title: [Pearson syndrome. Case report].
abstract: Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.
authors.affiliation: Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela. francocammarata19@gmail.com
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.forename: Ester
authors.initials: E
authors.lastname: López-Gallardo
authors.forename: Sonia
authors.initials: S
authors.lastname: Emperador
authors.forename: Eduardo
authors.initials: E
authors.lastname: Ruiz-Pesini
authors.forename: Gloria
authors.initials: G
authors.lastname: Da Silva
authors.forename: Nolis
authors.initials: N
authors.lastname: Camacho
authors.forename: Julio
authors.initials: J
authors.lastname: Montoya
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency; D000756:Anemia, Sideroblastic / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D000080984:Congenital Bone Marrow Failure Syndromes; D004272:DNA, Mitochondrial / Q000235:genetics; D003968:Diarrhea, Infantile / Q000209:etiology; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000209:etiology; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors; D028361:Mitochondrial Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D009135:Muscular Diseases; D010641:Phenotype; D012017:Referral and Consultation; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D004272:DNA, Mitochondrial; D044942:Acyl-CoA Dehydrogenase, Long-Chain