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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 20, No. 1, 2010, pp. 107-112
Bioline Code: pe10015
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 20, No. 1, 2010, pp. 107-112

 en mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
Arzanian, Mohammad Taghi; Eghbali, Aziz; Karimzade, Parvaneh; Ahmadi, Mitra; Houshmand, Massoud & Rezaei, Nima

Abstract

Background: Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure.
Case Presentation: We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS.
Conclusion: PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia.

Keywords
mtDNA; Mitochondrial DNA; Pearson Marrow Syndrome; Exocrine Pancreatic Insufficiency; Pancytopenia

 
© © 2010 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
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