All issues > Volume 37(1); 1994

Case Report

J Korean Pediatr Soc. 1994;37(1):99-103. Published online January 15, 1994.

A Case of Congenital Dyserythropoietic Anemia, Type II

Won Kyung WK Yang¹, Jung Wan JW Yoo¹, Hyung Goo HG Cho¹, Dong Chul DC Park¹, In Sung IS Lee², Won Yong WY Lee³

¹Department of Pediatrics, College of Medicine, Kon-Kuk University, Chung-Ju, Korea
²Department of Pathology, College of Medicine, Kon-Kuk University, Chung-Ju, Korea
³Department of Microbiology,Yonsei University College of Medicine, Seoul, Korea

Abstract

Congenital dyserythropoietic anemia Type II (herditary erythroblatic multinuclearity with positive acidfied serum test;HEMPAS) is characterized by binuclearity, multinuclearity, pluripolar mitoses, karyorrhexis of normoblasts, and the presence of abnormla antigens on the red cells. We experienced a case of HEMPAS in a 2 month old girl patient who had an intermittent fever, abdominal distention with palpable liver & spleen, and generalized jaundice. The blood analysis revealed anemia, and thrombocytopenia. Peripheral blood smear showed an averge of 6 mature normoblast per 100 leukocyte count. The red cells showed moderate anisocytosis, poikilocytosis, irregularly crenated, cntracted cells and occasional spherocytes. The leukocytes showed relative lymphocytosis, and there were occasional villous lymphocytes. The marrow smear showed abnormality in erythroid series. About ten percent of the erythroblasts showed 2~7 nuclei or lobulated nuclei. The mitotic forms of the erythroid precursors were also increased in frequency. The M:E ratio was 1:3.2. Blood culture on this patient showed a pure growth of Coxiella burnetti. Medical treatment with Doxycycline and Rifampin was performed. After treatment, she became afebrile showing improved general condition with decreased size of liver & spleen. In spite of clinical improvement, she died suddenly 3 weeks after initial treatment.

Keywords :Congenital dyserythropoietic anemia, Coxiella burnetti