A case study of delayed-diagnosed leprosy: advancing diagnosis through MetaPath

Leprosy, a chronic infectious disease caused by Mycobacterium leprae, can lead to sensory deficits, motor impairment, disability, and social stigma, imposing a dual physical and psychological burden on patients. Early diagnosis and standardized treatment are therefore crucial. Metagenomic Capture Technology for Pathology (MetaPath) is a probe-capture-based high-throughput sequencing technology for pathogen nucleic acids, which holds promise for the early detection of Mycobacterium leprae in pathological specimens.

A 78-year-old male presented with erythematous, scaly and pruritic plaques on his trunk and extremities for over six months, worsening in the last two months. Initial differential diagnoses, including dermatomyositis, psoriasis, and mycosis fungoides, were not confirmed by laboratory or histopathological examinations. Subsequent, MetaPath revealed the presence of Mycobacterium leprae. Further history-taking revealed a prior contact with a leprosy patient and similar, undiagnosed symptoms dating back 5 years. The patient was finally diagnosed with paucibacillary leprosy (borderline tuberculoid type). Following isolation, referral, and initiation of standardized multidrug therapy (rifampicin and dapsone), the patient entered a long-term follow-up phase.

MetaPath successfully detected Mycobacterium leprae, providing a definitive molecular etiological evidence for this long-term undiagnosed case. This demonstrates the key advantage of MetaPath in the early diagnosis of challenging infectious diseases.