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.
Bernstein CN, Fried M, Krabshuis JH, et al. World Gastroenterology Organization Practice Guidelines for the diagnosis and management of IBD in 2010[J]. Inflamm Bowel Dis, 2010, 16(1): 112-124. PMID: 19653289. DOI: 10.1002/ibd.21048.
Wi?niewska M, Mazurek M. Trisomy 8 mosaicism syndrome[J]. J Appl Genet, 2002, 43(1): 115-118. PMID: 12084977.
Giraldo G, Gómez AM, Mora L, et al. Mosaic trisomy 8 detected by fibroblasts cultured of skin[J]. Colomb Med (Cali), 2016, 47(2): 100-104. PMID: 27546932. PMCID: PMC4975130.
Wesner N, Drevon L, Guedon A, et al. Gastrointestinal Behcet's-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review[J]. Leuk Lymphoma, 2019, 60(7): 1782-1788. PMID: 30457024. DOI: 10.1080/10428194.2018.1542152.
Navarro JT, Ribera JM, Mate JL, et al. Hepatosplenic T-gammadelta lymphoma in a patient with Crohn's disease treated with azathioprine[J]. Leuk Lymphoma, 2003, 44(3): 531-533. PMID: 12688327. DOI: 10.1080/1042819021000035662.
Chen G, Zeng W, Miyazato A, et al. Distinctive gene expression profiles of CD34 cells from patients with myelodysplastic syndrome characterized by specific chromosomal abnormalities[J]. Blood, 2004, 104(13): 4210-4218. PMID: 15315976. DOI: 10.1182/blood-2004-01-0103.
Okada E, Yamazaki M, Tanabe M, et al. IL-7 exacerbates chronic colitis with expansion of memory IL-7Rhigh CD4+ mucosal T cells in mice[J]. Am J Physiol Gastrointest Liver Physiol, 2005, 288(4): G745-G754. PMID: 15550560. DOI: 10.1152/ajpgi.00276.2004.
