Actionable Diagnosis of Neuroleptospirosis by Next-Generation SequencingWilson, Naccache, Samayoa, Biagtan, Bashir, Yu, Salamat, Somasekar, Federman, Miller, Sokolic, Garabedian, Candotti, Buckley, Reed, Meyer, Seroogy, Galloway, Henderson, Gern, DeRisi, Chiu
NEJM, 2014Abstract: 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 nextgeneration
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.
