Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
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DOI：
10.1056/nejmoa1401268
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发表时间：
2014-06-19
期刊：
影响因子：
--
通讯作者：
Chiu CY
中科院分区：
文献类型：
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作者：
Wilson MR;Naccache SN;Samayoa E;Biagtan M;Bashir H;Yu G;Salamat SM;Somasekar S;Federman S;Miller S;Sokolic R;Garabedian E;Candotti F;Buckley RH;Reed KD;Meyer TL;Seroogy CM;Galloway R;Henderson SL;Gern JE;DeRisi JL;Chiu CY
一名患有严重联合免疫缺陷的 14 岁男孩在 4 个月内因发烧和头痛 3 次到医疗机构就诊，最后发展为脑积水和癫痫持续状态，需要药物诱导昏迷。包括脑活检在内的诊断检查并未得出结论。对脑脊液进行无偏倚的新一代测序，在 3,063,784 个序列读数中识别出 475 个序列读数 (0.016%) 对应于钩端螺旋体感染。钩端螺旋体病临床检测结果呈阴性。给予了靶向抗菌药物，32 天后患者出院回家，状态接近病前状况。美国疾病控制与预防中心 (CDC) 的聚合酶链反应 (PCR) 和血清学检测随后证实了圣塔罗赛钩端螺旋体感染的证据。
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.