Clinical manifestations and management of four children with Pearson syndrome

Manuela Tumino, Concetta Meli, Piero Farruggia, Milena La Spina, Maura Faraci, Cinzia Castana, Vincenzo Di Raimondo, Marivana Alfano, Annarita Pittalà, Luca Lo Nigro, Giovanna Russo, Andrea Di Cataldo

Research output: Contribution to journalArticlepeer-review


Pearson marrow-pancreas syndrome is a fatal disorder mostly diagnosed during infancy and caused by mutations of mitochondrial DNA. We hereby report on four children affected by Pearson syndrome with hematological disorders at onset. The disease was fatal to three of them and the fourth one, who received hematopoietic stem cell transplantation, died of secondary malignancy. In this latter patient transplantation corrected hematological and non-hematological issues like metabolic acidosis, and we therefore argue that it could be considered as a useful option in an early stage of the disease.

Original languageEnglish
Pages (from-to)3063-3066
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
Publication statusPublished - Dec 2011


  • Anemia
  • Hematopoietic stem cell transplantation
  • Mitochondrial disorders
  • Pearson marrow-pancreas syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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