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Allogeneic bone marrow transplantation for Pearson's syndrome

Bone Marrow Transplantation volume 39, pages 563–565 (2007)Cite this article

Pearson's syndrome (PS) is a generalized mitochondropathy that occurs in infancy owing to a deletion or duplication of mitochondrial DNA (mtDNA).1 PS is characterized by hypoplastic macrocytic anemia alone or associated with thrombocytopenia or granulocytopenia, proximal tubular insufficiency, exocrine and endocrine pancreas insufficiency, failure to thrive, lactic acidosis with increased lactate/pyruvate ratio, urinary excretion of lactate and related organic acids, hyperlipidemia with liver steatosis and skin lesions.2 Prognosis is severe and death occurs in infancy or early childhood owing to metabolic disorders and/or severe infections. Neurological deterioration as a Kearns–Sayre syndrome3 usually appears in school-age children. Patients with hematological involvement receive support therapy but, currently, no specific treatment exists for PS.

We report a patient affected by PS with bone marrow (BM), renal and pancreas involvement, who received two unrelated donor hematopoietic stem cell transplantation (UD-HSCT).

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Acknowledgements

This work was supported by the ‘Ministero della Salute – Ricerca Finalizzata Ministeriale’, ‘Fondazione CARIGE’, and ‘Compagnia San Paolo’.

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Authors and Affiliations

  1. Department of Hematology and Oncology, Bone Marrow Transplant Unit, G. Gaslini Institute, Genova, Italy

    M Faraci, C Micalizzi, E Lanino, G Morreale, S Dallorso, G Dini & B Cappelli

  2. Center of Pediatric Hematology Oncology, University of Catania, Catania, Italy

    D Cuzzubbo

  3. Department of Hematology and Oncology, Infectious Diseases Unit, G. Gaslini Institute, Genova, Italy

    E Castagnola

  4. Department of Pediatrics, G. Gaslini Institute, School of Medicine, University of Genova, Genova, Italy

    M C Schiaffino & C Bruno

  5. Neuroradiology Unit, G. Gaslini Institute, Genova, Italy. E-mail: maurafaraci@ospedale-gaslini.ge.it,

    A Rossi

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  1. M Faraci
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  2. D Cuzzubbo
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  11. G Dini
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  12. B Cappelli
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Faraci, M., Cuzzubbo, D., Micalizzi, C. et al. Allogeneic bone marrow transplantation for Pearson's syndrome. Bone Marrow Transplant 39, 563–565 (2007). https://doi.org/10.1038/sj.bmt.1705638

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