Bone marrow nonneoplastic
Noninfectious systemic disorders
Pearson syndrome
Author: Nat Pernick, M.D.
Last author update: 1 December 2006
Last staff update: 8 August 2019
Copyright: 2002-2019, PathologyOutlines.com, Inc.
PubMed Search: Bone marrow Pearson syndrome
Table of Contents
Definition / general | Case reports | Microscopic (histologic) images | Molecular / cytogenetics description | Additional referencesCite this page: Pernick N. Pearson syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemarrowpearson.html. Accessed December 20th, 2024.
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
- Causing nonimmune hydrops fetalis (Chin Med J (Engl) 2003;116:1952)
- 3 month old girl with pancytopenia, failure to thrive, gastroesophageal reflux (University of Pittsburgh: Anemia, Neutropenia, and Lactic Acidosis)
- 6 month old girl without marrow involvement (Arch Dis Child 1997;77:56)
- Very young girl who developed Kearns-Sayre syndrome (Minerva Pediatr 2005;57:143)
- Kearns-Sayre syndrome with features of Pearson marrow pancreas syndrome (Hum Pathol 1999;30:577)
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
Additional references
