[A case report of Crohn's disease in a child with trisomy 8].

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.

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Publication Details

Journal
PubMed
Published
2024-09-13
DOI
https://doi.org/10.7499/j.issn.1008-8830.2405069
Citations
1
Primary Topic
Inflammatory Bowel Disease
Type
article
Field-Weighted Citation Impact
0.55
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article

[A case report of Crohn's disease in a child with trisomy 8].

Zhifeng Liu, Juan Xu, Weixia Cheng, J Xing
1 citations
PubMed
Inflammatory Bowel Disease
0.55
article

[A case report of Crohn's disease in a child with trisomy 8].

Zhifeng Liu, Juan Xu, Weixia Cheng, J Xing
article en
1 citations

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.

PubMedVol. 26(9)
Nanjing Children's Hospital (CN)
Openalex Percentile: Top 26%
Inflammatory Bowel Disease
0.55
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