Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia

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.