Lee Seung-Yoon, Ko Hak-Cheol, Kim Sang-Il, Lee Youn Soo, Son Byung-Chul
Department of Neurosurgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Department of Infectious Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Asian J Neurosurg. 2019 Jan-Mar;14(1):240-244. doi: 10.4103/ajns.AJNS_243_17.
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.
进行性多灶性白质脑病（PML）是一种中枢神经系统脱髓鞘疾病，由JC多瘤病毒（JCV）感染少突胶质细胞导致细胞溶解引起。该疾病主要发生在免疫功能低下的患者中，且死亡率较高。PML的诊断基于对脑脊液（CSF）中JC病毒DNA的聚合酶链反应（PCR）检测。然而，已有病例报告表明，当临床和神经影像学特征提示为PML时，尽管JC病毒脑脊液PCR分析结果为阴性，但通过脑活检仍可确诊PML。一名44岁男性，有6年获得性免疫缺陷综合征病史，尽管接受了3个月的高效抗逆转录病毒治疗，仍出现精神错乱和记忆障碍。磁共振成像显示双侧半球及包括丘脑和基底神经节在内的皮质下核有多个皮质下白质病变。脑脊液检查未检测到JCV DNA，但脑活检显示JCV DNA滴度很高。通过脑活检确诊为PML。对于临床表现和神经影像学检查结果提示为PML但脑脊液PCR检测未检测到JCV DNA的患者，早期脑活检对PML的诊断可能很重要。
