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Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
Author(s) -
Helman Guy,
Caldovic Ljubica,
Whitehead Matthew T.,
Simons Cas,
Brockmann Knut,
Edvardson Simon,
Bai Renkui,
Moroni Isabella,
Taylor J. Michael,
Van Haren Keith,
Taft Ryan J.,
Vanderver Adeline,
van der Knaap Marjo S.
Publication year - 2016
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24572
Subject(s) - corpus callosum , white matter , magnetic resonance imaging , pathology , leukoencephalopathy , medicine , grey matter , neuroimaging , neuroscience , psychology , radiology
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 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. Interpretation Succinate dehydrogenase deficiency is a rare leukoencephalopathy, for which improved recognition by magnetic resonance imaging (MRI) in combination with advanced sequencing technologies allows noninvasive diagnostic confirmation. The MRI pattern is characterized by cerebral hemispheric white matter abnormalities with sparing of the U fibers, corpus callosum involvement with sparing of the outer blades, and involvement of corticospinal tracts, thalami, and spinal cord. In individuals with infantile regression and this pattern of MRI abnormalities, the differential diagnosis should include succinate dehydrogenase deficiency, in particular if MRS shows elevated succinate. Ann Neurol 2016 ANN NEUROL 2016;79:379–386