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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

2014; Massachusetts Medical Society; Volume: 370; Issue: 25 Linguagem: Inglês

10.1056/nejmoa1401268

1533-4406

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

Leptospirosis research and findings

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.