JIMD Reports, Volume 26

Piero Farruggia, Andrea Di Cataldo, Rita M. Pinto, Elena Palmisani, Alessandra Macaluso, Laura Lo Valvo, Maria E. Cantarini, Assunta Tornesello, Paola Corti, Francesca Fioredda, Stefania Varotto, Baldo Martire, Isabella Moroni, Giuseppe Puccio, Giovanna Russo, Carlo Dufour, Marta Pillon, Farruggia, Piero, Di Cataldo, Andrea, Pinto, Rita M., Palmisani, Elena, Macaluso, Alessandra, Valvo, Laura Lo, Cantarini, Maria E., Tornesello, Assunta, Corti, Paola, Fioredda, Francesca, Varotto, Stefania, Martire, Baldo, Moroni, Isabella, Puccio, Giuseppe, Russo, Giovanna, Dufour, Carlo, Pillon, Marta

Pearson syndrome (PS) is a very rare and often fatal multisystemic mitochondrial disorder involving the liver, kidney, pancreas, and hematopoietic and central nervous system. It is characterized principally by a transfusion-dependent anemia that usually improves over time, a tendency to develop severe infections, and a high mortality rate. We describe a group of 11 PS patients diagnosed in Italy in the period 1993-2014. The analysis of this reasonably sized cohort of patients contributes to the clinical profile of the disease and highlights a rough incidence of 1 case/million newborns. Furthermore, it seems that some biochemical parameters like increased serum alanine and urinary fumaric acid can help to address an early diagnosis.