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

Maya Dattatraya Bhat; Chandrajit Prasad; Sarbesh Tiwari; Sadanandavalli Retnaswami Chandra; Rita Christopher

doi:10.1016/j.braindev.2016.02.014

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

Brain Dev. 2016 Sep;38(8):768-71. doi: 10.1016/j.braindev.2016.02.014. Epub 2016 Mar 15.

Authors

Maya Dattatraya Bhat¹, Chandrajit Prasad², Sarbesh Tiwari³, Sadanandavalli Retnaswami Chandra⁴, Rita Christopher⁵

Affiliations

¹ Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: [email protected].
² Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: [email protected].
³ Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: [email protected].
⁴ Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: [email protected].
⁵ Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bangalore, India. Electronic address: [email protected].

PMID: 26992475
DOI: 10.1016/j.braindev.2016.02.014

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.

Keywords: Basal ganglia; Ethylmalonic encephalopathy; Middle cerebellar peduncles; Restricted diffusion.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging*
Brain Diseases, Metabolic, Inborn / diagnostic imaging*
Brain Diseases, Metabolic, Inborn / drug therapy
Brain Diseases, Metabolic, Inborn / pathology
Diagnosis, Differential
Diffusion Magnetic Resonance Imaging*
Exanthema / pathology
Female
Follow-Up Studies
Humans
Infant
Leg / pathology
Purpura / diagnostic imaging*
Purpura / drug therapy
Purpura / pathology

Supplementary concepts

Ethylmalonic encephalopathy