title: Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia.
abstract: We report a patient with congenital dyserythropoietic anemia type 1 with characteristic anomalies and two novel clinicopathologic presentations: intrauterine onset of severe anemia resulting in cardiac failure and relatively mild dyserythropoietic features on bone marrow aspiration in contrast to severity of anemia. After repeated transfusions and a trial of erythropoietin administration, the patient died from respiratory infection at age 7 months. Autopsy revealed characteristic dyserythropoietic features of the bone marrow by light microscopy and electron microscopy, which confirmed a diagnosis of congenital dyserythropoietic anemia type 1.
authors.affiliation: Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan. p-cmck@gd5.so-net.ne.jp
authors.forename: K
authors.initials: K
authors.lastname: Kato
authors.forename: M
authors.initials: M
authors.lastname: Sugitani
authors.forename: M
authors.initials: M
authors.lastname: Kawataki
authors.forename: M
authors.initials: M
authors.lastname: Ohyama
authors.forename: N
authors.initials: N
authors.lastname: Aida
authors.forename: N
authors.initials: N
authors.lastname: Koga
authors.forename: R
authors.initials: R
authors.lastname: Ijiri
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: H
authors.initials: H
authors.lastname: Kigasawa
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Itani
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis* / Q000196:embryology / Q000628:therapy; D001803:Blood Transfusion; D004900:Erythroblasts / Q000473:pathology / Q000648:ultrastructure; D004921:Erythropoietin / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011994:Recombinant Proteins
chemical_list: D011994:Recombinant Proteins; D004921:Erythropoietin