PMC6815502_01
Eyelid xanthelasmas
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Physical examination showed eyelid xanthelasmas (Figure 1) and cerebellar ataxia.
A) brain and Hypothalamo-pituitary MRI showing white matter nodular hyperintensities; B) the loss of hyperintense signal on sagittal T1 weighted image
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It also showed white matter nodular hyper intensities on fluid attenuated inversion recovery (FLAIR) brain MRI (Figure 2).
Tc99m-methyl-diphosphonate scintigraphy showing symmetric uptake of the radiotracer in the tibial diaphysis and metaphysis regions
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Bone involvement was investigated by Tc99m methyl-diphosphonate (MDP) scintigraphy that showed symmetric uptake in both tibias, on the left radius and on the left femur (Figure 3).
A) bone infiltration by foamy histiocytes with fibrosis; B) hematoxylin eosin X 100; C) hematoxylin eosin X 400) and positive immunostaining of histiocytes for CD68 (x100)
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Immuno-histochemical staining was positive for CD68 and negative for CD1a (Figure 4).