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March 1968

Congenital Neutropenia: Report of a Fatal Case in a Negro Infant With Leukocyte Function Studies

Author Affiliations

Rochester, NY
From the departments of pediatrics (Dr. Miller) and pathology (Dr. Lapey and Miss Freed) University of Rochester School of Medicine and Dentistry and Strong Memorial Hospital, Rochester, NY. Dr. Lapey is now associated with Children's Hospital Medical Center, Boston.

Am J Dis Child. 1968;115(3):337-346. doi:10.1001/archpedi.1968.02100010339007

CONGENITAL neutropenia is a rare disease characterized by markedly decreased or absent peripheral blood neutrophils and totally depressed granulopoiesis beyond the promyelocyte-myelocyte stage. Erythropoiesis and megakaryocytes are normal. Eosinophilia, monocytosis, hypergammaglobulinemia, and recurrent infections are associated findings and death in early infancy is the usual outcome. Diffuse inflammatory reactions devoid of neutrophils and consisting predominantly of lymphocytes, plasma cells, and histiocytes are seen in postmortem tissues.

Although the classic family studies of Kostmann1 and the siblings described by Andrews et al2 suggest an autosomal recessive mode of inheritance, other single fetal cases3-8 have not demonstrated a familial predisposition. The first report of this syndrome in a Negro infant and the results of leukocyte function studies form the basis of this paper.

Report of a Case  A Negro girl (URMC-SMH 631912) was the product of a 30-year-old gravida 7, para 5, abortio 1 mother who was Rh positive

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