SEVERE LACTIC-ACIDOSIS AND NEONATAL DEATH IN PEARSON SYNDROME

Pearson marrow-pancreas syndrome, a fatal disease associated with mito chondrial DNA rearrangements, is characterized by refractory siderobla stic anaemia during infancy. Only a few neonates with Pearson syndrome have been reported with metabolic acidosis. A female neonate who exhi bited severe metabolic acidosis and anaemia at birth is described here . Her condition progressively worsened, with pancytopenia and uncontro llable metabolic acidosis resulting in death at the age of 14 days. A 4988-base pair deletion of mtDNA was detected in the patient's leukocy tes, liver and muscle. When a neonate exhibits severe metabolic acidos is of unknown cause, the possibility of Pearson syndrome should be con sidered.