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进行性多灶性白质脑病患者的非典型表现

Atypical Presentation of a Patient With Progressive Multifocal Leukoencephalopathy.

作者信息

Adapa Saimounika, Jagdale Nilesh, Vutukuru Kalyan K, Kondapalli Mohith Prakash, Agarwal Sonali

机构信息

Department of General Medicine, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.

出版信息

Cureus. 2024 Jun 17;16(6):e62545. doi: 10.7759/cureus.62545. eCollection 2024 Jun.

Abstract

Progressive multifocal leukoencephalopathy (PML) is a rare, demyelinating infectious disease of the central nervous system, primarily affecting immunosuppressed individuals, such as those with acquired immunodeficiency syndrome (AIDS) or undergoing immunosuppressive therapy. The causative agent is the dormant John Cunningham (JC) polyomavirus, which reactivates in immunocompromised patients. PML is diagnosed through clinical observations, imaging, and polymerase chain reaction (PCR) analysis, detecting JC virus deoxyribonucleic acid (DNA) in the cerebrospinal fluid (CSF). Here, we report a case of a 42-year-old male, recently diagnosed with human immunodeficiency virus (HIV), who presented with slurred speech, difficulty articulating, tingling in both feet, difficulty walking, and significant weight loss. Examination revealed absent reflexes, coordination impairment, and diminished vibration sense. Blood tests showed anemia, elevated D-dimer, and HIV-1 positivity with a low CD4 count. CSF analysis indicated a lymphocytic profile with elevated protein and marginally increased adenosine deaminase (ADA). Autoantibody testing was positive for antinuclear antibodies (ANA), but CSF culture and India ink staining were negative. Magnetic resonance imaging (MRI) of the brain revealed hyperintense lesions on T2-weighted and fluid-attenuated inversion recovery (FLAIR) images in the left peritrigonal and parietal white matter, suggesting demyelination. The diagnosis of PML was confirmed by a positive JC virus PCR result from the CSF. The patient was started on combination antiretroviral therapy (cART) and supportive measures to improve immune status. This case underscores the importance of considering PML in patients with new-onset neurological symptoms and immunosuppression.

摘要

进行性多灶性白质脑病(PML)是一种罕见的中枢神经系统脱髓鞘感染性疾病,主要影响免疫功能低下的个体,如获得性免疫缺陷综合征(AIDS)患者或正在接受免疫抑制治疗的患者。病原体是潜伏的约翰·坎宁安(JC)多瘤病毒,它在免疫功能低下的患者中重新激活。PML通过临床观察、影像学检查和聚合酶链反应(PCR)分析进行诊断,即在脑脊液(CSF)中检测JC病毒脱氧核糖核酸(DNA)。在此,我们报告一例42岁男性病例,该患者最近被诊断为人类免疫缺陷病毒(HIV)感染,出现言语含糊、发音困难、双足刺痛、行走困难和体重显著减轻。检查发现反射消失、协调功能障碍和振动觉减退。血液检查显示贫血、D-二聚体升高、HIV-1阳性且CD4计数低。脑脊液分析显示淋巴细胞增多、蛋白升高且腺苷脱氨酶(ADA)略有升高。自身抗体检测抗核抗体(ANA)呈阳性,但脑脊液培养和墨汁染色均为阴性。脑部磁共振成像(MRI)显示左侧三角区周围和顶叶白质在T2加权和液体衰减反转恢复(FLAIR)图像上有高信号病变,提示脱髓鞘。脑脊液JC病毒PCR结果呈阳性,确诊为PML。该患者开始接受联合抗逆转录病毒治疗(cART)及支持性措施以改善免疫状态。该病例强调了在新发神经症状和免疫抑制患者中考虑PML的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0301/11253582/5e9d413cd603/cureus-0016-00000062545-i01.jpg

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