Congenital dyserythropoietic anemia type 1 with fetal onset of severe anemia.
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.
Kato
K
K
Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan. p-cmck@gd5.so-net.ne.jp
Sugitani
M
M
Kawataki
M
M
Ohyama
M
M
Aida
N
N
Koga
N
N
Ijiri
R
R
Imaizumi
K
K
Kigasawa
H
H
Tanaka
Y
Y
Itani
Y
Y
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
D011994:Recombinant Proteins; D004921:Erythropoietin