Neonatal Pearson syndrome. two case studies
Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe...
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| Veröffentlicht in: | Archives de pédiatrie : organe officiel de la Société française de pédiatrie 2010-01, Vol.17 (1), p.38-41 |
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| container_title | Archives de pédiatrie : organe officiel de la Société française de pédiatrie |
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| creator | Collin-Ducasse, H Maillotte, A-M Monpoux, F Boutté, P Ferrero-Vacher, C Paquis, V |
| description | Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample. |
| doi_str_mv | 10.1016/j.arcped.2009.10.006 |
| format | Article |
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Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample.</description><identifier>EISSN: 1769-664X</identifier><identifier>DOI: 10.1016/j.arcped.2009.10.006</identifier><identifier>PMID: 19914050</identifier><language>fre</language><publisher>France</publisher><subject>Anemia, Macrocytic - genetics ; Anemia, Macrocytic - pathology ; Anemia, Neonatal - genetics ; Anemia, Neonatal - pathology ; Anemia, Sideroblastic - genetics ; Anemia, Sideroblastic - pathology ; Biopsy, Needle ; Bone Marrow - pathology ; Consanguinity ; Diagnosis, Differential ; DNA Mutational Analysis ; DNA, Mitochondrial - genetics ; Female ; Humans ; Infant, Newborn ; Syndrome</subject><ispartof>Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-01, Vol.17 (1), p.38-41</ispartof><rights>Copyright 2009 Elsevier Masson SAS. 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Pearson syndrome is mostly diagnosed during infancy and characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells and exocrine pancreatic dysfunction. We describe two diagnosed cases of Pearson syndrome in the early neonatal period caused by severe macrocytic aregenerative anemia. Bone marrow aspiration revealed sideroblastic anemia and vacuolization of erythroblastic precursors. The diagnosis was confirmed by genetic analysis revealing a deletion in the mitochondrial DNA. These two newborns received monthly transfusions. Five other newborns suffering from Pearson syndrome with various clinical symptoms were found in literature. Pearson syndrome, rarely diagnosed in newborns, should be suspected in the presence of macrocytic aregenerative anemia and requires a bone marrow aspirate followed by a genetic analysis from a blood sample.</description><subject>Anemia, Macrocytic - genetics</subject><subject>Anemia, Macrocytic - pathology</subject><subject>Anemia, Neonatal - genetics</subject><subject>Anemia, Neonatal - pathology</subject><subject>Anemia, Sideroblastic - genetics</subject><subject>Anemia, Sideroblastic - pathology</subject><subject>Biopsy, Needle</subject><subject>Bone Marrow - pathology</subject><subject>Consanguinity</subject><subject>Diagnosis, Differential</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Female</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Syndrome</subject><issn>1769-664X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1j8FKxDAURYMgzjj6ByLduZDWl6ZJmqUMjgqDulBwV16bF-jQNjVpkfl7RxxXFw6HA5exKw4ZB67udhmGZiSb5QDmgDIAdcKWXCuTKlV8Lth5jDsAKKEUZ2zBjeEFSFiy2xfyA07YJW-EIfohifvBBt9TlkzfPmkwUhKn2bYUL9ipwy7S5XFX7GPz8L5-Srevj8_r-206HqJTSsI60zRWupIjaSwsl7JGK5U0OWjKFWBRW-24JEsgS-ectcpoqmWu81Ks2M1fdwz-a6Y4VX0bG-o6HMjPsdJCGAFC_prXR3Oue7LVGNoew776_yd-AEqAUfQ</recordid><startdate>201001</startdate><enddate>201001</enddate><creator>Collin-Ducasse, H</creator><creator>Maillotte, A-M</creator><creator>Monpoux, F</creator><creator>Boutté, P</creator><creator>Ferrero-Vacher, C</creator><creator>Paquis, V</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201001</creationdate><title>Neonatal Pearson syndrome. two case studies</title><author>Collin-Ducasse, H ; Maillotte, A-M ; Monpoux, F ; Boutté, P ; Ferrero-Vacher, C ; Paquis, V</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p140t-e3df9ccd5f81ae7a4d155bad5659207e260a4bd7f15ede058fffdd697eb527283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>fre</language><creationdate>2010</creationdate><topic>Anemia, Macrocytic - genetics</topic><topic>Anemia, Macrocytic - pathology</topic><topic>Anemia, Neonatal - genetics</topic><topic>Anemia, Neonatal - pathology</topic><topic>Anemia, Sideroblastic - genetics</topic><topic>Anemia, Sideroblastic - pathology</topic><topic>Biopsy, Needle</topic><topic>Bone Marrow - pathology</topic><topic>Consanguinity</topic><topic>Diagnosis, Differential</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Mitochondrial - genetics</topic><topic>Female</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Collin-Ducasse, H</creatorcontrib><creatorcontrib>Maillotte, A-M</creatorcontrib><creatorcontrib>Monpoux, F</creatorcontrib><creatorcontrib>Boutté, P</creatorcontrib><creatorcontrib>Ferrero-Vacher, C</creatorcontrib><creatorcontrib>Paquis, V</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Archives de pédiatrie : organe officiel de la Société française de pédiatrie</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Collin-Ducasse, H</au><au>Maillotte, A-M</au><au>Monpoux, F</au><au>Boutté, P</au><au>Ferrero-Vacher, C</au><au>Paquis, V</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neonatal Pearson syndrome. two case studies</atitle><jtitle>Archives de pédiatrie : organe officiel de la Société française de pédiatrie</jtitle><addtitle>Arch Pediatr</addtitle><date>2010-01</date><risdate>2010</risdate><volume>17</volume><issue>1</issue><spage>38</spage><epage>41</epage><pages>38-41</pages><eissn>1769-664X</eissn><abstract>Among the etiologies of anemia in the newborn, those related to mitochondrial cytopathies are rare. 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| identifier | EISSN: 1769-664X |
| ispartof | Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-01, Vol.17 (1), p.38-41 |
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| language | fre |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Anemia, Macrocytic - genetics Anemia, Macrocytic - pathology Anemia, Neonatal - genetics Anemia, Neonatal - pathology Anemia, Sideroblastic - genetics Anemia, Sideroblastic - pathology Biopsy, Needle Bone Marrow - pathology Consanguinity Diagnosis, Differential DNA Mutational Analysis DNA, Mitochondrial - genetics Female Humans Infant, Newborn Syndrome |
| title | Neonatal Pearson syndrome. two case studies |
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