Bone marrow - nonneoplastic
Systemic disorders
Pearson syndrome

Author: Nat Pernick, M.D. (see Authors page)

Revised: 28 June 2017, last major update December 2006

Copyright: (c) 2002-2017,, Inc.

PubMed Search: Bone marrow Pearson syndrome

Cite this page: Pearson syndrome. website. Accessed October 19th, 2018.
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

Images hosted on other servers:

Aspirate smear shows few spicules

Pronormoblast with vacuoles

Occasional ringed sideroblasts (Prussian blue)

Molecular / cytogenetics description
  • Deletion mutations in mitochondrial DNA