 2
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  		Fig 2. Subtle early changes in NBIA. This 3-year-old girl shows slight T2 hyperintensity (arrows) only on T2 and FLAIR sequences. There are no signs of excess iron deposition. The clinical course was progressive, and a PANK2 mutation was present.





Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X