Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report
Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease triggered by the reactivation of JC virus (JCV) in individuals with immunodeficiency, particularly those with untreated human immunodeficiency virus (HIV) infection. This case report describes a 46-year-old HIV-positiv...
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Elsevier
2025-01-01
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214250925000848 |
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| author | Kenji Nakano Akira Kawashima Takato Nakamoto Kazuo Nakamichi Ryo Kuwata Seitaro Abe Eri Inoue Naokatsu Ando Haruka Uemura Daisuke Mizushima Takahiro Aoki Katsuji Teruya Hiroyuki Gatanaga |
| author_facet | Kenji Nakano Akira Kawashima Takato Nakamoto Kazuo Nakamichi Ryo Kuwata Seitaro Abe Eri Inoue Naokatsu Ando Haruka Uemura Daisuke Mizushima Takahiro Aoki Katsuji Teruya Hiroyuki Gatanaga |
| author_sort | Kenji Nakano |
| collection | DOAJ |
| description | Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease triggered by the reactivation of JC virus (JCV) in individuals with immunodeficiency, particularly those with untreated human immunodeficiency virus (HIV) infection. This case report describes a 46-year-old HIV-positive man who initially presented with neurological symptoms and was incorrectly diagnosed as cerebral infarction. Although standard real-time polymerase chain reaction (PCR) testing for JCV in cerebrospinal fluid (CSF) at a commercial laboratory was negative, neuroimaging and clinical suspicion prompted ultrasensitive PCR testing at a national laboratory. This test detected a low viral load of JCV (28 copies/mL), confirming the diagnosis of PML. The patient underwent treatment with antiretroviral therapy and corticosteroids to prevent immune reconstitution inflammatory syndrome; however, his neurological symptoms persisted. This case highlights the importance of ultrasensitive CSF JCV testing for early PML diagnosis when standard PCR tests are inconclusive, particularly in HIV patients with atypically low JCV levels. It also highlights the diagnostic challenges of PML and emphasizes the clinical value of advanced PCR techniques for timely and accurate diagnosis in similar cases. |
| format | Article |
| id | doaj-art-7ee1d72f15af446d882f8338eb17f679 |
| institution | DOAJ |
| issn | 2214-2509 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | IDCases |
| spelling | doaj-art-7ee1d72f15af446d882f8338eb17f6792025-08-20T03:11:04ZengElsevierIDCases2214-25092025-01-0140e0222910.1016/j.idcr.2025.e02229Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case reportKenji Nakano0Akira Kawashima1Takato Nakamoto2Kazuo Nakamichi3Ryo Kuwata4Seitaro Abe5Eri Inoue6Naokatsu Ando7Haruka Uemura8Daisuke Mizushima9Takahiro Aoki10Katsuji Teruya11Hiroyuki Gatanaga12AIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan; The Joint Research Center for Human Retrovirus Infection, Kumamoto University, Kumamoto, Japan; Correspondence to: AIDS Clinical Center, National Center for Global Health and Medicine, 1-21-1 Toyama, Shinjuku-ku, Tokyo, Japan.AIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan; The Joint Research Center for Human Retrovirus Infection, Kumamoto University, Kumamoto, JapanDepartment of Virology 1, National Institute of Infectious Diseases, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan; The Joint Research Center for Human Retrovirus Infection, Kumamoto University, Kumamoto, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, JapanAIDS Clinical Center, National Center for Global Health and Medicine, Shinjuku-ku, Tokyo, Japan; The Joint Research Center for Human Retrovirus Infection, Kumamoto University, Kumamoto, JapanProgressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease triggered by the reactivation of JC virus (JCV) in individuals with immunodeficiency, particularly those with untreated human immunodeficiency virus (HIV) infection. This case report describes a 46-year-old HIV-positive man who initially presented with neurological symptoms and was incorrectly diagnosed as cerebral infarction. Although standard real-time polymerase chain reaction (PCR) testing for JCV in cerebrospinal fluid (CSF) at a commercial laboratory was negative, neuroimaging and clinical suspicion prompted ultrasensitive PCR testing at a national laboratory. This test detected a low viral load of JCV (28 copies/mL), confirming the diagnosis of PML. The patient underwent treatment with antiretroviral therapy and corticosteroids to prevent immune reconstitution inflammatory syndrome; however, his neurological symptoms persisted. This case highlights the importance of ultrasensitive CSF JCV testing for early PML diagnosis when standard PCR tests are inconclusive, particularly in HIV patients with atypically low JCV levels. It also highlights the diagnostic challenges of PML and emphasizes the clinical value of advanced PCR techniques for timely and accurate diagnosis in similar cases.http://www.sciencedirect.com/science/article/pii/S2214250925000848Human immunodeficiency virusProgressive multifocal leukoencephalopathyUltrasensitive polymerase chain reaction |
| spellingShingle | Kenji Nakano Akira Kawashima Takato Nakamoto Kazuo Nakamichi Ryo Kuwata Seitaro Abe Eri Inoue Naokatsu Ando Haruka Uemura Daisuke Mizushima Takahiro Aoki Katsuji Teruya Hiroyuki Gatanaga Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report IDCases Human immunodeficiency virus Progressive multifocal leukoencephalopathy Ultrasensitive polymerase chain reaction |
| title | Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report |
| title_full | Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report |
| title_fullStr | Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report |
| title_full_unstemmed | Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report |
| title_short | Early diagnosis of progressive multifocal leukoencephalopathy in untreated HIV infection via ultrasensitive PCR testing for JC virus: A case report |
| title_sort | early diagnosis of progressive multifocal leukoencephalopathy in untreated hiv infection via ultrasensitive pcr testing for jc virus a case report |
| topic | Human immunodeficiency virus Progressive multifocal leukoencephalopathy Ultrasensitive polymerase chain reaction |
| url | http://www.sciencedirect.com/science/article/pii/S2214250925000848 |
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