Fig. 1From: KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureMRI in patient B. TOP, Axial T2WI. performed at 1 year and 9 months revealed diffuse hyperintensity in deep cerebellar white matter, middle cerebellar peduncles, brainstem and bi-hemispheric white matter (a, b, c, d). The signal is inhomogeneous for the presence of multiple focal marked hypointensities due to calcifications (e, arrows). BOTTOM, Axial T2WI. performed at 3 years and 10 months showed a dramatic extension of the diffuse signal abnormalities in both hemispheres with full involvement of the posterior arm of the internal capsules, external capsules, U fibers and thalami, with relative sparing of the putamina (h-j). The signal abnormalities extension was also evident in cerebellar white matter, cerebellar peduncles and brainstem (f, g). Bilateral symmetric hyperintensities in the bulbar pyramids and bulbar lateral regions (arrowheads in f), in the superior cerebellar peduncles and in the arciform fibers of their decussation (arrowheads in H) were more evident. The transverse fibers of the pons were prominent and hyperintense (insert in g). Both V cranial nerves appeared swollen and hyperintense (stars in g), as well as the optic chiasm. Calcarine cortex showed a gliotic hyperintensity (black arrows in c). A huge diffuse cerebral atrophy with ventricles and sulci dilatation associated with pronounced cortical thickness was also observedBack to article page