Abstract
BackgroundTrisomy 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.Case presentationHere, 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.ConclusionsWe highlight the challenges and the process of thinking about of the diagnosis. This may provide a new idea for the diagnosis of intestinal ulcers.
Highlights
Trisomy 8 positivity myelodysplastic syndrome with Behçet’s disease is rare
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
Isolated trisomy 8 is one of the most frequent cytogenetic abnormalities in Myelodysplastic syndrome (MDS) which presents in 10–15% of MDS/ myeloproliferative neoplasm (MPN) cases [1]
Summary
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.Case presentation: Here, we reported a 63‐year‐old man, who presented with fever, abdominal pain and hematochezia. Department of Gastroenterology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, Zhejiang Province, China Full list of author information is available at the end of the article karyotype. It is regrettable that the characteristics of trisomy 8 positivity MDS are poorly reported. Some evidence shown an association between MDS, trisomy 8 and Behçet’s-like disease [2]. We describe a case of trisomy 8 positivity MDS with GI BD and provide the diagnose and treatment ideas.
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