Pearson et al described a syndrome which is now known to be associated with a deletion of mitochondrial DNA resulting in a defect in the mitochondrial respiratory chain.

Classic features of Pearson’s syndrome:

(1) refractory sideroblastic anemia with macrocytosis and transfusion dependency

(2) variable degree of neutropenia and thrombocytopenia

(3) vacuolated marrow precursors

(4) exocrine pancreatic insufficiency with variable malabsorption


Additional findings may include:

(1) lactic acidosis with high lactate to pyruvate molar ratios

(2) proximal renal tubular acidosis and/or renal Fanconi syndrome

(3) liver dysfunction including hepatic failure


Many of the affected patients die in early childhood.

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