Actionable diagnosis of neuroleptospirosis by next-generation sequencing.

Order of authorship in the original publication: Wilson, Naccache, Samayoa...Chiu. This research demonstrated the value of "next-generation-sequencing" in the diagnosis of a specific meningoencephalitis, a disease which can be caused by more than 100 different infectious agents.

"Summary: 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."

Digital facsimile from nejm.org at this link.

(Thanks to Juan Weiss for this reference and its interpretation.)