Xing Jiao, Xu Juan, Liu Zhi-Feng, Cheng Wei-Xia
Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing 210000, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2024;26(9):982-985. doi: 10.7499/j.issn.1008-8830.2405069.
The patient is a 12-year-old male who has experienced recurrent perianal abscesses for over 10 years, along with recurrent oral ulcers and deformities in the joints of hands and feet. Gastrointestinal endoscopy and capsule endoscopy revealed multiple ulcers in the digestive tract. Combined with his histopathological examinations, the patient was diagnosed with Crohn's disease. Whole exome sequencing and peripheral blood karyotype analysis indicated a karyotype of 47,XY,+8. The patient was treated with a "step-up" strategy. His clinical symptoms were under control, with significant improvement observed during endoscopic examination. This case suggests that early-onset inflammatory bowel disease may have genetic susceptibility, and when accompanied by other multi-system involvement, the possibility of chromosomal abnormalities, such as trisomy 8, should be considered and given due attention.
该患者为一名12岁男性，10多年来反复出现肛周脓肿，同时伴有复发性口腔溃疡和手足关节畸形。胃肠内镜检查和胶囊内镜检查发现消化道有多处溃疡。结合其组织病理学检查，该患者被诊断为克罗恩病。全外显子组测序和外周血核型分析显示核型为47,XY,+8。该患者采用“逐步升级”策略进行治疗。其临床症状得到控制，内镜检查时有显著改善。该病例提示，早发性炎症性肠病可能具有遗传易感性，当伴有其他多系统受累时，应考虑并充分关注染色体异常的可能性，如8三体。
