Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

ABSTRACT:

Objective

Succinate dehydrogenase-deficient leukoencephalopathy is a complex II-related mitochondrial disorder for which the clinical phenotype, neuroimaging pattern, and genetic findings have not been comprehensively reviewed.

Methods

Nineteen individuals with succinate dehydrogenase deficiency-related leukoencephalopathy were reviewed for neuroradiological, clinical, and genetic findings as part of institutional review board-approved studies at Children's National Health System (Washington, DC) and VU University Medical Center (Amsterdam, the Netherlands).

Results

All individuals had signal abnormalities in the central corticospinal tracts and spinal cord where imaging was available. Other typical findings were involvement of the cerebral hemispheric white matter wi

SUBMITTER: Helman G 

PROVIDER: S-EPMC5712845 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature