Background: G6PC3 deficiency is a new neutropenic syndrome, which is
characterized by severe persistent neutropenic, 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
neutropenic (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
