title: 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 novel finding of diffusion restriction in brain lesions, in a proven case of ethylmalonic encephalopathy.
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: mayabhat05@yahoo.co.in.
authors.forename: Maya Dattatraya
authors.initials: MD
authors.lastname: Bhat
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: chandrajitt2@gmail.com.
authors.forename: Chandrajit
authors.initials: C
authors.lastname: Prasad
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: sarbesh1984@gmail.com.
authors.forename: Sarbesh
authors.initials: S
authors.lastname: Tiwari
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: drchandrasasi@yahoo.com.
authors.forename: Sadanandavalli Retnaswami
authors.initials: SR
authors.lastname: Chandra
authors.affiliation: Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: rita.nimhans@nic.in.
authors.forename: Rita
authors.initials: R
authors.lastname: Christopher
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D020739:Brain Diseases, Metabolic, Inborn / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000473:pathology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D005076:Exanthema / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007866:Leg / Q000473:pathology; D011693:Purpura / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000473:pathology
keywords: Basal ganglia; Ethylmalonic encephalopathy; Middle cerebellar peduncles; Restricted diffusion