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N Engl J Med ; 370(25): 2408-17, 2014 Jun 19.
Article in English | MEDLINE | ID: mdl-24896819

ABSTRACT

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.


Subject(s)
Brain/pathology , Cerebrospinal Fluid/microbiology , DNA, Bacterial/analysis , Leptospira/genetics , Leptospirosis/diagnosis , Meningoencephalitis/diagnosis , Sequence Analysis, DNA/methods , Adenosine Deaminase/deficiency , Adolescent , Agammaglobulinemia/complications , Biopsy , Fever/etiology , Headache/etiology , Humans , Leptospira/isolation & purification , Leptospirosis/complications , Leptospirosis/microbiology , Male , Meningoencephalitis/complications , Meningoencephalitis/microbiology , Severe Combined Immunodeficiency/complications
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