Congenital erythroid and myeloid hypoplasia terminating myelodysplastic syndrome.
We describe a 4-month-old infant girl with congenital erythroid and myeloid hypoplasia who developed myelodysplastic syndrome. Bone marrow examination showed severe erythroid and myeloid hypoplasia without dysplastic morphology. Flow cytometry detected autoantibodies to myeloid cells, indicating a diagnosis of Diamond-Blackfan anemia with autoimmune neutropenia. The patient was administered prednisolone and rituximab, which brought the neutrophil count and hemoglobin level to within the normal range. However, bicytopenia recurred at the age of 22 months. She was diagnosed with myelodysplastic syndrome because of trilineage dysplasia and the clonal abnormality of 46,XX,dup(1)(q21;q32) in bone marrow. She was transplanted with cord blood from an unrelated human leukocyte antigen-matched donor and has since remained in complete remission for 20 months.
Nishio
Nobuhiro
N
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Yagasaki
Hiroshi
H
Takahashi
Yoshiyuki
Y
Muramatsu
Hideki
H
Hama
Asahito
A
Xu
Yinyan
Y
Villalobos
Itzel Bustos
IB
Kojima
Seiji
S
D029503:Anemia, Diamond-Blackfan / Q000150:complications* / Q000175:diagnosis; D001323:Autoantibodies / Q000032:analysis; D001327:Autoimmune Diseases; D036101:Cord Blood Stem Cell Transplantation; D005260:Female; D006801:Humans; D007223:Infant; D009190:Myelodysplastic Syndromes / Q000209:etiology* / Q000628:therapy; D022423:Myeloid Cells / Q000276:immunology; D009503:Neutropenia / Q000276:immunology; D012074:Remission Induction
D001323:Autoantibodies