Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

ObjectiveSuccinate 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.
MethodsNineteen 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).
ResultsAll 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 with sparing of the U fibers, the corpus callosum with sparing of the outer blades, the basis pontis, middle cerebellar peduncles, and cerebellar white matter, and elevated succinate on magnetic resonance spectroscopy (MRS). The thalamus was involved in most studies, with a predilection for the anterior nucleus, pulvinar, and geniculate bodies. Clinically, infantile onset neurological regression with partial recovery and subsequent stabilization was typical. All individuals had mutations in SDHA, SDHB, or SDHAF1, or proven biochemical defect.
InterpretationSuccinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with adv...

Source: Annals of Neurology - February 12, 2016 Category: Neurology Authors: Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J. Michael Taylor, Keith Van Haren, , Ryan J. Taft, Adeline Vanderver, Marjo S. van der Knaap Tags: Research Article Source Type: research