Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 16, 2023; 11(26): 6206-6212
Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6206
Severe inflammatory disorder in trisomy 8 without myelodysplastic syndrome and response to methylprednisolone: A case report
Fei-Yan Pan, Hao-Zhe Fan, Shun-Hong Zhuang, Li-Fei Pan, Xiang-Hong Ye, Hong-Jie Tong
Fei-Yan Pan, Hao-Zhe Fan, Li-Fei Pan, Hong-Jie Tong, Intensive Care Medicine, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua 321000, Zhejiang Province, China
Shun-Hong Zhuang, Department of Clinical Laboratory, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua 321000, Zhejiang Province, China
Xiang-Hong Ye, Administration Division, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua 321000, Zhejiang Province, China
Author contributions: Pan FY and Fan HZ were the patient’s intensive care physicians, they also collected the material and contributed to manuscript drafting; Tong HJ was the intensive care physicians, he reviewed the literature and contributed to manuscript drafting; Zhuang SH contributed to the bone marrow puncture report interpreting; Pan LF and Ye XH were the patient’s nurse, they also contributed to data collection; All authors have read and approved the final version of the manuscript.
Supported by Major Project of Jinhua Science and Technology Bureaun, No. 2021-3-025.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Hong-Jie Tong, MD, Attending Doctor, Intensive Care Medicine, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, No. 365 East Renmin Road, Jinhua 321000, Zhejiang Province, China. 444370182@qq.com
Received: May 6, 2023
Peer-review started: May 6, 2023
First decision: August 4, 2023
Revised: August 17, 2023
Accepted: August 23, 2023
Article in press: August 23, 2023
Published online: September 16, 2023
Processing time: 124 Days and 10.1 Hours
Abstract
BACKGROUND

Patients with trisomy 8 consistently present with myeloid neoplasms and/or auto-inflammatory syndrome. A possible link between myelodysplastic syndromes (MDS) with trisomy 8 (+8-MDS) and inflammatory disorders is well recognized, several cases having been reported. However, inflammatory disorders in patients without MDS have been largely overlooked. Generally, Behçet's disease is the most common type in +8-MDS. However, inflammatory disorders with pulmonary involvement are less frequent, and no effective treatment has been established.

CASE SUMMARY

A 27-year-old man with recurrent fever, fatigue for > 2 mo, and unconsciousness for 1 day was admitted to our emergency department with a provisional diagnosis of severe pneumonia. Vancomycin and imipenem were administered and sputum collected for metagenomic next-generation sequencing. Epstein–Barr virus and Mycobacterium kansasii were detected. Additionally, chromosomal analysis showed duplications on chromosome 8. Two days later, repeat metagenomic next-generation sequencing was performed with blood culture. Cordyceps portugal, M. kansasii, and Candida portugal were detected, and duplications on chromosome 8 confirmed. Suspecting hematological disease, we aspirated a bone marrow sample from the iliac spine, examination of which showed evidence of infection. We added fluconazole as further antibiotic therapy. Seven days later, the patient’s condition had not improved, prompting addition of methylprednisolone as an anti-inflammatory agent. Fortunately, this treatment was effective and the patient eventually recovered.

CONCLUSION

Severe inflammatory disorders with pulmonary involvement can occur in patients with trisomy 8. Methylprednisolone may be an effective treatment.

Keywords: Auto-inflammatory disorder; Inflammatory disorder; Methylprednisolone; Myelodysplastic syndromes; Trisomy 8; Case report

Core Tip: Trisomy 8 patients without myelodysplastic syndrome consistently present with auto-inflammatory syndrome, the gastrointestinal tract being the most commonly affected site. Because initial presentations with severe pneumonia are less common in trisomy 8 patients, there is limited experience on treating this. We treated a 27-year-old patient with trisomy 8 who was diagnosed with severe pneumonia and responded to methylprednisolone. The patient was eventually discharged in good clinical condition. This case shows that, in trisomy 8 patients, severe inflammatory disorders with pulmonary involvement can occur before progression to hematological malignancies. Steroids may play an important role in treating these patients.