Bilateral High Signal Intensity on DWI of the Precentral Cortices in Mitochondriopathy Due to MTO1 Mutation and MT-TF Variant
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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.
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).
Study Funding
Centre Hospitalier Universitaire de Toulouse.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/Nhttps://n.neurology.org/lookup/doi/10.1212/WNL.0000000000011374 for full disclosures.
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Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
↵* These authors contributed equally to this work.
- © 2020 American Academy of Neurology
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