title: [A regenerative anemia in infants: 2 cases of Pearson´s syndrome].
abstract: Anemia is very common in infants. Although its causes are usually not severe and treatable, proper etiologic diagnosis should be established. When anemia is non-regenerative, it can be caused by aplastic anemia, myelodysplastic syndrome, bone marrow infiltration or hematopoietic factors deficiencies. Another possible cause is Pearson's syndrome, a rare mitochondrial disease that causes non-regenerative anemia associated with other cytopenias, pancreatic insufficiency, lactic acidosis and great variability in clinical presentation conditioned by heteroplasmy. It is characteristic to find in bone marrow studies variable vacuolization in erythroblastic progenitors and ring sideroblasts. The diagnosis is established by genetic study of mitochondrial deoxyribonucleic acid performed by Southern blot analysis (complete mitochondrial deoxyribonucleic acid amplification by polymerase chain reaction -long), obtaining 70-80% deletion of 4977 bp (NMD 8343-13459). There is no curative therapy and support treatment is the only available nowadays. Death is frequent in early years of life.
authors.affiliation: Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España. chemi87@hotmail.com.
authors.forename: José M
authors.initials: JM
authors.lastname: Martínez de Zabarte Fernández
authors.affiliation: Unidad de Oncohematología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Rodríguez-Vigil Iturrate
authors.affiliation: Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: Cristina
authors.initials: C
authors.lastname: Martínez Faci
authors.affiliation: Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: García Jiménez
authors.affiliation: Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: Laura
authors.initials: L
authors.lastname: Murillo Sanjuan
authors.affiliation: Unidad de Oncohematología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: Ascensión
authors.initials: A
authors.lastname: Muñoz Mellado
mesh_terms: D000740:Anemia / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis*; D013577:Syndrome
keywords: Pearson syndrome; anemia; aregenerative anemia; genetic diseases inborn; infant