Published April 1, 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
American Journal of Neuroradiology – American Journal of Neuroradiology
Published: Apr 1, 2021
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