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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Fig. 2

Axial CT images of Patient B (a, b, c) and patient C (d, e, f) during different stages of the diseases, showing “rocks” calcifications in the cerebellar white matter (a, d), pons (a), periventricular white matter, thalami (b, e), and in the internal capsules, where they have a peculiar «boomerang appearance» (e, arrows) and centrum semiovale (c, f). Spine sagittal (g) and axial (h) CT of patient A showing extensive «track-like» calcifications along the whole spinal cord, well seen also on axial T2-fast field echo (FFE) MR images at the dorsal level and located in the region of the anterior horns (i). Axial T2-FFE MR image of patient C depicts the bilateral hyperintensities on T2WI in the dorsal lateral columns (j arrows)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172