Imaging Patterns Characterizing Mitochondrial Leukodystrophies.

ABSTRACT:

Background and purpose

Achieving a specific diagnosis in leukodystrophies is often difficult due to clinical and genetic heterogeneity. 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 cluster

SUBMITTER: Roosendaal SD 

PROVIDER: S-EPMC8324261 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature