Pearson syndrome

Key words: Pearson syndrome, Mitochondria, Mitochondriopathies

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.