title: Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity.
abstract: BACKGROUND
  Leigh disease is a metabolic disorder of the mitochondrial respiratory chain culminating in symmetrical necrotizing lesions in the deep gray nuclei or brainstem. Apart from classic gliotic/necrotic lesions, small-vessel proliferation is also characteristic on histopathology. We have observed lesional hyperperfusion on arterial spin-labeling (ASL) sequence in children with Leigh disease.
  
  
  OBJECTIVE
  In this cross-sectional analysis, we evaluated lesional ASL perfusion characteristics in children with Leigh syndrome.
  
  
  METHODS
  We searched the imaging database from an academic children's hospital for "arterial spin labeling, perfusion, necrosis, lactate, and Leigh" to build a cohort of children for retrospective analysis. We reviewed each child's medical record to confirm a diagnosis of Leigh disease, excluding exams with artifact, technical limitations, and without ASL images. We evaluated the degree and extent of cerebral blood flow and relationship to brain lesions. Images were compared to normal exams from an aged-matche cohort.
  
  
  RESULTS
  The database search yielded 45 exams; 30 were excluded. We evaluated 15 exams from 8 children with Leigh disease and 15 age-matched normal exams. In general, Leigh brain perfusion ranged from hyperintense (n=10) to hypointense (n=5). Necrotic lesions appeared hypointense/hypoperfused. Active lesions with associated restricted diffusion demonstrated hyperperfusion. ASL perfusion patterns differed significantly from those on age-matched normal studies (P=<.0001). Disease activity positively correlated with cerebral deep gray nuclei hyperperfusion (P=0.0037) and lesion grade (P=0.0256).
  
  
  CONCLUSIONS
  Children with Leigh disease have abnormal perfusion of brain lesions. Hyperperfusion can be found in active brain lesions, possibly associated with small-vessel proliferation characteristic of the disease.
authors.affiliation: Department of Radiology, Children's National Medical Center, 111 Michigan Ave. NW, Washington, DC, 20010, USA. matthewthomaswhitehead@gmail.com.|The George Washington University School of Medicine, Washington, DC, USA. matthewthomaswhitehead@gmail.com.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.affiliation: Department of Radiology, The Johns Hopkins Medical Institute, Baltimore, MD, USA.
authors.forename: Bonmyong
authors.initials: B
authors.lastname: Lee
authors.affiliation: The George Washington University School of Medicine, Washington, DC, USA.|Department of Neurology, Children's National Medical Center, Washington, DC, USA.
authors.forename: Andrea
authors.initials: A
authors.lastname: Gropman
mesh_terms: D002560:Cerebrovascular Circulation; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D056324:Diffusion Tensor Imaging / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000000981:diagnostic imaging* / Q000473:pathology*; D018810:Magnetic Resonance Angiography / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D012189:Retrospective Studies; D013113:Spin Labels
chemical_list: D013113:Spin Labels
keywords: Arterial spin labeling; Children; Leigh disease; Magnetic resonance imaging; Metabolic disease; Perfusion