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  • Title: Unique neuroradiological findings in propionic acidemia.
    Author: Pfeifer CM, Van Tassel DC, Miller JH.
    Journal: Radiol Case Rep; 2018 Dec; 13(6):1207-1211. PubMed ID: 30233761.
    Abstract:
    Propionic acidemia is a rare metabolic disorder that affects the catabolism of branched-chain amino acids and oddchain fatty acids. Propionic acidemia is one of the least common organic acidemias. Presented here are manifestations not previously characterized. The first case is an infant with diffuse subcortical diffusion restriction and vermian atrophy. The second case is an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction. These unique brain MRI findings of propionic acidemia may aid the neuroradiologist in guiding genetic testing for occult metabolic disease.
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