Case Report: A rare adult case of ELANE-related severe congenital neutropenia revealed by neutropenic enterocolitis.

Severe congenital neutropenia (SCN) is a rare hematologic disorder characterized by recurrent and potentially life-threatening infections beginning in early childhood, associated with absolute neutrophil counts (ANCs) below 0.5×109/L. Mutations in the ELANE gene are the most prevalent cause of SCN. Gastrointestinal complications such as neutropenic enterocolitis (NE) are rarely reported as presenting manifestations of congenital neutropenia. Herein, we report an 18-year-old male with a lifelong history of recurrent oral ulcers, otitis, and skin infections, who presented with intermittent abdominal pain. Computed tomography demonstrated diffuse bowel wall thickening, and colonoscopy revealed a colonic stricture. Due to progressive obstructive symptoms, the patient underwent a laparoscopic right hemicolectomy. The preliminary histopathological analysis indicated a diagnosis of ulcerative colitis (UC). However, persistent severe neutropenia following surgery raised suspicion of an alternative underlying etiology. Subsequent whole-exome sequencing identified a heterozygous likely pathogenic variant in the ELANE gene, establishing the diagnosis of SCN. Retrospective clinicopathological reassessment indicated that the gastrointestinal manifestations were more consistent with NE secondary to chronic neutropenia, rather than primary inflammatory bowel disease. To our knowledge, this is among the first reported cases of ELANE-related SCN presenting predominantly as NE. This case expands the clinical spectrum of SCN and highlights the importance of considering congenital neutropenia in patients with unexplained gastrointestinal inflammation accompanied by persistent neutropenia, to avoid misdiagnosis and optimize management.