原发性噬血细胞综合征患者脑实质改变影像-临床对照分析

Image-clinical comparative analysis of brain parenchymal changes in patients with primary hemophagocytic lymphohistiocytosis

目的:探讨原发性噬血细胞综合征(HLH)患者脑实质病变的MRI特点,提高原发性HLH颅脑病变的诊断水平。资料与方法:回顾性分析2016年12月—2023年8月28例原发性HLH患者颅脑MRI影像表现及临床资料,MRI分析包括脑实质病变位置、形态、大小及信号特征,测量脑室大小指数,并与临床症状、脑脊液常规及生化结果进行对照分析。结果:根据病变形状、范围将原发性HLH脑实质病变分为3型:深部白质点状病变和/或脑室周围帽状病变(Ⅰ型,15例,62.5%)、深部白质斑片状病变和/或脑室周围晕圈状病变(Ⅱ型,3例,12.5%)、深部白质/脑室周围片状弥漫病变(Ⅲ型,6例,25%);2例合并双侧尾状核病变,2例合并脑内多发出血灶。3型病变平均脑室大小指数分别为32.6%、34%、34.6%。4例表现为中枢神经系统症状患者3例为Ⅲ型病变,2例检出脑脊液细胞数/蛋白升高。10例脑脊液检查细胞数/蛋白升高患者:MRI检查2例脑实质未见异常,5例检出Ⅰ型病变,3例检出Ⅲ型病变。10例脑脊液检查细胞数/蛋白未见异常患者:MRI检查6例检出Ⅰ型病变,3例检出Ⅱ型病变,1例检出Ⅲ型病变。结论:原发性HLH中枢神经系统受累常见,MRI常表现为深部白质/脑室周围白质高信号,伴有不同程度的脑室扩张或脑萎缩,可合并单发或多发出血。不同类型的脑实质病变一定程度上能反映疾病的严重程度。

Objective:To investigate the MRI characteristics of brain parenchymal lesions in patients with primary hemophagocytic lymphohistiocytosis(HLH)and enhance the diagnostic accuracy of primary HLH.Materials and Methods:The brain MRI findings and clinical data of 28 patients with primary HLH between December 2016 and August 2023 were retrospectively analyzed.The MRI analysis encompassed the assessment of location,shape,size,and signal characteristics of brain parenchymal lesions,measurement of ventricular size index.Clinical symptoms,cerebrospinal fluid routine and biochemical were compared and analyzed.Results:Based on lesion morphology and extent,brain parenchymal lesions of primary HLH were divided into 3 types:Punctate lesions and/or periventricular cap lesions in deep white matter(typeⅠ,15 cases,62.5%).Patchy lesions and/or periventricular halo lesions in deep white matter(typeⅡ,3 cases,12.5%).Diffuse patchy lesions in deep white matter(typeⅢ,6 cases,25%),additionally,two cases were complicated with bilateral caudate nucleus lesions and two cases were complicated with multiple intracerebral hemorrhages.The mean ventricular size index of the three type lesions were 32.6%,34%and 34.6%,respectively.Four patients presented with central nervous system symptoms and 3 patients were detected typeⅢlesions.Two patients showed increased CSF cell count or protein.Among the 10 patients with elevated CSF cell count or protein,MRI examination revealed no abnormalities in brain parenchyma for two cases,five cases exhibited type I lesion patterns,and three cases demonstrated typeⅢlesion patterns.In contrast,in 10 patients with normal CSF cell count or protein,MRI examination showed typeⅠlesions in 6 cases,typeⅡlesions in 3 cases,and typeⅢlesions in 1 case.Conclusions:Central nervous system involvement is frequently observed in primary HLH.MRI often reveals hyperintensity in the deep white matter or periventricular white matter,accompanied by varying degrees of ventricular dilatation or brain atrophy,as well as single or multiple hemorrhages.Different types of brain parenchymal lesions can partially reflect the severity of the disease.