Bone Marrow - nonneoplastic
Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 8 October 2013, last major update December 2006
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- 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)
Aspirate smear shows few spicules
Occasional ringed sideroblasts (Prussian blue)
- Deletion mutations in mitochondrial DNA
End of Bone Marrow - nonneoplastic > Systemic disorders > Pearson syndrome
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