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

摘要

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. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.