以脑白质受累为主的中枢神经系统弥漫性和多发性病变临床病理学特点分析

Clinicopathological study of central nervous system diffuse and multifocal lesions in cerebral white matter

目的总结以脑白质受累为主的中枢神经系统弥漫性和多发性病变的临床病理学特征。方法回顾分析2015年1月至2020年12月首都医科大学宣武医院诊断与治疗的27例以脑白质受累为主的中枢神经系统弥漫性和多发性病变患者的临床表现、影像学和病理学特点。结果本研究27例患者临床症状主要为感觉和运动障碍、头痛头晕、记忆力减退、语言障碍、睡眠障碍、视觉障碍和癫发作;影像学均表现为以脑白质受累为主的弥漫性和多发性病变,病变累及≥3个脑叶。24例(88.89%)行立体定向穿刺活检术,3例(11.11%)行开颅病变切除术。病理证实肿瘤性病变11例(40.74%),包括弥漫性胶质瘤(均呈大脑胶质瘤病改变)8例、淋巴组织增生性病变3例(大脑淋巴瘤病2例、血管内大B细胞淋巴瘤1例);非肿瘤性病变16例(59.26%),包括免疫介导的炎性脱髓鞘疾病10例、原发性中枢神经系统血管炎3例、进行性多灶性白质脑病1例、伴钙化与囊变的脑白质病1例、成人发病的白质脑病合并轴索球样变和色素性胶质细胞1例。结论以脑白质受累为主的中枢神经系统弥漫性和多发性病变的病理学疾病谱系涉及中枢神经系统肿瘤性和非肿瘤性病变,临床表现无特异性,立体定向穿刺技术的应用提高了此类疾病的确诊率。对病变组织行病理学检查,同时结合临床和影像学特点,明确临床病理诊断,是确保精准治疗的关键。

Objective To investigate the clinicopathological features of central nervous system diffuse and multifocal lesions in the cerebral white matter.Methods The clinical and radiological data of27 cases of diffuse and multifocal lesions in the cerebral white matter were collected from January 2015 to December 2020. The pathological features of these cases were retrospectively analyzed.Results All cases ranged from 10 to 73 years old, female 12 cases, male 15 cases. Clinical manifestations included dyskinesia and paresthesia(17 cases), headache and dizziness(10 cases), cognitive decline and language dysfunction(3 cases each), sleep disorder, visual impairment and epilepsy seizure(2 cases each). They showed diffuse and multifocal lesions in the cerebral white matter involving three or more lobes. Twentyfour cases performed stereotactic puncture, and 3 others accepted craniotomy. Pathological findings included 11 tumoral lesions, such as diffuse glioma 8 cases, lymphomatosis cerebri 2 cases, intravascular large B cell lymphoma one case;as well as 16 cases non-tumor lesions, such as idiopathic inflammatory demyelinating diseases 10 cases, primary angiitis of central nervous system 3 cases, progressive multifocal leukoencephalopathy one case, leukoencephalopathy with cerebral calcifications and cysts one case, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia one case.Conclusions Diffuse and multifocal lesions of the cerebral white matter includes tumor and non-tumoral diseases with no specific clinical manifestations. Stereotactic puncture is needed to reach a correct clinicopathological diagnosis, and ensure the precision treatment.