进行性多灶性白质脑病的临床和影像学分析

Clinical and imaging analysis of progressive multifocal leukoencephalopathy

目的 探讨进行性多灶性白质脑病(progressive multifocal leukoencephalopathy, PML)的临床、影像学和脑脊液特点,提高对PML的认识。方法 选取2017年2月至2022年2月首都医科大学宣武医院收治的4例经典型PML患者,查阅住院电子病例系统收集患者的临床、影像学资料和脑脊液检查结果,并进行回顾性分析。结果 4例患者中男1例,女3例,发病年龄45~73岁。常见的临床表现为认知和行为异常、运动功能障碍、感觉功能障碍和失语。影像学表现,所有患者可见皮质下白质异常信号,头颅MRIFLAIR像呈高信号影,病灶通常在皮质边界出现清晰的轮廓。所有患者MRI增强影像学表现无病灶增强。2例患者行脑脊液病原宏基因组第2代测序检测到JCVDNA。结论 对于有PML易患因素的患者,若出现认知行为异常和头颅MRI皮质下白质非增强病灶等表现,应积极完善脑脊液病原宏基因组第2代测序检查,以达到早期诊断的目的。

Objective To investigate the clinical, radiological and cerebrospinal fluid characteristics of progressive multifocal leukoencephalopathy(PML), and to improve the understand ing of PML. Methods Four patients with typical PML admitted to Xuanwu Hospital, Capital Medical University from February 2017 to February 2022 were selected, and the electronic medical records of hospitalized patients were reviewed. Clinical, radiological data and cerebrospinal fluid examination of the patients were systematically collected and retrospective analyzed. Results Among the four patients, there were one male and three females, and the onset age ranged from 45 to 73 years. The main clinical manifestations were cognitive and behavioral abnormalities, motor dysfunction, sensory dysfunction and aphasia.As for imaging findings, abnormal signals of subcortical white matter was observed in all patients, with hyperintensity on FLAIR, and lesions were usually had clear outlines at cortical boundaries. None of the patients had enhanced MRI imaging findings. JCV DNA was detected by cerebrospinal fluid pathogen metagenomic next-generation sequencing in two patients.Conclusions For patients with PML susceptibility factors who present with abnormal cognitive behavior and cranial MRI subcortical white matter non-enhancing lesions, cerebrospinal fluid pathogen metagenomic next-generation sequencing should be actively improved for the purpose of early diagnosis.