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Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

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Book cover JIMD Reports, Volume 26

Part of the book series: JIMD Reports ((JIMD,volume 26))

Abstract

Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder involving the liver, kidney, pancreas, and hematopoietic and central nervous system. It is characterized principally by a transfusion-dependent anemia that usually improves over time, a tendency to develop severe infections, and a high mortality rate. We describe a group of 11 PS patients diagnosed in Italy in the period 1993–2014. The analysis of this reasonably sized cohort of patients contributes to the clinical profile of the disease and highlights a rough incidence of 1 case/million newborns. Furthermore, it seems that some biochemical parameters like increased serum alanine and urinary fumaric acid can help to address an early diagnosis.

Competing interests: None declared

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Abbreviations

ADA:

Adenosine deaminase

A.I.E.O.P.:

Associazione Italiana di Ematologia ed Oncologia Pediatrica

ANC:

Absolute neutrophil count

BFU:

Burst-forming units

BM:

Bone marrow

BMF:

Bone marrow failure

CFU-E:

Colony forming unit-erythroid

CFU-GM:

Colony forming unit-granulocyte macrophage

CRF:

Case report form

CT:

Computed tomography

DBA:

Diamond–Blackfan anemia

EPO:

Erythropoietin

FUP:

Follow-up

GCSF:

Granulocyte colony stimulating factor

Hgb:

Hemoglobin

IDDM:

Insulin-dependent diabetes mellitus

KSS:

Kearns–Sayre syndrome

LS:

Leigh syndrome

MRI:

Magnetic resonance imaging

mtDNA:

Mitochondrial DNA

PRBC:

Packed red blood cells

PS:

Pearson syndrome

VWT:

Ventricular wall thickness

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Acknowledgments

Giuseppe Furfari is acknowledged for electronic CRF design. The Parents’ Association A.S.L.T.I – Liberi di crescere is acknowledged for supporting the activity of the Pediatric Onco-Hematology Unit of A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli. No specific funding was received for this study.

Author information

Authors and Affiliations

  1. Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy

    Piero Farruggia & Alessandra Macaluso

  2. Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy

    Andrea Di Cataldo, Laura Lo Valvo & Giovanna Russo

  3. Oncoematologia Pediatrica, Ospedale Bambino Gesù, Rome, Italy

    Rita M. Pinto

  4. Clinical and Experimental Unit G. Gaslini Children’s Hospital, Genova, Italy

    Elena Palmisani, Francesca Fioredda & Carlo Dufour

  5. Dipartimento di Oncoematologia Pediatrica, “Lalla Seragnoli” Clinica Pediatrica Policlinico Sant’Orsola Malpighi, Bologna, Italy

    Maria E. Cantarini

  6. Oncoematologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy

    Assunta Tornesello

  7. Fondazione MBBM, Clinica Pediatrica, Università di Milano – Bicocca, A.O. San Gerardo, Monza, Italy

    Paola Corti

  8. Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy

    Stefania Varotto & Marta Pillon

  9. Dipartimento di Scienze e Chirurgia Pediatriche, U. O. Oncoematologia Pediatrica, Ospedale Policlinico-Giovanni XXIII, Bari, Italy

    Baldo Martire

  10. Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy

    Isabella Moroni

  11. Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy

    Giuseppe Puccio

Authors
  1. Piero Farruggia
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  2. Andrea Di Cataldo
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  3. Rita M. Pinto
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  4. Elena Palmisani
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  5. Alessandra Macaluso
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  6. Laura Lo Valvo
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  7. Maria E. Cantarini
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  8. Assunta Tornesello
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  9. Paola Corti
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  10. Francesca Fioredda
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  11. Stefania Varotto
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  12. Baldo Martire
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  13. Isabella Moroni
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  14. Giuseppe Puccio
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  15. Giovanna Russo
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  16. Carlo Dufour
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  17. Marta Pillon
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Corresponding author

Correspondence to Piero Farruggia .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany

    Verena Peters

Additional information

Communicated by: Ertan Mayatepek, MD

Appendices

Take-Home Message

PS is a severe mitochondrial disorder characterized by increased alanine and lactate serum levels and fumaric acid urinary excretion and a frequent recovery of bone marrow (BM) in the case of survival after the first 2–3 years of life.

This article does not contain any studies with human or animal subjects performed by any of the authors.

Funding Source

No external funding was secured for this study.

Financial Disclosure

No authors have any financial relationships relevant to this article to disclose.

Compliance with Ethical Guidelines

Conflict of Interest

No authors have any conflicts of interest to disclose.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Contributor’s Statements

Drs. Farruggia and Di Cataldo conceptualized and designed the study and the data collection instruments. Drs. Farruggia, Pillon, and Dufour carried out the initial analyses and drafted the initial manuscript. Drs. Farruggia, Puccio, and Macaluso coordinated data collection and performed the statistical analysis. Drs. Macaluso, Palmisani, Pinto, Lo Valvo, Cantarini, Tornesello, Corti, Fioredda, Varotto, Martire, Russo, and Moroni contributed to the enrollment of patients, diagnosis, and sample collection.

All authors critically reviewed the paper, approved the final manuscript as submitted, and agreed to be accountable for all aspects of the work.

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Farruggia, P. et al. (2015). Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_470

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  • DOI: https://doi.org/10.1007/8904_2015_470

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  • Print ISBN: 978-3-662-49832-3

  • Online ISBN: 978-3-662-49833-0

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