How to Cite this Article: Tumino M, Meli C, Farruggia P, La Spina M, Faraci M, Castana C, Di Raimondo V, Alfano M, Pittalà A, Lo Nigro L, Russo G, Di Cataldo A. 2011. Clinical manifestations and management of four children with Pearson syndrome. Am J Med Genet Part A 155: 3063–3066.
Article first published online: 19 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 3063–3066, December 2011
How to Cite
Tumino, M., Meli, C., Farruggia, P., La Spina, M., Faraci, M., Castana, C., Di Raimondo, V., Alfano, M., Pittalà, A., Lo Nigro, L., Russo, G. and Di Cataldo, A. (2011), Clinical manifestations and management of four children with Pearson syndrome. Am. J. Med. Genet., 155: 3063–3066. doi: 10.1002/ajmg.a.34288
Conflict of interest: Nothing to declare.
- Issue published online: 21 NOV 2011
- Article first published online: 19 OCT 2011
- Manuscript Accepted: 10 AUG 2011
- Manuscript Received: 9 MAY 2011
- IBISCUS, Lega per la Ricerca ed il trattamento della leucemia e dei tumori del bambino
- Pearson marrow-pancreas syndrome;
- mitochondrial disorders;
- hematopoietic stem cell transplantation
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. © 2011 Wiley Periodicals, Inc.