Actionable diagnosis of neuroleptospirosis by next-generation sequencing.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • June 19, 2014

Published In

Volume / Issue

  • 370 / 25

Start / End Page

  • 2408 - 2417

PubMed ID

  • 24896819

Pubmed Central ID

  • 24896819

Electronic International Standard Serial Number (EISSN)

  • 1533-4406

Digital Object Identifier (DOI)

  • 10.1056/NEJMoa1401268


  • eng

Conference Location

  • United States