Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 16, 2021; 9(32): 9903-9910
Published online Nov 16, 2021. doi: 10.12998/wjcc.v9.i32.9903
Next-generation sequencing technology for diagnosis and efficacy evaluation of a patient with visceral leishmaniasis: A case report
Zhou-Ning Lin, Yong-Cheng Sun, Jia-Ping Wang, Yan-Li Lai, Li-Xia Sheng
Zhou-Ning Lin, Internal Medicine, School of Medicine Ningbo University, Ningbo 315000, Zhejiang Province, China
Yong-Cheng Sun, Jia-Ping Wang, Yan-Li Lai, Li-Xia Sheng, Department of Hematology, Ningbo First Hospital, Ningbo 315000, Zhejiang Province, China
Author contributions: Lin ZN reviewed the literature and contributed to the manuscript drafting; Sun YC, Wang JP and Lai YL collected the clinical data and reviewed the literature; Sheng LX reviewed the manuscript; all authors issued approval of the final version.
Supported by National Nature Science Foundation of China, No. 81401321; Basic Public Welfare Research Project of Zhejiang Province, No. LGF19H080002; Science Research Project of Medicine and Hygiene of Zhejiang Province, No. 2018PY052; Public Welfare Science and Technology Project of Ningbo, No. 2019C50068.
Informed consent statement: Informed consent was obtained from the patient.
Conflict-of-interest statement: The authors declare that they have no conflicts 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Xia Sheng, PhD, Chief Doctor, Department of Hematology, Ningbo First Hospital, No. 59, Liuting Street, Haishu District, Ningbo 315000, Zhejiang Province, China. slx800408@163.com
Received: June 6, 2021
Peer-review started: June 6, 2021
First decision: June 25, 2021
Revised: July 9, 2021
Accepted: September 15, 2021
Article in press: September 15, 2021
Published online: November 16, 2021
Abstract
BACKGROUND

Visceral leishmaniasis (VL) is a parasitic disease caused by Leishmania and transmitted by infected sand flies. VL has a low incidence in China, and its clinical presentation is complex and atypical. This disease is easily misdiagnosed and can become life-threatening within a short period of time. Therefore, early, rapid and accurate diagnosis and treatment of the disease are essential.

CASE SUMMARY

A 25-year-old male patient presented with the clinical manifestations of irregular fever, hepatosplenomegaly, increased polyclonal globulin, and pancytopenia. The first bone marrow puncture biopsy did not provide a clear diagnosis. In order to relieve the pressure and discomfort of the organs caused by the enlarged spleen and to confirm the diagnosis, splenectomy was performed, and hemophagocytic syndrome was diagnosed by pathological examination of the spleen biopsy. Following bone marrow and spleen pathological re-diagnosis and metagenomic next-generation sequencing (mNGS) technology detection, the patient was finally diagnosed with VL. After treatment with liposomal amphotericin B, the body temperature quickly returned to normal and the hemocytes recovered gradually. Post-treatment re-examination of the bone marrow puncture and mNGS data showed that Leishmania was not detected.

CONCLUSION

As a fast and accurate detection method, mNGS can diagnose and evaluate the efficacy of treatment in suspicious cases of leishmaniasis.

Keywords: Visceral leishmaniasis, Kala-azar, Next-generation sequencing, Hemophagocytic lymphohistiocytosis, Diagnosis, Case report

Core Tip: Visceral leishmaniasis (VL) is an easily overlooked parasitic disease because of its low incidence and atypical clinical manifestations. Here, we report a case of imported VL. Initially, no Leishmania was found in the bone marrow or by spleen biopsy. Leishmania was finally confirmed by metagenomic next-generation sequencing (mNGS) analysis of peripheral blood. Finally, after treatment with amphotericin B, the patient recovered well, and various indicators gradually returned to normal during the follow-up period. As a rapid and accurate detection method, mNGS can be used as an alternative method to diagnose and evaluate suspicious cases.