Congenital neutropenia in a newborn

J Perinatol. 2011 Apr:31 Suppl 1:S22-3. doi: 10.1038/jp.2010.166.


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.

Publication types

  • Case Reports

MeSH terms

  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Humans
  • Infant, Newborn
  • Leukocyte Elastase / genetics
  • Mutation
  • Neutropenia* / congenital
  • Neutropenia* / diagnosis
  • Neutropenia* / genetics


  • Leukocyte Elastase

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3