Department of Gastroenterology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, Zhejiang Province, China.
Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, Zhejiang Province, China.
BMC Gastroenterol. 2021 Oct 11;21(1):372. doi: 10.1186/s12876-021-01932-0.
Trisomy 8 positivity myelodysplastic syndrome with Behçet's disease is rare. Isolated trisomy 8 is a frequent cytogenetic abnormality in the MDS, but the characteristic of trisomy 8 and the association between trisomy 8 positivity myelodysplastic syndrome and Behçet's disease is unclear.
Here, we reported a 63-year-old man, who presented with fever, abdominal pain and hematochezia. Imaging studies revealed bowel wall thickening and mural hyperenhancement of terminal ileum and cecum. Colonoscopy found multiple round ulcers in terminal ileum, ileocecal valve and multiple yellow dotted pseudomembranous attachments throughout the colon. Capsule endoscopy also revealed multiple irregular ulcers in lower ileum. Serum C-reactive protein levels and fecal calprotectin were abnormally high. The clostridium difficile toxin A and B was positive. However, the patient's intestinal ulcers did not resolve after two weeks course of vancomycin. Considered that the patient was diagnosed as MDS-RAEB2 with a karyotype of 47 XX, + 8. And detailed inquiry of medical history revealed epifolliculitis and frequently recurrent oral ulcers 2 months before admission. A diagnosis of trisomy 8 positivity MDS with BD was made. Then he received glucocorticoid along with the 5th course of azacytidine. The follow-up endoscopy showed significantly improved intestinal ulcer 2 months after treatment. we report a rare disease and provide the diagnose and treatment ideas.
We highlight the challenges and the process of thinking about of the diagnosis. This may provide a new idea for the diagnosis of intestinal ulcers.
伴 Behcet 病的三体 8 阳性骨髓增生异常综合征较为罕见。孤立性三体 8 是 MDS 中常见的细胞遗传学异常，但三体 8 的特征和三体 8 阳性骨髓增生异常综合征与 Behcet 病之间的关联尚不清楚。
我们在此报告了 1 例 63 岁男性，因发热、腹痛和血便就诊。影像学研究显示回肠末端和盲肠肠壁增厚，壁强化。结肠镜检查发现回肠末端、回盲瓣和整个结肠有多个圆形溃疡。胶囊内镜还发现回肠下段有多个不规则溃疡。血清 C 反应蛋白和粪便钙卫蛋白水平异常升高。艰难梭菌毒素 A 和 B 阳性。然而，万古霉素治疗 2 周后，患者的肠道溃疡仍未缓解。考虑患者诊断为 MDS-RAEB2，核型为 47 XX， + 8。详细询问病史发现患者在入院前 2 个月有滤泡性毛囊炎和频繁复发性口腔溃疡。诊断为伴 Behcet 病的三体 8 阳性 MDS。随后他接受了糖皮质激素和第 5 个疗程的阿扎胞苷治疗。治疗 2 个月后随访内镜显示肠道溃疡明显改善。我们报告了 1 例罕见病例，并提供了诊断和治疗思路。
我们强调了诊断过程中的挑战和思维过程。这可能为肠道溃疡的诊断提供新的思路。
