Mevalonate kinase deficiency
Oct. 17, 2023
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Brain abnormalities detected by MRI in a 40-year-old man with cerebrotendinous xanthomatosis. Axial T1-weighted (top row), T2-weighted (middle row), and FLAIR (bottom row) images show symmetric hyperintensities in the posterior limbs of internal capsules, paraventricular white matter, cerebral peduncles, and anterior pons on T2-weighted and FLAIR images (arrows) with corresponding hypointensities on T1-weighted images, which are along corticospinal tracts. (Source: Ma C, Ren YD, Wang JC, et al. The clinical and imaging features of cerebrotendinous xanthomatosis: a case report and review of the literature. Medicine [Baltimore] 2021;100[9]:e24687. Creative Commons Attribution License 4.0 [CC BY] license.)