Fig. 1

Brain-MRI, CT scan, liver biopsy and abdominal-MRI findings. a, b 1.5 T brain-MRI T2* gradient echo (T2* GRE) and T2-weigthed images show the presence of bilateral hypointensities within dentate nucleus (arrows) with no involvement of the peridentate white matter. c CT scan shows the presence of a hyperdense peripheral rim within the dentate nuclei (double arrowhead) associated with symmetrical bilateral calcification in the peridentate white matter. d, e 1.5 T brain-MRI T2* GRE and T2-weigthed images show the presence of bilateral hypointensities within the globus pallidus (arrow) and left pulvinar (double arrowhead). The hypointensities were more prominent in the T2* GRE sequence due to the “blooming” that results from magnetic field inhomogeneity. f CT scan shows the presence of a slightly hyperdense peripheral rim within the external globus pallidus (arrow) and the medial part of the internal globus pallidus (GPi) with a relative sparing of the central portion of the GPi, and left pulvinar (double arrowhead). g-i Magnification of the rectangular areas highlighted in images D-F. j T2*-weighted MRI abdominal scans show marked liver hypointensity whereas bone marrow and spleen signal intensity appears normal showing the typical MRI pattern of hereditary hemochromatosis. k, l Liver histopathological evaluation by Perls’ stain shows the typical parenchymal iron overload pattern of hereditary hemochromatosis: hepatocellular siderosis distributed throughout the lobule with a decreasing periportal-to-centrilobular gradient. A moderate macrovesicular steatosis and moderate periportal fibrosis are also appreciable