Document Detail

Congenital neutropenia in a newborn.
MedLine Citation:
PMID:  21448199     Owner:  NLM     Status:  MEDLINE    
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.
K Walkovich; L A Boxer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  31 Suppl 1     ISSN:  1476-5543     ISO Abbreviation:  J Perinatol     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-30     Completed Date:  2011-07-13     Revised Date:  2011-12-06    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  S22-3     Citation Subset:  IM    
Department of Pediatrics and Communicable Disease, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5178, USA.
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MeSH Terms
Infant, Newborn
Leukocyte Elastase / genetics
Neutropenia* / congenital,  diagnosis,  genetics
Reg. No./Substance:
EC Elastase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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