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. 2015 Mar 13;2(5):492–509. doi: 10.1002/acn3.189

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© 2015 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Spectrum of brain MRI and autopsy changes in ECHS1 patients. (A) MRI (T2) at age 8 days in individual F1, II:2 showing widespread diffuse white matter changes and brain atrophy. (B) MRI (T2) at age 8 months in individual F6, II:1 (#376) showing brain atrophy and bilateral symmetric signal hyperintensity in caput nucleus caudatus and putamen. (C) MRI (FLAIR) at age 2.2 years in individual F9, II:2 (#57277) showing increased signal in putamen, globus pallidus and caput nucleus caudatus. (D) MRI (FLAIR) at age 15 years in individual F10, II:1 (#52236) showing bilateral symmetric signal hyperintensity in caput nucleus caudatus and putamen. (E) Autopsy at age 11 months in individual F2, II:1 (#42031) showing necrotizing encephalopathy of the caudate and lenticular nuclei. MRI, magnetic resonance imaging; ECHS1, short-chain enoyl-CoA hydratase.