Involvement of the spinal cord in primary mitochondrial disorders : a neuroimaging mimicker of inflammation and ischemia in children

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dc.contributor.authorAlves, C. A. P. F.en_ZA
dc.contributor.authorGoldstein, A.en_ZA
dc.contributor.authorTeixeira, S. R.en_ZA
dc.contributor.authorMartin-Saavedra, J. S.en_ZA
dc.contributor.authorDe Barcelos, I. P.en_ZA
dc.contributor.authorFadda, G.en_ZA
dc.contributor.authorCaschera, L.en_ZA
dc.contributor.authorKidd, M.en_ZA
dc.contributor.authorGonçalves, F. G.en_ZA
dc.contributor.authorMcCormick, E. M.en_ZA
dc.contributor.authorFalk, M. J.en_ZA
dc.contributor.authorZolkipli-Cunningham, Z.en_ZA
dc.contributor.authorVossough, A.en_ZA
dc.contributor.authorZuccoli, G.en_ZA
dc.date.accessioned2022-04-28T13:06:42Z
dc.date.available2022-04-28T13:06:42Z
dc.date.issued2021-02
dc.descriptionCITATION: Alves, C. A. P. F. et al. 2021 . Involvement of the spinal cord in primary mitochondrial disorders : a neuroimaging mimicker of inflammation and ischemia in children. American Journal of Neuroradiology, 42(2):389-396, doi: 10.3174/ajnr.A6910.en_ZA
dc.descriptionThe original publication is available at: https://pubmed.ncbi.nlm.nih.gov
dc.description.abstractBackground 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 neuroradiologists. 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 (58%) had evidence of spinal cord lesions. Two main patterns of spinal cord lesions were identified: group A (12/19; 63%) had white ± gray matter involvement, and group B (7/19; 37%) had isolated gray matter involvement. Group A spinal cord lesions were similar to those seen in patients with neuromyelitis optica spectrum disorder, multiple sclerosis, anti-myelin oligodendrocyte glycoprotein-IgG antibody disease, and leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Group B patients had spinal cord findings similar to those that occur with ischemia and viral infections. Significant associations were seen between the pattern of lesions (group A versus group B) and the location of lesions in cervical versus thoracolumbar segments, respectively (P < .01). Conclusions: Spinal cord lesions are frequently observed in children with primary mitochondrial disease and may mimic more common causes such as demyelination and ischemia.en_ZA
dc.description.versionPublisher's version
dc.format.extent8 pages : illustrations
dc.identifier.citationAlves, C. A. P. F. et al. 2021 . Involvement of the spinal cord in primary mitochondrial disorders : a neuroimaging mimicker of inflammation and ischemia in children. American Journal of Neuroradiology, 42(2):389-396, doi: 10.3174/ajnr.A6910en_ZA
dc.identifier.otherdoi: 10.3174/ajnr.A6910
dc.identifier.urihttp://hdl.handle.net/10019.1/124478
dc.language.isoen_ZAen_ZA
dc.publisherAmerican Journal of Neuroradiology
dc.rights.holderAuthors retain copyright
dc.subjectMitochondrial pathologyen_ZA
dc.subjectMitochondrial DNA -- Abnormalitiesen_ZA
dc.subjectNervous system -- Diseasesen_ZA
dc.subjectSpinal cord lesionsen_ZA
dc.titleInvolvement of the spinal cord in primary mitochondrial disorders : a neuroimaging mimicker of inflammation and ischemia in childrenen_ZA
dc.typeArticleen_ZA
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