AJDRAJNR - American Journal of Neuroradiology

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T1 Hyperintensity in the Pulvinar: Key Imaging Feature for Diagnosis of Fabry Disease

Jun-ichi Takanashia, A. James Barkovicha, William P. Dillona, Elliott H. Sherrb, Kimberly A. Hartc and Seymour Packmanc

a the Neuroradiology Section, Department of Radiology, University of California, San Francisco, CA
b Department of Neurology, University of California, San Francisco, CA
c Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA



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FIG 1. Patient 10.

A, Axial T1-weighted spin-echo image at the level of basal ganglia shows hyperintense lesions in the bilateral peripheral globus pallidus, lateral pulvinar (arrowhead), and medial occipital cortex.

B, Axial T2-weighted image spin-echo showing hypointensity in the bilateral globus pallidus (small arrowhead) and putamen (arrowhead).

C, Noncontrast axial CT scan reveals calcification in the bilateral globus pallidus and medial occipital cortex; however, no abnormal attenuation exists in the pulvinar.

D and E, Coronal gradient echo images show hypointensity in the putamen and substantia nigra (D, arrowhead) but normal SI in pulvinar (E).



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FIG 2. Patient 8.

A, T1-weighted spin-echo image at the level of basal ganglia shows hyperintensity in right globus pallidus and bilateral lateral pulvinar (arrowhead).

B, T2-weighted spin-echo image shows a small hyperintense foci in right frontal white matter and hypointensity in the bilateral lateral putamen (arrowhead) and pulvinar (small arrowhead).