Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

被引：775

作者：

Wilson, Michael R. ^{[1
,2
]}

Naccache, Samia N. ^{[3
,5
]}

Samayoa, Erik ^{[3
,5
]}

Biagtan, Mark ^{[6
]}

Bashir, Hiba ^{[6
]}

Yu, Guixia ^{[3
,5
]}

Salamat, Shahriar M. ^{[7
]}

Somasekar, Sneha ^{[3
,5
]}

Federman, Scot ^{[3
,5
]}

Miller, Steve ^{[3
,5
]}

Sokolic, Robert ^{[9
]}

Garabedian, Elizabeth ^{[9
]}

Candotti, Fabio ^{[9
]}

Buckley, Rebecca H. ^{[10
,11
]}

Reed, Kurt D. ^{[7
]}

Meyer, Teresa L. ^{[8
]}

Seroogy, Christine M. ^{[8
]}

Galloway, Renee ^{[12
]}

Henderson, Sheryl L. ^{[8
]}

Gern, James E. ^{[6
,8
]}

DeRisi, Joseph L. ^{[1
]}

Chiu, Charles Y. ^{[3
,4
,5
]}

机构：

[1] Univ Calif San Francisco, Dept Biochem & Biophys, San Francisco, CA 94107 USA

[2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94107 USA

[3] Univ Calif San Francisco, Dept Lab Med, San Francisco, CA 94107 USA

[4] Univ Calif San Francisco, Dept Med, Div Infect Dis, San Francisco, CA 94107 USA

[5] Univ Calif San Francisco, Abbott Viral Diagnost & Discovery Ctr, San Francisco, CA 94107 USA

[6] Univ Wisconsin, Dept Med, Div Allergy & Immunol, Madison, WI 53706 USA

[7] Univ Wisconsin, Dept Pathol & Lab Med, Madison, WI 53706 USA

[8] Univ Wisconsin, Dept Pediat, Madison, WI 53706 USA

[9] NCI, Expt Transplantat & Immunol Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

[10] Duke Univ, Dept Pediat, Div Allergy & Immunol, Durham, NC 27706 USA

[11] Duke Univ, Dept Immunol, Div Allergy & Immunol, Durham, NC USA

[12] Ctr Dis Control & Prevent, Atlanta, GA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2014年 / 370卷 / 25期

基金：

美国国家卫生研究院;

关键词：

TRIATHLON PARTICIPANTS; PATHOGEN DISCOVERY; LEPTOSPIROSIS; ENCEPHALITIS; OUTBREAK; GENOME; ETIOLOGIES; EXPERIENCE; CHALLENGE; PCR;

D O I：

10.1056/NEJMoa1401268

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：2408 / 2417

页数：10

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