Prenatal manifestation of pancytopenia in Pearson Marrow-Pancreas Syndrome

Pearson marrow-pancreas syndrome is a fatal disease characterized by refractory sideroblastic anemia with vacuolization of marrow precursors, dysfunction of the exocrine pancreas and severe lactic acidosis, caused by mitochondrial DNA (mtDNA) deletions and duplications. We report on a male neonate in whom pancytopenia was already diagnosed prenatally by ultrasound (cerebral blood flow). He exhibited severe metabolic acidosis and anemia at birth and in the clinical course his condition progressively worsened with severe pancytopenia and metabolic acidosis resulting in death after 12 weeks. DNA was extracted from peripheral leukocytes of the patient and his parents and examined using long polymerase chain reaction and southern blot hybridization. Sequence analysis revealed a 4381-base pair deletion of mtDNA in the patients but not in his parents leukocytes. Although seldom, in prenatal pancytopenia Pearson syndrome should be considered.

This work was kindly supported by Kind-Philipp-Stiftung.