Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Orphanet J Rare Dis. 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9.


Pearson syndrome (PS) is a rare fatal mitochondrial disorder caused by single large-scale mitochondrial DNA deletions (SLSMDs). Most patients present with anemia in infancy. Bone marrow cytology with vacuolization in erythroid and myeloid precursors and ring-sideroblasts guides to the correct diagnosis, which is established by detection of SLSMDs. Non hematological symptoms suggesting a mitochondrial disease are often lacking at initial presentation, thus PS is an important differential diagnosis in isolated hypogenerative anemia in infancy. Spontaneous resolution of anemia occurs in two-third of patients at the age of 1-3 years, while multisystem non-hematological complications such as failure to thrive, muscle hypotonia, exocrine pancreas insufficiency, renal tubulopathy and cardiac dysfunction develop during the clinical course. Some patients with PS experience a phenotypical change to Kearns-Sayre syndrome. In the absence of curative therapy, the prognosis of patients with PS is dismal. Most patients die of acute lactic acidosis and multi-organ failure in early childhood. There is a great need for the development of novel therapies to alter the natural history of patients with PS.

Keywords: Mitochondrial DNA deletion; Natural history; Pearson syndrome.

Publication types

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

MeSH terms

  • Anemia* / complications
  • Anemia* / genetics
  • Child, Preschool
  • Congenital Bone Marrow Failure Syndromes
  • DNA, Mitochondrial / genetics
  • Humans
  • Infant
  • Kearns-Sayre Syndrome* / complications
  • Kearns-Sayre Syndrome* / genetics
  • Lipid Metabolism, Inborn Errors
  • Mitochondrial Diseases* / genetics
  • Muscular Diseases


  • DNA, Mitochondrial

Supplementary concepts

  • VLCAD deficiency