MTDNA DELETION IN AN IRANIAN INFANT WITH PEARSON MARROW SYNDROME

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ARZANIAN M.T.; EGHBALI AZIZ; KARIMZADEH P.; AHMADI MITRA; HOUSHMAND MASOUD; REZAEI NIMA

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Title

MTDNA DELETION IN AN IRANIAN INFANT WITH PEARSON MARROW SYNDROME

Author(s)

Keywords

MTDNA

MITOCHONDRIAL DNA

PEARSON MARROW SYNDROME

EXOCRINE PANCREATIC INSUFFICIENCY

PANCYTOPENIA

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.

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APA: Copy

ARZANIAN, M.T., EGHBALI, AZIZ, KARIMZADEH, P., AHMADI, MITRA, HOUSHMAND, MASOUD, & REZAEI, NIMA. (2010). MTDNA DELETION IN AN IRANIAN INFANT WITH PEARSON MARROW SYNDROME. IRANIAN JOURNAL OF PEDIATRICS, 20(1), 107-112. SID. https://sid.ir/paper/572587/en

Vancouver: Copy

ARZANIAN M.T., EGHBALI AZIZ, KARIMZADEH P., AHMADI MITRA, HOUSHMAND MASOUD, REZAEI NIMA. MTDNA DELETION IN AN IRANIAN INFANT WITH PEARSON MARROW SYNDROME. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2010;20(1):107-112. Available from: https://sid.ir/paper/572587/en

IEEE: Copy

M.T. ARZANIAN, AZIZ EGHBALI, P. KARIMZADEH, MITRA AHMADI, MASOUD HOUSHMAND, and NIMA REZAEI, “MTDNA DELETION IN AN IRANIAN INFANT WITH PEARSON MARROW SYNDROME,” IRANIAN JOURNAL OF PEDIATRICS, vol. 20, no. 1, pp. 107–112, 2010, [Online]. Available: https://sid.ir/paper/572587/en

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