Bone marrow nonneoplastic

Noninfectious systemic disorders

Pearson syndrome

Last author update: 1 December 2006
Last staff update: 8 August 2019

Copyright: 2002-2019,, Inc.

PubMed Search: Bone marrow Pearson syndrome

Nat Pernick, M.D.
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Cite this page: Pernick N. Pearson syndrome. website. Accessed November 28th, 2023.
Definition / general
  • Rare childhood disorder with refractory anemia, vacuolization of bone marrow cells, lactic acidosis and pancreas insufficiency
  • Those with a mild phenotype or supported through bone marrow failure may develop the encephalopathic features of Kearns-Sayre syndrome (ophthalmoplegia, retinal degeneration, ataxia and endocrine abnormalities)
  • Varied organ involvement due to heteroplasmy (mixture of more than one type of mitochondrial DNA; different mixtures cause variable effects), although most die by age 3
  • Intramitochondrial iron accumulation causes sideroblastic anemia, also reduction in cytochrome c oxidase activity (Eur J Haematol 2006;77:169)
Case reports
Microscopic (histologic) images

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Aspirate smear shows few spicules

Pronormoblast with vacuoles

Occasional ringed sideroblasts (Prussian blue)

Molecular / cytogenetics description
  • Deletion mutations in mitochondrial DNA
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