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Clinical manifestations and management of four children with Pearson syndrome
Author(s) -
Tumino Manuela,
Meli Concetta,
Farruggia Piero,
La Spina Milena,
Faraci Maura,
Castana Cinzia,
Di Raimondo Vincenzo,
Alfano Marivana,
Pittalà Annarita,
Lo Nigro Luca,
Russo Giovanna,
Di Cataldo Andrea
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34288
Subject(s) - medicine , hematopoietic stem cell transplantation , disease , transplantation , malignancy , mitochondrial disease , bone marrow transplantation , pediatrics , mitochondrial dna , biology , gene , biochemistry
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.