title: Pearson's marrow-pancreas syndrome in 2 Turkish children.
abstract: Two unrelated infants, 1 female and 1 male, with Pearson's syndrome are presented. Both patients presented with severe macrocytic refractory anemia starting early in infancy. Investigation of the mitochondrial (mt), DNA showed that one of the patients had a 4,977 bp deletion, and the other had a 4.5 kb mtDNA deletion. It is concluded that Pearson's syndrome should be borne in mind in the differential diagnosis of refractory anemia especially when there are accompanying gastrointestinal disturbances and metabolic acidosis.
authors.affiliation: Department of Pediatrics, Hacettepe University Ankara, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: P
authors.initials: P
authors.lastname: Cemeroğlu
authors.forename: F
authors.initials: F
authors.lastname: Sarialioğlu
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D000753:Anemia, Refractory / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D000756:Anemia, Sideroblastic / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D001483:Base Sequence; D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010182:Pancreatic Diseases / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D013577:Syndrome; D014421:Turkey
chemical_list: D004272:DNA, Mitochondrial