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Actionable diagnosis of neuroleptospirosis by next-generation sequencing.

  • Author(s): 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
  • et al.
Abstract

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.

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