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Case Reports
. 2021 Oct;119(5):e559-e561.
doi: 10.5546/aap.2021.eng.e559.

Pearson syndrome in a child transplanted for Diamond-Blackfan anemia

[Article in English, Spanish]
Vedat Uygun  1 , Hayriye Daloğlu  2 , Seda Öztürkmen  3 , Gülsün Karasu  3 , Akif Yeşilipek  3
Affiliations
Free article
Case Reports

Pearson syndrome in a child transplanted for Diamond-Blackfan anemia

[Article in English, Spanish]
Vedat Uygun et al. Arch Argent Pediatr. 2021 Oct.
Free article

Abstract
in English, Spanish

Pearson syndrome (PS), shares a number of overlapping features with Diamond-Blackfan anemia (DBA), including early onset of severe anemia, making differential diagnosis important. Differential diagnosis of DBA and PS is critical, since those with DBA may respond to treatment with steroids, may undergo remission, or may benefit from hematopoietic stem cell transplantation (HSCT). However, patients with PS have a different prognosis, with a very high risk of developing acidosis, metabolic problems, and pancreatic dysfunction, and a shorter life expectancy than those with DBA. Here we present a patient who underwent HSCT for DBA but was subsequently diagnosed with PS after developing some complications.

El síndrome de Pearson (SP) comparte varias características con la anemia de Diamond-Blackfan (ADB), incluida la anemia grave de inicio temprano, por lo que es importante hacer un diagnóstico diferencial. El diagnóstico diferencial de la ADB y el SP es fundamental, ya que los pacientes con ADB podrían responder al tratamiento con corticoesteroides, presentar remisión o beneficiarse del trasplante de células madre hematopoyéticas (TCMH). Sin embargo, los pacientes con SP tienen un pronóstico diferente, con un riesgo muy elevado de acidosis, problemas metabólicos y disfunción pancreática, y una expectativa de vida menor en comparación con aquellos con ADB. En este artículo, presentamos el caso de un paciente sometido a TCMH para la ADB, pero que luego fue diagnosticado con SP tras desarrollar algunas complicaciones.

Keywords: Diamond-Blackfan anemia; Pearson syndrome; hematopoietic stem cell transplantation.

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Conflict of interest statement

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References

    1. Willig TN, Niemeyer CM, Leblanc T, Tiemann C, et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d’Hematologie et d’Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res. 1999; 46(5):553-61.
    1. Da Costa L, O’Donohue MF, van Dooijeweert B, Albrecht K, et al. Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet. 2018; 61(11):664-73.
    1. Fagioli F, Quarello P, Zecca M, Lanino E, et al. Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Br J Haematol. 2014; 165(5):673-81.
    1. Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, et al. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD Rep. 2016; 26:37-43.
    1. Finsterer J, Frank M. Glucocorticoids for mitochondrial disorders. Singapore Med J. 2015; 56(2):122-3.

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