Shields Lisa B, Iyer Vasudeva G, Highfield Hilary A, Zhang Yi Ping, Shields Christopher B
Neurological Surgery, Norton Neuroscience Institute, Norton Healthcare, Louisville, USA.
Neurology, Neurodiagnostic Center of Louisville, Louisville, USA.
Cureus. 2022 Apr 17;14(4):e24211. doi: 10.7759/cureus.24211. eCollection 2022 Apr.
Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease caused by activation of John Cunningham virus (JCV) replication in the setting of impaired cellular immunity. A positive polymerase chain reaction (PCR) assay for JCV DNA in the cerebrospinal fluid (CSF) in conjunction with clinical findings and neuroimaging are diagnostic of PML. A false negative JCV PCR in the CSF may occur, necessitating PML confirmation by brain biopsy. We describe the unique clinical profile of a patient with no prior history of immunocompromise, referred to us for electrodiagnostic evaluation, who initially presented with rapidly progressive weakness of the right upper extremity. The unusual pattern of motor weakness suggested a conduction block or disconnection at the subcortical level. The patient was later diagnosed with atypical small cell lymphocytic lymphoma although not treated with monoclonal antibodies or other forms of chemotherapy. The CSF was negative for JCV, and PML was subsequently confirmed by brain biopsy. This case illustrates an uncommon presentation of PML and highlights the need for a high index of suspicion to diagnose PML.
进行性多灶性白质脑病(PML)是一种在细胞免疫受损情况下由约翰·坎宁安病毒(JCV)复制激活引起的脱髓鞘疾病。脑脊液(CSF)中JCV DNA的聚合酶链反应(PCR)检测呈阳性,结合临床表现和神经影像学检查可诊断PML。脑脊液中JCV PCR可能出现假阴性,因此需要通过脑活检来确诊PML。我们描述了一名既往无免疫功能低下病史的患者的独特临床特征,该患者因电诊断评估转诊至我们处,最初表现为右上肢迅速进行性无力。运动无力的异常模式提示皮质下水平存在传导阻滞或脱节。该患者后来被诊断为非典型小细胞淋巴细胞淋巴瘤,尽管未接受单克隆抗体或其他形式的化疗。脑脊液JCV检测为阴性,随后通过脑活检确诊为PML。该病例说明了PML的一种不常见表现,并强调了对PML进行诊断时需要高度怀疑。