title: Congenital neutropenia in a newborn.
abstract: Severe congenital neutropenia (SCN) is a genetically heterogeneous, rare disorder defined by a persistent absolute neutrophil count <500k mm(-3) with neutrophil maturation arrest at the promyelocyte stage and an increased risk for infection as well as a propensity towards developing myelodysplastic syndrome and acute myelogenous leukemia. We report a case of incidentally identified SCN in a full-term, otherwise healthy infant girl. Routine complete blood counts obtained for follow up of ABO incompatibility-induced jaundice and anemia identified mild neutropenia at birth followed by severe persistent neutropenia by 1 week of birth. Genetic testing confirmed the clinical suspicion of SCN with the identification of a mutation in the ELANE gene. Prompt identification and treatment of infants with SCN is critical to minimizing morbidity and mortality; as such, a diagnosis of SCN must be considered in all infants with neutropenia even in the absence of infection.
authors: Department of Pediatrics and Communicable Disease, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5178, USA. laboxer@umich.edu
authors: K
authors: K
authors: Walkovich
authors: L A
authors: LA
authors: Boxer
mesh_terms: D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D019272:Leukocyte Elastase / Q000235:genetics; D009154:Mutation; D009503:Neutropenia / Q000151:congenital / Q000175:diagnosis / Q000235:genetics
chemical_list: D019272:Leukocyte Elastase