Title of article :
mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome
Author/Authors :
Arzanian, Mohammad Taghi Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences , Eghbali, Aziz Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences , Karimzade, Parvaneh Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences , Ahmadi, Mitra Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences , Houshmand, Massoud National Institute for Genetic Engineering and Biotechnology(NIGEB) , Rezaei, Nima Tehran University of Medical Sciences
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
Journal title :
Astroparticle Physics
