MRI features in 17 patients with l2 hydroxyglutaric aciduria

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MRI features in 17 patients with l2 hydroxyglutaric aciduria Héla Fourati, Emna Ellouze, Mourad Ahmadi, Dhouha Chaari, Fatma Kamoun, Ines Hsairi, Chahnez Triki, Zeineb Mnif European Journal of Radiology Open Volume 3, Pages 245-250 (January 2016) DOI: 10.1016/j.ejro.2016.09.001 Copyright © 2016 Terms and Conditions

Fig. 1 Axial T2 FSE weighted images showing signal abnormalities: “swelling” affecting subcortical white matter (WM) (a, b) in almost all cerebral areas, with a slight parieto-temporal predominance. External capsula and both of the thalami (a) are also affected. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 2 Axial T1 SE weighted image (a), and coronal T2 FSE weighted images (b and c) showing extensive WM abnormalities, affecting outer and inner capsula with mesencephlic abnormalities. An outer rim sign can also be noted for the putamen. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 3 Coronal T2 FSE weighted images showing WM abnormalities involving subcortical, central and periventricular areas with swollen WM appearance. An outer rim sign, outer and inner capsula involvements are also present. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 4 Coronal T2 FSE weighted images (a and b) and sagittal T2 FLAIR weighted images (c and d), showing WM abnormalities with WM swelling in frontal lobes (a and b). some of signal abnormalities present a hyposignal in T2 FLAIR sequence (figures c and d: WM rarefaction). European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 5 Axial T2 FSE weighted images showing the involvement of the dentate nucleus (a), the globus pallidus (b). An outer rim sign is observed (c). European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 6 Monovoxel spectroscopy on frontal WM abnormalities shows decrease of NAA and Choline peaks. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Fig. 7 The comparison of the two coronal T2 slices in patient a and b show that in « a » there is obvious white matter signal abormality (in fronto-temporal), basal ganglia involvement, these features are more pronouced in « b ». We also note the ventricules’ enlargement in b (not present in a) du to white matter atrophy. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions

Graph 1 Predominantly involved lobe in Wight matter MR abnormalities. European Journal of Radiology Open 2016 3, 245-250DOI: (10.1016/j.ejro.2016.09.001) Copyright © 2016 Terms and Conditions