mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

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.