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Published on: December 28, 2017
Disseminated Histoplasmosis Infection Diagnosed by Metagenomic Next-Generation Sequencing: A Case Report
Lei Qiang1, Xianghui Deng1, Yong Yang1
1Department of Critical Care Medicine, The Affiliated Changsha Central Hospital, Hengyang Medical School, University of South China, Changsha, People's Republic of China.
Abstract:
Histoplasmosis is an endemic disease caused by Histoplasma capsulatum. This systemic disease can affect various organs beyond the lungs, such as the liver, spleen, adrenal gland, and lymph nodes. The clinical symptoms can range from asymptomatic to severe, life-threatening conditions, depending on the state of the patient's immune system. This report describes a 40-year-old male who presented with reports of weight loss, low back pain, and progressively worsening movement disorder of the bilateral lower extremities for months. Computed tomography (CT) examination showed multiple lytic lesions of vertebral bodies, bilateral ribs, and pelvic bone, histopathological examination and tumor-related serum markers exclude tumors. mNGS was employed to identify H. capsulatum var. capsulatum as the etiological agent of the lesions in the bone biopsy. Through phylogenetic tree analysis, Histoplasma capsulatum var. Capsulatum (Hcc) was the main responsible pathogen, rarely reported in bone lesions. The patient underwent spinal surgery and was successfully treated with liposomal amphotericin B and itraconazole. Based on the diagnosis and treatment of this case, we discuss the epidemiologic status, clinical presentations, diagnostic criteria, and treatment guidelines of histoplasmosis to provide additional information about this disease. mNGS is utilized in this case, and it appears to be a reliable method for early and accurate diagnosis of this disease.
Insights
This case report highlights a rare instance of disseminated histoplasmosis caused by Histoplasma capsulatum var. capsulatum presenting as bone lesions. Next-generation sequencing (mNGS) proved crucial for accurate diagnosis and timely treatment.
Area of Science:
- Mycology
- Infectious Diseases
- Medical Case Reports
Background:
- Histoplasmosis, caused by *Histoplasma capsulatum*, is an endemic systemic fungal infection.
- It commonly affects the lungs but can disseminate to other organs, including bone, particularly in immunocompromised individuals.
- Bone involvement in histoplasmosis is uncommon, making diagnosis challenging.
Observation:
- A 40-year-old male presented with weight loss, back pain, and lower extremity movement disorder.
- CT revealed multiple lytic bone lesions; tumor markers and histopathology were negative for malignancy.
- Metagenomic next-generation sequencing (mNGS) identified *Histoplasma capsulatum var. capsulatum* (Hcc) as the causative agent in bone biopsy.
Findings:
- Phylogenetic analysis confirmed *Hcc* as the pathogen responsible for the disseminated bone lesions.
- The patient received surgical intervention followed by treatment with liposomal amphotericin B and itraconazole.
- Successful treatment and recovery were achieved, underscoring the efficacy of combined therapeutic approaches.
Implications:
- This case emphasizes the importance of considering histoplasmosis in the differential diagnosis of osteolytic lesions, even in the absence of typical pulmonary symptoms.
- Metagenomic next-generation sequencing (mNGS) demonstrates significant value as a rapid and accurate diagnostic tool for identifying rare fungal pathogens like *Hcc* in bone infections.
- The findings contribute to understanding the clinical spectrum, diagnostic strategies, and management of disseminated histoplasmosis, particularly its rare bone manifestations.

