AJDRAJNR - American Journal of Neuroradiology

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Infantile Refsum Disease: Case Report

Vaishali Choksia, Ellen Hoeffnera, Ercan Karaarslanb, Cengiz Yalcinkaya and Sinan Cakirerc

a Department of Neuroradiology, University of Michigan Health System
b Department of Radiology, Istanbul University, Cerrahpasa Medical School
c Department of Radiology, Istanbul Sisli Etfal Hospital



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FIG 1. FLAIR image in the initial MR imaging series, showing patchy periventricular white matter hyperintensities.



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FIG 2. Follow-up MR image, revealing increase in the periventricular white matter hyperintensities.



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FIG 3. Follow-up FLAIR image, revealing increased signal intensity abnormality along the corticospinal tract in the internal capsules bilaterally along with hyperintense signal intensity in the periventricular white matter.



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FIG 4. T1-weighted image in the recent MR imaging series, revealing mild enhancement along the corticospinal tracts.