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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Fig. 2

Brain MRI characteristic of PEPCK-C deficiency in the proband (Patient 1.2) of Family 1. (A-C) Axial diffusion-weighted images; (D-F) ADC map images; and (G-I) axial FLAIR images: There are bilateral areas of increased cortical signal intensity in diffusion-weighted images in the cerebral hemispheres (short arrows, A-C). Some of these areas in the superior frontal and parietal lobes show diffusion restriction (arrows in D) and FLAIR hyperintensity (for example, arrows in G). Diffusion restriction was also present in the genu of the corpus callosum (not shown) and in the hippocampi (arrowheads, C). There is diffusion restriction in the deep and subcortical white matter in the frontal and parietal lobes bilaterally with focal faint FLAIR hyperintensity in the right parietal lobe (long arrows in B, E, and H). Focal peri-trigonal white matter FLAIR hyperintensities were present without diffusion restriction (arrowhead, I)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172