title: Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica).
abstract: 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.
authors.affiliation: Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy. farruggia.oep@ospedalecivicopa.org.
authors.forename: Piero
authors.initials: P
authors.lastname: Farruggia
authors.affiliation: Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Di Cataldo
authors.affiliation: Oncoematologia Pediatrica, Ospedale Bambino Gesù, Rome, Italy.
authors.forename: Rita M
authors.initials: RM
authors.lastname: Pinto
authors.affiliation: Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Palmisani
authors.affiliation: Pediatric Hematology and Oncology Unit, Oncology Department, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Macaluso
authors.affiliation: Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
authors.forename: Laura Lo
authors.initials: LL
authors.lastname: Valvo
authors.affiliation: Dipartimento di Oncoematologia Pediatrica, "Lalla Seragnoli" Clinica Pediatrica Policlinico Sant'Orsola Malpighi, Bologna, Italy.
authors.forename: Maria E
authors.initials: ME
authors.lastname: Cantarini
authors.affiliation: Oncoematologia Pediatrica, Ospedale Vito Fazzi, Lecce, Italy.
authors.forename: Assunta
authors.initials: A
authors.lastname: Tornesello
authors.affiliation: Fondazione MBBM, Clinica Pediatrica, Università di Milano - Bicocca, A.O. San Gerardo, Monza, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Corti
authors.affiliation: Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Fioredda
authors.affiliation: Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Varotto
authors.affiliation: Dipartimento di Scienze e Chirurgia Pediatriche, U. O. Oncoematologia Pediatrica, Ospedale Policlinico-Giovanni XXIII, Bari, Italy.
authors.forename: Baldo
authors.initials: B
authors.lastname: Martire
authors.affiliation: Child Neurology Department, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.affiliation: Department of Sciences for Health Promotion and Mother and Child Care, University of Palermo, Palermo, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Puccio
authors.affiliation: Pediatric Hematology and Oncology Unit, Policlinico, University of Catania, Catania, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Russo
authors.affiliation: Clinical and Experimental Unit G. Gaslini Children's Hospital, Genova, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.affiliation: Dipartimento di Oncoematologia Pediatrica, Università di Padova, Padova, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Pillon
keywords: Anemia; Mitochondrial disorders; Pearson syndrome