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Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity

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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.

Materials and 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).

Conclusion

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.

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Authors and Affiliations

  1. Department of Radiology, Children’s National Medical Center, 111 Michigan Ave. NW, Washington, DC, 20010, USA

    Matthew T. Whitehead

  2. The George Washington University School of Medicine, Washington, DC, USA

    Matthew T. Whitehead & Andrea Gropman

  3. Department of Radiology, The Johns Hopkins Medical Institute, Baltimore, MD, USA

    Bonmyong Lee

  4. Department of Neurology, Children’s National Medical Center, Washington, DC, USA

    Andrea Gropman

Authors
  1. Matthew T. Whitehead
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  2. Bonmyong Lee
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  3. Andrea Gropman
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Correspondence to Matthew T. Whitehead.

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Whitehead, M.T., Lee, B. & Gropman, A. Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity. Pediatr Radiol 46, 1309–1316 (2016). https://doi.org/10.1007/s00247-016-3616-9

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  • DOI: https://doi.org/10.1007/s00247-016-3616-9

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