%0 Journal Article
%T Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia
%A Aziz Eghbali
%A Peyman Eshghi
%A Fatemeh Malek
%A Nima Rezaei
%J Iranian Journal of Pediatrics
%D 2010
%I Tehran University of Medical Sciences
%X Background:G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. Case Presentation:In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/¦Ěl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF) administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations. Conclusion:Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.
%K Severe Congenital Neutropenia
%K G6PC3
%K Mutation
%K Cardiac Malformation
%K Renal Malformation
%U http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/15633.pdf&manuscript_id=15633