Problemi speciali
La sindrome di Pearson
Pearson syndrome
Piero Farruggia1, Floriana Di Marco1, Carlo Dufour2
1Oncoematologia Pediatrica, ARNAS Ospedali “Civico, Di Cristina e Benfratelli”, Palermo
2Ematologia, Istituto “G. Gaslini”, Genova
Giugno 2018 - pagg. 371 -377
Abstract
Pearson syndrome is a sporadic and very rare progressive generalised disorder with
heterogeneity in clinical expression classically associated with single large-scale deletions
of mitochondrial DNA: it is characterised by refractory sideroblastic anaemia during
infancy. The general improvement of support therapy probably explains the better
survival rate reported in more recent series. Its prognosis remains poor, but early diagnosis
will help to improve clinical course.
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Classificazione MeSH
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Corrispondenza: piero.farruggia@arnascivico.it
