PMC10029355_01
Xanthomas findings of this patient with cerebrotendinous xanthomatosis. Xanthomas on bilateral (a) dorsum of the hands and (b) Achilles tendons. Histological findings of the dorsum of the hand (c) and Achilles tendon (d) xanthomas show foamy macrophages (arrowheads) and lipid crystal clefts (arrows).
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Achilles tendons (Figures 1a, b). A skin biopsy revealed diffuse infiltration of foamy macrophages in the dermis, and a tendon biopsy revealed numerous lipid crystal clefts and a small number of foamy macrophages (Figures 1c, d).
Brain imaging findings of this patient with cerebrotendinous xanthomatosis. (a) Brain spectroscopy shows hypoperfusion in bilateral frontal and right temporal lobes (arrows). (b) Initial fluid-attenuated inversion recovery image shows slight periventricular white matter changes. (c) Follow-up fluid-attenuated inversion recovery image performed 4 years later shows the progression of periventricular white matter changes and newly developed symmetrical hyperintense lesions in the dentate nucleus of the cerebellum (arrowheads).
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Brain spectroscopy performed at 56 years of age showed hypoperfusion in the bilateral frontal and right temporal lobes (Figure 2a). A brain magnetic resonance imaging (MRI) performed during the same period showed slight periventricular white matter changes on T2 FLAIR images, but no other specific abnormalities were observed (Figure 2b). However, follow-up T2 FLAIR images, performed at the age of 60 years, demonstrated progression of periventricular white matter changes and newly developed symmetrical hyperintense lesions in the dentate nucleus of the cerebellum (Figure 2c).