Display options
Cite
Farruggia P, Di Cataldo A, Pinto RM, 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. 2015;26:37-43doi: 10.1007/8904_2015_470.
Farruggia, P., Di Cataldo, A., Pinto, R. M., Palmisani, E., Macaluso, A., Valvo, L. L., Cantarini, M. E., Tornesello, A., Corti, P., Fioredda, F., Varotto, S., Martire, B., Moroni, I., Puccio, G., Russo, G., Dufour, C., & Pillon, M. (2016). Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). JIMD reports, 2637-43. https://doi.org/10.1007/8904_2015_470
Farruggia, Piero, 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 reports vol. 26 (2016): 37-43. doi: https://doi.org/10.1007/8904_2015_470
Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, Macaluso A, Valvo LL, Cantarini ME, Tornesello A, Corti P, Fioredda F, Varotto S, Martire B, Moroni I, Puccio G, Russo G, Dufour C, Pillon M. 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. doi: 10.1007/8904_2015_470. Epub 2015 Aug 04. PMID: 26238250; PMCID: PMC4864774.
Copy Download .nbib Format: NLM
Share it on

JIMD Rep. 2016;26:37-43. doi: 10.1007/8904_2015_470. Epub 2015 Aug 04.

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

JIMD reports

Piero Farruggia, Andrea Di Cataldo, Rita M Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda, Stefania Varotto, Baldo Martire, Isabella Moroni, Giuseppe Puccio, Giovanna Russo, Carlo Dufour, Marta Pillon

Affiliations

  1. Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy. [email protected].
  2. Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
  3. Oncoematologia Pediatrica, Ospedale Bambino Gesù, Rome, Italy.
  4. Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
  5. Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
  6. Dipartimento di Oncoematologia Pediatrica, "Lalla Seragnoli" Clinica Pediatrica Policlinico Sant'Orsola Malpighi, Bologna, Italy.
  7. Oncoematologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy.
  8. Fondazione MBBM, Clinica Pediatrica, Università di Milano - Bicocca, A.O. San Gerardo, Monza, Italy.
  9. Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy.
  10. Dipartimento di Scienze e Chirurgia Pediatriche, U. O. Oncoematologia Pediatrica, Ospedale Policlinico-Giovanni XXIII, Bari, Italy.
  11. Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
  12. Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.

PMID: 26238250 PMCID: PMC4864774 DOI: 10.1007/8904_2015_470

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.

Keywords: Anemia; Mitochondrial disorders; Pearson syndrome

References

  1. Eur J Med Genet. 2009 Jan-Feb;52(1):23-6 - PubMed
  2. Eur J Pediatr. 2009 Mar;168(3):311-5 - PubMed
  3. Am J Hum Genet. 2014 Dec 4;95(6):708-20 - PubMed
  4. Eur J Paediatr Neurol. 2007 Jul;11(4):208-14 - PubMed
  5. Hum Mol Genet. 1995 Aug;4(8):1327-30 - PubMed
  6. J Pediatr. 1979 Dec;95(6):976-84 - PubMed
  7. J Inherit Metab Dis. 1997 Sep;20(5):697-703 - PubMed
  8. Eur J Pediatr. 1993 Jan;152(1):44-50 - PubMed
  9. J Inherit Metab Dis. 2015 May;38(3):445-57 - PubMed
  10. Am J Med Genet. 2002 Jun 1;110(1):57-61 - PubMed
  11. Eur J Pediatr. 1993 Apr;152(4):378 - PubMed
  12. Am J Med Genet A. 2011 Dec;155A(12):3063-6 - PubMed
  13. Am J Hum Genet. 1991 Jan;48(1):39-42 - PubMed
  14. Clin Cardiol. 1984 Nov;7(11):603-5 - PubMed
  15. J Pediatr. 1992 Dec;121(6):940-2 - PubMed
  16. Turk J Pediatr. 2008 Nov-Dec;50(6):572-6 - PubMed
  17. Pediatr Neonatol. 2008 Aug;49(4):145-9 - PubMed
  18. Blood. 2014 Jul 17;124(3):437-40 - PubMed
  19. Neurology. 1996 Nov;47(5):1320-3 - PubMed

Publication Types