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Imaging Patterns Characterizing Mitochondrial Leukodystrophies

Imaging Patterns Characterizing Mitochondrial Leukodystrophies Published April 15, 2021 as 10.3174/ajnr.A7097 ORIGINAL RESEARCH PEDIATRICS Imaging Patterns Characterizing Mitochondrial Leukodystrophies S.D. Roosendaal, T. van de Brug, C.A.P.F. Alves, S. Blaser, A. Vanderver, N.I. Wolf, and M.S. van der Knaap ABSTRACT BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heter- ogeneity. Mitochondrial defects cause 5%–10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects. MATERIALS AND METHODS: One hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were identified in the data base of the Amsterdam Leukodystrophy Center. Numerous anatomic structures were systematically assessed on brain MR imaging. Additionally, lesion characteristics were scored. Statistical group analysis was performed for 57 MR imaging features by hierarchic testing on clustered genetic subgroups. RESULTS: MR imaging features indicative of mitochondrial disease that were frequently found included white matter rarefaction (n ¼ 50 patients), well-delineated cysts (n ¼ 20 patients), T2 hyperintensity of the middle blade of the corpus callosum (n ¼ 85 patients), and symmetric abnormalities in deep gray matter structures (n ¼ 42 patients). Several disorders or clusters of disorders http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Neuroradiology American Journal of Neuroradiology

Imaging Patterns Characterizing Mitochondrial Leukodystrophies

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Publisher
American Journal of Neuroradiology
Copyright
© 2021 by American Journal of Neuroradiology
ISSN
0195-6108
eISSN
1936-959X
DOI
10.3174/ajnr.A7097
Publisher site
See Article on Publisher Site

Abstract

Published April 15, 2021 as 10.3174/ajnr.A7097 ORIGINAL RESEARCH PEDIATRICS Imaging Patterns Characterizing Mitochondrial Leukodystrophies S.D. Roosendaal, T. van de Brug, C.A.P.F. Alves, S. Blaser, A. Vanderver, N.I. Wolf, and M.S. van der Knaap ABSTRACT BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heter- ogeneity. Mitochondrial defects cause 5%–10% of leukodystrophies. Our objective was to define MR imaging features commonly shared by mitochondrial leukodystrophies and to distinguish MR imaging patterns related to specific genetic defects. MATERIALS AND METHODS: One hundred thirty-two patients with a mitochondrial leukodystrophy with known genetic defects were identified in the data base of the Amsterdam Leukodystrophy Center. Numerous anatomic structures were systematically assessed on brain MR imaging. Additionally, lesion characteristics were scored. Statistical group analysis was performed for 57 MR imaging features by hierarchic testing on clustered genetic subgroups. RESULTS: MR imaging features indicative of mitochondrial disease that were frequently found included white matter rarefaction (n ¼ 50 patients), well-delineated cysts (n ¼ 20 patients), T2 hyperintensity of the middle blade of the corpus callosum (n ¼ 85 patients), and symmetric abnormalities in deep gray matter structures (n ¼ 42 patients). Several disorders or clusters of disorders

Journal

American Journal of NeuroradiologyAmerican Journal of Neuroradiology

Published: Apr 15, 2021

References