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Ethylmalonic encephalopathy: longitudinal brain MRI findings before and after liver transplantation

Brain MRI T2‐weighted sections before living transplantation (a), and at 1 (b), 2 (c), 3 (d), and 5 (e) years of follow‐up. Before liver transplantation, frontotemporal atrophy and symmetric hyperintense lesions involving the putamina and the caudate nuclei were detectable. (Source: Olivieri G, Martinelli D, Longo D, et al. Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient. Orphanet J Rare Dis 2021;16:229. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • fatty acid oxidation disorder
  • medium-chain acyl-CoA dehydrogenase deficiency
  • metabolic acidosis
  • orthostatic acrocyanosis