A case report of Crohn's disease in a child with trisomy 8
10.7499/j.issn.1008-8830.2405069
- VernacularTitle:伴8号染色体三体的儿童克罗恩病1例报告
- Author:
Jiao XING
1
;
Juan XU
;
Zhi-Feng LIU
;
Wei-Xia CHENG
Author Information
1. 南京医科大学附属儿童医院消化科,江苏南京 210000
- Keywords:
Crohn's disease;
Trisomy 8;
Early-onset inflammatory bowel disease;
Perianal abscess;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(9):982-985
- CountryChina
- Language:Chinese
-
Abstract:
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.
