Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© © 2010 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences,All rights reserved.
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome|
Arzanian, Mohammad Taghi; Eghbali, Aziz; Karimzade, Parvaneh; Ahmadi, Mitra; Houshmand, Massoud & Rezaei, Nima
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.
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.
PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia.
mtDNA; Mitochondrial DNA; Pearson Marrow Syndrome; Exocrine Pancreatic Insufficiency; Pancytopenia
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