01744nas a2200229   4500000000100000008004100001260001200042653001400054653001700068653001200085653004300097653002500140100001100165700001000176700001100186700001200197700001100209700001100220245011900231520115000350022001401500       2020                            d  c04/202010adiagnosis10aIn-house PCR10aleprosy10aMetagenomic next-generation sequencing10aMycobacterium leprae1 aQuan M1 aLiu L1 aZhou T1 aJiang Y1 aWang X1 aZong Z00aLeprosy in a low-incidence setting : Case report relevant to metagenomic next generation sequencing applications.3 a<p>Leprosy is a disease caused by Mycobacterium leprae that results in disability. In 2000 the World Health Organization announced that leprosy had been eradicated. In nonendemic areas diagnosing leprosy is becoming a challenge for inexperienced clinicians. This case involves a male patient suffering from chronic numbness, hand deformity and recurrent erythema. Skin biopsy revealed granuloma and acid-fast staining of short-rod bacteria. Peripheral venous blood was subjected to metagenomic next generation sequencing and bioinformatics analysis, which revealed 3 unique sequence reads of M. leprae. Paraffin-embedded tissue and fresh samples scraped from skin lesions were subjected to in-house PCR targeting 16S rRNA, hsp65, rpoB, rpoT, ribF-rpsO, and mmaA. Sanger sequencing of amplicons from fresh samples and paraffin-embedded tissue verified the presence of M. leprae. For inexperienced clinicians in nonendemic areas nucleic acid amplification tests, such as in-house PCR, are helpful for diagnosing leprosy but sequence reads from metagenomic next generation sequencing may also provide evidence when interpreted cautiously.</p>  a1613-7671