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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Fig. 2

Photomicrograph of the specimen demonstrating cholesterol clefts (asterisk) and multinucleated giant cells (arrow) (Hematoxylin and eosin X200) (patient 1) (a), coronal T1-weighted MR image of the lower leg, shows bilateral Achilles tendon xanthomas (long arrows) and multiple other tendon xanthomas around the bilateral ankle (short arrows) (patient 3) (b), axial fat saturated T2-weighted MR image of the left ankle shows diffuse enlargement of the Achilles tendon (arrows) with characteristic speckled appearance (dotted arrows) (patient 4) (c)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172