case_images: PMC9224403_01
case_images: (A) Abdominal CT showed irregular wall thickness and enhancement of ascending colon and terminal ileum wall; enlargement of abdominal lymph nodes (B) Colonoscopy detected multiple ulcers in the terminal ileum, colon; and scatter ulcers in the rectum. The ulcers had a sharp margin, and most had no exudate or edema, mainly located at ascending colon and cecum. (C) Histological study of the mucosal biopsy indicated segmental chronic active inflammation of the colon and terminal ileum. Cryptitis, crypt abscess and noncaseating granulomas was observed in the ileum and colon (D) Repeated colonoscopy showed remarkably improvement of intestinal inflammation. (E) A novel nonsense heterozygous mutation of c.934G>T (p.Glu312Ter) was identified in the MSN gene. The mutation of the proband was inherited from his mother. (F).
case_images: fgene-13-873635-g001.jpg
case_images: PMC9224403_01_fgene-13-873635-g001.jpg
case_images: F1
case_images: Abdominal computed tomography scan showed irregular wall thickness, enhancement of the ascending colon and terminal ileum wall, and enlargement of the abdominal lymph nodes (Figure 1A). There were also scattered ulcers located in the rectum ( Figure 1B). Histological study of a mucosal biopsy indicated segmental chronic active inflammation of the colon and terminal ileum, cryptitis and crypt abscess were observed at the colon; additionally, several noncaseating granulomas was observed in the ileum and descending colon (Figure 1C). Only small ulcers in the terminal ileum were observed, and the ulcers located in the colon had healed, leaving a scattering of small inflammatory polyps (Figure 1D).