CC BY-NC-ND 4.0 · Asian J Neurosurg 2019; 14(01): 240-244
DOI: 10.4103/ajns.AJNS_243_17
Case Report

Progressive multifocal leukoencephalopathy diagnosed by brain biopsy, not by the DNA test for JC Virus

Seung-yoon Lee
1   Department of Neurosurgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul
,
Hak-cheol Ko
1   Department of Neurosurgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul
,
Sang-il Kim
2   Department of Infectious Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul
,
Youn Lee
3   Department of Hospital Pathology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul
,
Byung-chul Son
1   Department of Neurosurgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul
4   Catholic Neuroscience Institute, College of Medicine, The Catholic University of Korea, Seoul
› Institutsangaben

Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease of the central nervous system caused by a lytic infection of oligodendrocytes due to the presence of JC polyomavirus (JCV). The disease occurs mostly in immunocompromised patients and is associated with a high mortality rate. The diagnosis of PML is based on a polymerase chain reaction (PCR) assay for JC viral DNA in cerebrospinal fluid (CSF). However, case reports of the diagnosis of PML established with brain biopsy despite negative JCV CSF PCR analysis when clinical and neuroimaging features are suggestive of PML have been published. A 44-year-old male with a 6-year history of acquired immunodeficiency syndrome developed mental confusion and memory impairment despite 3 months of highly active antiretroviral therapy. Magnetic resonance imaging revealed multiple subcortical white matter lesions in bilateral hemispheres and subcortical nuclei including the thalamus and basal ganglia. JCV DNA was not detected in CSF study, but a brain biopsy showed a high JCV DNA titer. The diagnosis of PML was established with brain biopsy. An early brain biopsy may be important in the diagnosis of PML in patients with clinical manifestations and neuroimaging findings if JCV DNA is undetectable in the CSF PCR.

Financial support and sponsorship

Nil.




Publikationsverlauf

Artikel online veröffentlicht:
09. September 2022

© 2019. Asian Congress of Neurological Surgeons. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

Thieme Medical and Scientific Publishers Pvt. Ltd.
A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

 
  • References

  • 1 Tan CS, Koralnik IJ. Progressive multifocal leukoencephalopathy and other disorders caused by JC virus: Clinical features and pathogenesis. Lancet Neurol 2010;9:425-37.
  • 2 Padgett BL, Walker DL, ZuRhein GM, Eckroade RJ, Dessel BH. Cultivation of papova-like virus from human brain with progressive multifocal leucoencephalopathy. Lancet 1971;1:1257-60.
  • 3 Van Assche G, Van Ranst M, Sciot R, Dubois B, Vermeire S, Noman M, et al. Progressive multifocal leukoencephalopathy after natalizumab therapy for Crohn's disease. N Engl J Med 2005;353:362-8.
  • 4 Carson KR, Evens AM, Richey EA, Habermann TM, Focosi D, Seymour JF, et al. Progressive multifocal leukoencephalopathy after rituximab therapy in HIV-negative patients: A report of 57 cases from the research on adverse drug events and reports project. Blood 2009;113:4834-40.
  • 5 Korman BD, Tyler KL, Korman NJ. Progressive multifocal leukoencephalopathy, efalizumab, and immunosuppression: A cautionary tale for dermatologists. Arch Dermatol 2009;145:937-42.
  • 6 Berger JR, Aksamit AJ, Clifford DB, Davis L, Koralnik IJ, Sejvar JJ, et al. PML diagnostic criteria: Consensus statement from the AAN neuroinfectious disease section. Neurology 2013;80:1430-8.
  • 7 Amend KL, Turnbull B, Foskett N, Napalkov P, Kurth T, Seeger J, et al. Incidence of progressive multifocal leukoencephalopathy in patients without HIV. Neurology 2010;75:1326-32.
  • 8 Kuhle J, Gosert R, Bühler R, Derfuss T, Sutter R, Yaldizli O, et al. Management and outcome of CSF-JC virus PCR-negative PML in a natalizumab-treated patient with MS. Neurology 2011;77:2010-6.
  • 9 Landry ML, Eid T, Bannykh S, Major E. False negative PCR despite high levels of JC virus DNA in spinal fluid: Implications for diagnostic testing. J Clin Virol 2008;43:247-9.
  • 10 Babi MA, Pendlebury W, Braff S, Waheed W. JC virus PCR detection is not infallible: A fulminant case of progressive multifocal leukoencephalopathy with false-negative cerebrospinal fluid studies despite progressive clinical course and radiological findings. Case Rep Neurol Med 2015;2015:643216.
  • 11 Ikeda J, Matsushima A, Ishii W, Goto T, Takahashi K, Nakamichi K, et al. Brain biopsy is more reliable than the DNA test for JC virus in cerebrospinal fluid for the diagnosis of progressive multifocal leukoencephalopathy. Intern Med 2017;56:1231-4.
  • 12 Weissert R. Progressive multifocal leukoencephalopathy. J Neuroimmunol 2011;231:73-7.
  • 13 Misbah SA. Progressive multi-focal leucoencephalopathy-driven from rarity to clinical mainstream by iatrogenic immunodeficiency. Clin Exp Immunol 2017;188:342-52.
  • 14 Cinque P, Koralnik IJ, Clifford DB. The evolving face of human immunodeficiency virus-related progressive multifocal leukoencephalopathy: Defining a consensus terminology. J Neurovirol 2003;9 Suppl 1:88-92.
  • 15 Mizusawa H, Kishida S, Saijo M, Yukishita M, Shishido-Hara Y, Sawa H, et al. Progressive multifocal leukoencephalopathy (PML). Clin Neurol 2011;51:1051-7.
  • 16 Marshall LJ, Major EO. Molecular regulation of JC virus tropism: Insights into potential therapeutic targets for progressive multifocal leukoencephalopathy. J Neuroimmune Pharmacol 2010;5:404-17.