Diagnosing Balamuthia mandrillaris encephalitis with metagenomic deep sequencing
Published Date:Aug 24 2015
Source:Ann Neurol. 78(5):722-730.
Pubmed Central ID:PMC4624031
Funding:KL2 TR000143/TR/NCATS NIH HHS/United States
T32 GM067547/GM/NIGMS NIH HHS/United States
R 01 NS 49577-6/NS/NINDS NIH HHS/United States
Howard Hughes Medical Institute/United States
CC999999/Intramural CDC HHS/United States
Identification of a particular cause of meningoencephalitis can be challenging due 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.
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.
Sequences aligning to Balamuthia mandrillaris ribosomal RNA genes were identified in the CSF via MDS. Polymerase chain reaction (PCR) subsequently confirmed the presence of B. mandrillaris in CSF, brain tissue, and vitreous fluid from the patient’s infected eye. B. mandrillaris serology and immunohistochemistry for free-living amoebas on the brain biopsy tissue were positive.
The diagnosis was made using MDS after the patient had been hospitalized for several weeks and subjected to costly and invasive testing. MDS a powerful diagnostic tool with the potential for rapid and unbiased pathogen identification leading to early therapeutic targeting.
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