ORIGINAL RESEARCH PEDIATRICS Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children C.A.P.F. Alves, A. Goldstein, S.R. Teixeira, J.S. Martin-Saavedra, I.P. de Barcelos, G. Fadda, L. Caschera, M. Kidd, F.G. Gonc¸alves, E.M. McCormick, M.J. Falk, Z. Zolkipli-Cunningham, A. Vossough, and G. Zuccoli ABSTRACT BACKGROUND AND PURPOSE: Little is known about imaging features of spinal cord lesions in mitochondrial disorders. The aim of this research was to assess the frequency, imaging features, and pathogenic variants causing primary mitochondrial disease in children with spinal cord lesions. MATERIALS AND METHODS: This retrospective analysis included patients seen at Children’s Hospital of Philadelphia between 2000 and 2019 who had a conﬁrmed diagnosis of a primary (genetic-based) mitochondrial disease and available MR imaging of the spine. The MR imaging included at least both sagittal and axial fast spin-echo T2-weighted images. Spine images were independently reviewed by 2 neu- roradiologists. Location and imaging features of spinal cord lesions were correlated and tested using the Fisher exact test. RESULTS: Of 119 children with primary mitochondrial disease in whom MR imaging was available, only 33 of 119 (28%) had available spine imaging for reanalysis. Nineteen of these 33 individuals
American Journal of Neuroradiology – American Journal of Neuroradiology
Published: Feb 1, 2021
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