title: Pearson syndrome in the neonatal period: two case reports and review of the literature.
abstract: Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.
authors.affiliation: AP-HP, Hôpital Armand Trousseau, Department of Pediatric Hematology Oncology and Université Pierre et Marie Curie, Paris, France.
authors.forename: Elena Maria
authors.initials: EM
authors.lastname: Manea
authors.forename: Guy
authors.initials: G
authors.lastname: Leverger
authors.forename: Francoise
authors.initials: F
authors.lastname: Bellmann
authors.forename: Popp Alina
authors.initials: PA
authors.lastname: Stanescu
authors.forename: Adam
authors.initials: A
authors.lastname: Mircea
authors.forename: Anne-Sophie
authors.initials: AS
authors.lastname: Lèbre
authors.forename: Agnes
authors.initials: A
authors.lastname: Rötig
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000380:Agranulocytosis / Q000175:diagnosis* / Q000235:genetics; D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000235:genetics; D000748:Anemia, Macrocytic / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D010085:Oxidative Phosphorylation; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial