Mitochondrial encephalopathy due to POLG1-mutation

Case contributed by Robert G


Patient presenting with seizures and left visual field defect

Patient Data

Age: 16 years
Gender: Male

In addition to visual field defects, the patient now presents with left-sided hemisyndrome.

Right-sided parietooccipital cortical thickening and increased FLAIR signal predominantly in the pericalcarine area of the primary visual cortex. Diffusion restriction in the right occipital cortex, indicating cytotoxic edema.

Second study (10 days later)


Right-sided occipitotemporal cortical thickening and increased T2 signal. Swelling and increased T2 signal in the right pulvinar thalami.

Progressive cortical thickening and increased FLAIR signal in the occipitotemporal cortex as well as swelling and increased FLAIR signal in the thalamus on the right. Regressive signal alterations in the pericalcarine primary visual cortex.

Corresponding to the findings in T2 and FLAIR images, DWI shows restricted diffusion in the occipitotemporal cortex and pulvinar thalami on the right

Case Discussion

This is a case of mitochondrial encephalopathy with genetically proven mitochondrial polymerase gamma 1 (POLG1) mutation, with typical findings of occipital and thalamic T2/FLAIR hyperintensities and diffusion restriction.

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