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Actionable diagnosis of neuroleptospirosis by next-generation sequencing

  • Author(s): Wilson, MR
  • Naccache, SN
  • Samayoa, E
  • Biagtan, M
  • Bashir, H
  • Yu, G
  • Salamat, SM
  • Somasekar, S
  • Federman, S
  • Miller, S
  • Sokolic, R
  • Garabedian, E
  • Candotti, F
  • Buckley, RH
  • Reed, KD
  • Meyer, TL
  • Seroogy, CM
  • Galloway, R
  • Henderson, SL
  • Gern, JE
  • DeRisi, JL
  • Chiu, CY
  • 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. Copyright © 2014 Medical Society.

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