Diagnosing Balamuthia mandrillaris Encephalitis With Metagenomic Deep Sequencing. Issue 5 (24th August 2015)

• Record Type: Journal Article
• Authors: Wilson, Michael R.; Shanbhag, Niraj M.; Reid, Michael J.; Singhal, Neel S.; Gelfand, Jeffrey M.; Sample, Hannah A.; Benkli, Barlas; O'Donovan, Brian D.; Ali, Ibne K.M.; Keating, M. Kelly; Dunnebacke, Thelma H.; Wood, Matthew D.; Bollen, Andrew; DeRisi, Joseph L.
• Is Part Of: Annals of neurology. Volume 78:Issue 5(2015:Nov.)
• Page Start: 722
• Page End: 730
• Publication Date: 2015-08-24
• Subjects: Neurology -- Periodicals; Pediatric neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; 616.8
• DOI: 10.1002/ana.24499
• Languages: English
• ISSNs: 0364-5134

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ana24499-sec-0001" sec-type="section"> <title>Objective</title> <p>Identification of a particular cause of meningoencephalitis can be challenging owing to the myriad bacteria, viruses, fungi, and parasites that can produce overlapping clinical phenotypes, frequently delaying diagnosis and therapy. Metagenomic deep sequencing (MDS) approaches to infectious disease diagnostics are known for their ability to identify unusual or novel viruses and thus are well suited for investigating possible etiologies of meningoencephalitis.</p> </sec> <sec id="ana24499-sec-0002" sec-type="section"> <title>Methods</title> <p>We present the case of a 74‐year‐old woman with endophthalmitis followed by meningoencephalitis. MDS of her cerebrospinal fluid (CSF) was performed to identify an infectious agent.</p> </sec> <sec id="ana24499-sec-0003" sec-type="section"> <title>Results</title> <p>Sequences aligning to <italic>Balamuthia mandrillaris</italic> ribosomal RNA genes were identified in the CSF by MDS. Polymerase chain reaction subsequently confirmed the presence of <italic>B. mandrillaris</italic> in CSF, brain tissue, and vitreous fluid from the patient's infected eye. <italic>B. mandrillaris</italic> serology and immunohistochemistry for free‐living amoebas on the brain biopsy tissue were positive.</p> </sec> <sec id="ana24499-sec-0004" sec-type="section"> <title>Interpretation</title> <p>The diagnosis was made using MDS after the patient had been hospitalized for several weeks and subjected to costly and invasive testing. MDS is a powerful diagnostic tool with the potential for rapid and unbiased pathogen identification leading to early therapeutic targeting. Ann Neurol 2015;78:Ann Neurol 2015;78:679–696</p> </sec> </abstract>