Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

作者：Wilson, Michael R.; Naccache, Samia N.; Samayoa, Erik; Biagtan, Mark; Bashir, Hiba; Yu, Guixia; Salamat, Shahriar M.; Somasekar, Sneha; Federman, Scot; Miller, Steve; Sokolic, Robert; Garabedian, Elizabeth; Candotti, Fabio; Buckley, Rebecca H.; Reed, Kurt D.; Meyer, Teresa L.; Seroogy, Christine M.; Galloway, Renee; Henderson, Sheryl L.; Gern, James E.; DeRisi, Joseph L.; Chiu, Charles Y.^*

来源：New England Journal of Medicine, 2014, 370(25): 2408-2417.

DOI：10.1056/NEJMoa1401268

• TRIATHLON PARTICIPANTS
• PATHOGEN DISCOVERY
• LEPTOSPIROSIS
• ENCEPHALITIS
• OUTBREAK
• GENOME
• ETIOLOGIES
• EXPERIENCE
• CHALLENGE
• PCR

A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma. Diagnostic workup including brain biopsy was unrevealing. Unbiased next-generation sequencing of the cerebrospinal fluid identified 475 of 3,063,784 sequence reads (0.016%) corresponding to leptospira infection. Clinical assays for leptospirosis were negative. Targeted antimicrobial agents were administered, and the patient was discharged home 32 days later with a status close to his premorbid condition. Polymerase-chain-reaction (PCR) and serologic testing at the Centers for Disease Control and Prevention (CDC) subsequently confirmed evidence of Leptospira santarosai infection.

• 出版日期2014-6-19