Pearson syndrome

Expert Rev Hematol. 2018 Mar;11(3):239-246. doi: 10.1080/17474086.2018.1426454. Epub 2018 Jan 23.

Abstract

Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

Keywords: Pearson syndrome; anemia; childhood; mitochondria; mitochondriopathies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics
  • Acyl-CoA Dehydrogenase, Long-Chain / metabolism
  • Anemia, Sideroblastic / genetics
  • Anemia, Sideroblastic / metabolism
  • Anemia, Sideroblastic / pathology
  • Anemia, Sideroblastic / therapy
  • Congenital Bone Marrow Failure Syndromes
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Humans
  • Lipid Metabolism, Inborn Errors* / genetics
  • Lipid Metabolism, Inborn Errors* / metabolism
  • Lipid Metabolism, Inborn Errors* / pathology
  • Lipid Metabolism, Inborn Errors* / therapy
  • Mitochondrial Diseases* / genetics
  • Mitochondrial Diseases* / metabolism
  • Mitochondrial Diseases* / pathology
  • Mitochondrial Diseases* / therapy
  • Muscular Diseases* / genetics
  • Muscular Diseases* / metabolism
  • Muscular Diseases* / pathology
  • Muscular Diseases* / therapy

Substances

  • DNA, Mitochondrial
  • Acyl-CoA Dehydrogenase, Long-Chain

Supplementary concepts

  • VLCAD deficiency