Children (Apr 2022)

Quantitative MR in Paediatric Patients with Wilson Disease: A Case Series Review

  • Kamil Janowski,
  • Elizabeth Shumbayawonda,
  • Matt Kelly,
  • Carlos Ferreira,
  • Maciej Pronicki,
  • Wieslawa Grajkowska,
  • Magdalena Naorniakowska,
  • Piotr Pawliszak,
  • Sylwia Chełstowska,
  • Elżbieta Jurkiewicz,
  • Rajarshi Banerjee,
  • Piotr Socha

DOI
https://doi.org/10.3390/children9050613
Journal volume & issue
Vol. 9, no. 5
p. 613

Abstract

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Wilson disease (WD) is a liver disorder characterized by improper copper metabolism. Although non-invasive tools are currently used to support diagnosis and management, this is still an area of unmet need, as patients present with a wide range of symptoms. Our aim was to investigate the potential utility of multiparametric magnetic resonance imaging (mpMRI) and quantitative magnetic resonance cholangiopancreatography (MRCP+) to support patient management. MRI examinations of 7 children and young adults aged 8–16 years (six at diagnosis) were performed alongside a standard of care clinical and histological examination. Images were quantitatively analyzed to derive metrics of liver (corrected T1 (cT1; fibro-inflammation), MR liver fat (proton density fat fraction; PDFF)), and biliary health (MRCP+). MRI–PDFF provided a more dynamic characterization of fat compared with that provided by ultrasound. Those with elevated histological scores of fibrosis, inflammation, and steatosis had elevated mpMRI values. MRCP+ managed to identify dilatations in the biliary tree which were not observed during the standard of care examination. mpMRI and MRCP+ metrics show early promise as markers to assess both liver and biliary health in Wilson disease. Investigations to understand and explore the utility of these markers are warranted and should be performed.

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