Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Figure 2

Brain MRI of the patients V.1 ((a) and (b)) and V.2 ((c) and (d)). (a) Coronal T2 weighted image showing enlargement of the cortical furrows and the ventricular cavities related to a diffuse cortical and subcortical atrophy. (b) Axial T2 weighted sequence showing the huge cortical and subcortical atrophy. (c) T2 weighted sequence shows dilatation in all ventricular cavities as a result to a diffuse and severe atrophy in the brainstem and the cerebellar and the sustentorial area. (d) T2 weighted sequence showing a major ventricular dilatation due to the severe cortical atrophy.

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