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Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
Author(s) -
Michael R. Wilson,
Samia N. Naccache,
Erik Samayoa,
Mark Biagtan,
Hiba Bashir,
Guixia Yu,
Shahriar Salamat,
Sneha Somasekar,
Scot Federman,
Steve Miller,
Robert Sokolic,
Elizabeth Garabedian,
Fabio Candotti,
Rebecca H. Buckley,
Kurt D. Reed,
Teresa Meyer,
Christine M. Seroogy,
Renee L. Galloway,
Sheryl L. Henderson,
James E. Gern,
Joseph L. DeRisi,
Charles Y. Chiu
Publication year - 2014
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1401268
Subject(s) - medicine , leptospira , serology , status epilepticus , polymerase chain reaction , coma (optics) , leptospirosis , pediatrics , virology , immunology , epilepsy , antibody , biochemistry , chemistry , physics , psychiatry , optics , gene
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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