mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome

作者：Arzanian Mohammad Taghi; Eghbali Aziz^*; Karimzade Parvaneh; Ahmadi Mitra; Houshmand Massoud; Rezaei Nima

来源：Iranian Journal of Pediatrics, 2010, 20(1): 107-112.

• mtDNA
• Mitochondrial DNA
• Pearson marrow syndrome
• Exocrine Pancreatic Insufficiency
• Pancytopenia

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.

• 出版日期2010-3