Pearson syndrome
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Updated: Feb 15, 2026

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Piero Farruggia1, Floriana Di Marco1, Carlo Dufour2
1a Pediatric Hematology and Oncology Unit, Oncology Department , A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli , Palermo , Italy.
Introduction:
Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.
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