title: Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
abstract: 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.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Neurology, Children's National Health System, Washington, DC.|Center for Genetic Medicine Research, Children's National Health System, Washington, DC.
authors.forename: Guy
authors.initials: G
authors.lastname: Helman
authors.affiliation: Center for Genetic Medicine Research, Children's National Health System, Washington, DC.
authors.forename: Ljubica
authors.initials: L
authors.lastname: Caldovic
authors.affiliation: Department of Neuroradiology, Children's National Health System, Washington, DC.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.affiliation: Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.
authors.forename: Cas
authors.initials: C
authors.lastname: Simons
authors.affiliation: Department of Pediatrics and Pediatric Neurology, Georg-August University, Göttingen, Germany.
authors.forename: Knut
authors.initials: K
authors.lastname: Brockmann
authors.affiliation: Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Simon
authors.initials: S
authors.lastname: Edvardson
authors.affiliation: GeneDX, Gaithersburg, MD.
authors.forename: Renkui
authors.initials: R
authors.lastname: Bai
authors.affiliation: Child Neurology Unit, Foundation "Carlo Besta" Institute of Neurology-Institute of Hospitalization and Scientific Care, Milan, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.affiliation: Division of Neurology, Cincinnati Children's Hospital, Cincinnati, OH.
authors.forename: J Michael
authors.initials: JM
authors.lastname: Taylor
authors.affiliation: Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA.
authors.forename: Keith
authors.initials: K
authors.lastname: Van Haren
authors.affiliation: Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia.|Illumina, San Diego, CA.|School of Medicine and Health Sciences, George Washington University, Washington, DC.
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Taft
authors.affiliation: Department of Neurology, Children's National Health System, Washington, DC.|Center for Genetic Medicine Research, Children's National Health System, Washington, DC.|School of Medicine and Health Sciences, George Washington University, Washington, DC.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.affiliation: Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.|Department of Functional Genomics, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D056784:Leukoencephalopathies / Q000201:enzymology* / Q000473:pathology*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D011712:Pyramidal Tracts / Q000201:enzymology / Q000473:pathology; D013116:Spinal Cord / Q000201:enzymology / Q000473:pathology*; D013385:Succinate Dehydrogenase / Q000172:deficiency*; D013788:Thalamus / Q000201:enzymology / Q000473:pathology*
chemical_list: D013385:Succinate Dehydrogenase