case_images: PMC11368770_01
case_images: Karyotype of case 1: 47, XY+8[23]/46, XY[37].
case_images: fped-12-1431511-g001.jpg
case_images: PMC11368770_01_fped-12-1431511-g001.jpg
case_images: F1
case_images: To determine the etiology, karyotype analysis was performed, and the patient was diagnosed with a duplication of chromosome 8 (Figure 1).
case_images: Gastrointestinal endoscopy in case 1 showed no abnormality.
case_images: fped-12-1431511-g002.jpg
case_images: PMC11368770_01_fped-12-1431511-g002.jpg
case_images: F2
case_images: In March 2023, the patient was readmitted for further investigation via gastrointestinal endoscopy (Figure 2) and bone marrow aspiration, both of which revealed no abnormalities.
case_images: PMC11368770_02
case_images: LEFT: gastrointestinal endoscopy in case 2 before treatment showed multiple ulcers throughout the distal ileum, ileocecal part, and colon. RIGHT: gastrointestinal endoscopy in case 2 after treatment showed multiple intestinal ulcers have recovered.
case_images: fped-12-1431511-g003.jpg
case_images: PMC11368770_02_fped-12-1431511-g003.jpg
case_images: F3
case_images: In April 2021, a 7-year-old boy who presented to our hospital with "recurrent oral ulcers and fever for 5 years" and who was newly diagnosed with incomplete BD was diagnosed with fever and multiple refractory ulcers in the mouth, ileum, cecum, transverse colon, descending colon, and perianal region (Figure 3). After 4 months and 2 years of drug treatment, the patient was re-examined via gastroenteroscopy, and no intestinal ulcers were observed in either examination (Figure 3).
case_images: Karyotype of case 2: 47, XY+ 8[50]/46,XY[10].
case_images: fped-12-1431511-g004.jpg
case_images: PMC11368770_02_fped-12-1431511-g004.jpg
case_images: F4
case_images: In June 2021, chromosome karyotype analysis revealed a duplication on chromosome 8 and a mutation in the CYBB gene (Figure 4).