Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant

A 40-year-old woman and her 38-year-old brother developed since childhood optic neuropathy, absence epilepsy, cognitive disability, cerebellar syndrome, hypertrophic cardiomyopathy, and scoliokyphosis, due to a mitochondriopathy associating MTO1 mutation and an MT-FT variant, both genes involved in mitochondrial tRNA modification.¹ Brain MRIs were normal during childhood, but cortical, symmetric hyperintensities of precentral gyri on diffusion-weighted imaging (figure) arose apart from any new symptom, different from previously reported MTO1 mitochondriopathies, only noncortical,² from status epilepticus, generally unilateral and associated with a thalamic or corpus callosum splenium hypersignal, and from Creutzfeldt-Jakob disease, usually more posterior and associated with pulvinar and basal ganglia hyperintensities.

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Figure MRI Presentation of Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant in Adults

Brain MRIs of a sister (upper line, 39 years old) and her brother (lower line, 37 years old) with MTO1 mutation and MT-FT variant showing cortical, bilateral, symmetric, b1000 DWI hypersignal of the precentral gyri (A, E) without ADC restriction (B, F) nor FLAIR (C, G) or T1 abnormality (D, H).

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• © 2020 American Academy of Neurology