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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Tehran University of Medical Sciences
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445998/ https://www.ncbi.nlm.nih.gov/pubmed/23056691 |
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author | Arzanian, Mohammad Taghi Eghbali, Aziz Karimzade, Parvaneh Ahmadi, Mitra Houshmand, Massoud Rezaei, Nima |
author_facet | Arzanian, Mohammad Taghi Eghbali, Aziz Karimzade, Parvaneh Ahmadi, Mitra Houshmand, Massoud Rezaei, Nima |
author_sort | Arzanian, Mohammad Taghi |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3445998 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Tehran University of Medical Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-34459982012-10-09 mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome Arzanian, Mohammad Taghi Eghbali, Aziz Karimzade, Parvaneh Ahmadi, Mitra Houshmand, Massoud Rezaei, Nima Iran J Pediatr Case Report 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. Tehran University of Medical Sciences 2010-03 /pmc/articles/PMC3445998/ /pubmed/23056691 Text en © 2010 Iranian Journal of Pediatrics & Tehran University of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. |
spellingShingle | Case Report Arzanian, Mohammad Taghi Eghbali, Aziz Karimzade, Parvaneh Ahmadi, Mitra Houshmand, Massoud Rezaei, Nima mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title | mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title_full | mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title_fullStr | mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title_full_unstemmed | mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title_short | mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome |
title_sort | mtdna deletion in an iranian infant with pearson marrow syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445998/ https://www.ncbi.nlm.nih.gov/pubmed/23056691 |
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