Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia.

Abstract

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/µl 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.

• Authors: Aziz Eghbali, Peyman Eshghi, Fatemeh Malek, Nima Rezaei
• Journal: Iranian journal of pediatrics (Iran J Pediatr) Vol. 20 Issue 2 Pg. 225-8 (Jun 2010) ISSN: 2008-2142 [Print] Netherlands
• PMID: 23056709 (Publication Type: Case Reports)