Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 370, Issue 25, Pages 2408-2417Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa1401268
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Funding
- American Brain Foundation
- National Human Genome Research Institute
- Howard Hughes Medical Institute
- National Institutes of Health [R01-HL105704]
- University of California
- Amazon Web Services in Education Research Grant
- Abbott Viral Discovery Award
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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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