摘要
目的探讨成人起病的脑白质病伴轴索球样变和色素胶质细胞(ALSP)的临床及影像特征,以期提高对该病的认识及对早期影像的诊断能力。方法回顾性分析3例经临床诊断的ALSP病人,分析其临床表现、神经影像学特征和基因检查结果,并行文献复习。结果ALSP病人的临床表现多样,3例病人均有认知障碍和锥体束征,存在精神行为异常和帕金森病样表现者2例,存在癫、共济失调和步态异常者2例。MRI显示3例病人双侧侧脑室旁和深部白质多发病变,呈额、顶叶分布,可累及胼胝体;2例累及锥体束,均未累及脑干;3例病变均呈不对称分布,其中2例病灶呈大片状、融合分布;3例均未见病灶强化及皮质下U纤维受累;除白质病变外,3例病人均可见侧脑室扩大和病变区扩散加权成像(DWI)点片状高信号,2例病人伴脑叶萎缩。2例病人CT伴点状微小钙化灶。2例病人基因诊断发现CSF1R突变。3例病人实验室检查均未见明显异常。结论中青年ALSP病人可表现为认知障碍,影像表现具有一定特征,可见以额顶叶受累为主的白质异常信号,伴受累部位脑叶萎缩、胼胝体萎缩,DWI上呈高信号和/或点状钙化,结合临床、影像特征及基因检查可考虑本病。
Objective To explore the clinical and imaging characteristics of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia(ALSP)in order to improve the recognition and the ability of early imaging diagnosis.Methods Three cases of ALSP including their clinical manifestations,neuroimaging features and genetic findings were retrospectively analyzed,and relevant literatures were reviewed.Results The clinical manifestations of ALSP patients varied,with cognitive impairment and pyramidal sign in 3 patients,psycho-behavioral abnormalities and parkinsonism in 2 patients,and epilepsy,ataxia and gait abnormalities in 2 patients.MRI showed multiple lesions in the bilateral paraventricular and deep white matter in 3 patients,with frontal and parietal distribution and involvement of corpus callosum.Two cases involved the pyramidal tract,but none affected involved the brainstem;the lesions were asymmetrically distributed in all cases,with confluent lesions in 2 cases;none of the 3 cases showed lesion enhancement or subcortical U-fiber involvement.In addition to the white matter lesions,all patients showed enlargement of the lateral ventricles and limited diffusion on DWI,2 patients had lobar atrophy,and 2 patients had microcalcifications on CT.Two patients were found to have CSF1R mutations.No significant abnormalities were seen in the laboratory tests in the 3 patients.Conclusion The imaging presentation of ALSP is characteristic,and the diagnosis of the disease should be considered in young and middle-aged patients with cognitive impairment,abnormal white matter signal and atrophy with predominant frontal and parietal lobe involvement,corpus callosum atrophy,DWI high signal and/or microcalcifications on imaging.
作者
张晓倩
刘泽宇
有慧
冯逢
ZHANG Xiaoqian;LIU Zeyu;YOU Hui;FENG Feng(Department of Radiology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)
出处
《国际医学放射学杂志》
北大核心
2022年第2期215-219,共5页
International Journal of Medical Radiology
基金
科技部国家重点研发计划项目(2020YFA0804500)。
关键词
成人起病的脑白质病伴轴索球样变和色素胶质细胞
遗传性弥漫性白质脑病合并轴索球样变
集落刺激因子1受体
脑白质病
磁共振成像
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids
Colony-stimulating factor 1 receptor
Leukoencephalopathy
Magnetic resonance imaging
