Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing

By M. Wilson, S. Naccache, Erik Samayoa, Mark J Biagtan, Hiba Bashir, Guixia Yu, S. Salamat, S. Somasekar, S. Federman, Steve Miller and 12 more. New England Journal of Medicine, 2014

824 citations recorded by the source corpus.

SUMMARY 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.

Subfields: Parasitology

View Paper: https://www.semanticscholar.org/paper/bd1bc080f768764188cf3d49a6c4743900e5bd0c

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1. David A. Haake
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Citations in the corpus

• Leptospirosis in Humans (2015, positive): “However, whole genome sequencing has recently been applied to the diagnosis of neurological leptospirosis (Wilson et al. 2014) and it is probable that direct serovar identification will be possible in the near future, limited only by the quality of sequences obtained from specimens.”
• A cloud-compatible bioinformatics pipeline for ultrarapid pathogen identification from next-generation sequencing of clinical samples (2014, background): “The lower shaded panels are magnifications of the corresponding shaded boxed regions in the upper panels. speed of RAPSearch relative to BLASTx in aligning translated query reads to a viral protein database (viral protein DB).”
• Towards a genomics-informed, real-time, global pathogen surveillance system (2017, background): “Given the current high cost of the technique -conservatively estimated at several thousand dollars -it is most often used when dealing with potentially lethal infections that fail the conventional diagnostic paradigm, such as the recent diagnosis of an unusual case of meningoencephalitis caused by t”
• Understanding the Promises and Hurdles of Metagenomic Next-Generation Sequencing as a Diagnostic Tool for Infectious Diseases (2017, background): “Initial applications of mNGS for diagnostics focused on CNS infections, mostly chronic infections, and have successfully diagnosed rare [22], novel [43] and atypical infectious etiologies [23] of encephalitis.”
• Autoimmune Encephalitis Epidemiology and a comparison to Infectious Encephalitis (2018, result): “Infectious encephalitis may also be underrepresented because next generation sequencing for infectious agents was not available for this study.(27,28) The higher incidence and prevalence of autoimmune encephalitis among African Americans is consistent with our prior reports of their predisposition f”