Diffusion restriction in ethylmalonic encephalopathy – An imaging evidence of the pathophysiology of the disease

Abstract Ethylmalonic encephalopathy is an inborn error of metabolism characterized by encephalopathy, petechiae chronic diarrhea and acrocyanosis. Imaging findings include patchy signal changes in the basal ganglia, periaqueductal region, subcortical white matter and cerebellum. We describe the nov...

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Published inBrain & development (Tokyo. 1979) Vol. 38; no. 8; pp. 768 - 771
Main Authors Bhat, Maya Dattatraya, Prasad, Chandrajit, Tiwari, Sarbesh, Chandra, Sadanandavalli Retnaswami, Christopher, Rita
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.09.2016
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Summary:Abstract Ethylmalonic encephalopathy is an inborn error of metabolism characterized by encephalopathy, petechiae chronic diarrhea and acrocyanosis. Imaging findings include patchy signal changes in the basal ganglia, periaqueductal region, subcortical white matter and cerebellum. We describe the novel finding of diffusion restriction in brain lesions, in a proven case of ethylmalonic encephalopathy.
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ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2016.02.014