PMC6292958_01
Brain magnetic resonance images of the proband. (A-C) Images taken at 4 years; (D-F) images taken at 8 years. (A) T2 axial, (B) T2 coronal, (C) T1 sagittal, (D) T2 axial, (E) T2 coronal, (F) T2 sagittal. A-D: bilateral inhomogeneous lesions of the Putamen and of the Caudatum. (B-E,F) Progressive cerebellar (vermian and hemispheric) atrophy. (C-F) Thin corpus callosum.
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F1
Brain MRIs showed bilateral lesions of putamen, globus pallidus, caudate, and dentate nuclei, compatible with the diagnosis of Leigh Syndrome (Figures 1A-C). Likewise, serial MRIs showed a progressive worsening of brain lesions, with extension of the previously described alterations and severe atrophy of corpus callosum and cerebellum (Figures 1D-F).