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Congenital neutropenia in a newborn

Journal of Perinatology volume 31, pages S22–S23 (2011)Cite this article

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Abstract

Severe congenital neutropenia (SCN) is a genetically heterogenous, 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.

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  1. Department of Pediatrics and Communicable Disease, University of Michigan, Ann Arbor, MI, USA

    K Walkovich & L A Boxer

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  1. K Walkovich
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  2. L A Boxer
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Correspondence to L A Boxer.

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Competing interests

Dr Walkovich has received support from the NIH Loan Repayment Program. Dr Boxer owns Amgen stock.

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Walkovich, K., Boxer, L. Congenital neutropenia in a newborn. J Perinatol 31 (Suppl 1), S22–S23 (2011). https://doi.org/10.1038/jp.2010.166

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