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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Fig. 1

Neuroradiological findings. a 1.5T Brain MRI at 4 months (T2-weighted axial section): diffuse and bilateral hyperintense alterations in nucleocapsular and peritrigonal regions, mild calcifications and thin corpus callosum; b 1.5T Brain MRI at 30 months (T2-weighted axial section): evolution of progressive damage involving diffusively the white matter leading to cortical, subcortical and cerebellar atrophy with more prominent amount of bilateral calcifications; c Computed Tomography (CT) scan at 30 months: generalized and massive cortical and subcortical atrophy with hydrocephalus; d MR-Spectroscopy (MRS) at 4 months, volume of interest in left parietal white matter region: reduced NAA/Cr ratio and Cho/Cr ratio and occurrence of a high lactate peak (at 1.3 ppm)

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