1 病例介绍 患者男性,20岁,大学在校学生,未婚.主诉"发作性右侧肢体抖动2年余"于2020年8月14日入院.2018年5月某日患者卧床休息时突然出现右侧肢体抖动,不受控制,持续数秒,不伴肢体无力麻木、视物模糊、言语不清,无意识丧失,发作后无不适.此后反复出现上述发作性右侧肢体抖动,每次幅度、持续时间不一,最短持续10?s,最长持续2?h,数天1次(入院前4个月发作15次).发作与姿势位置无关,无明确诱因,睡眠中无发作.发作间期神经科查体正常.期间外院住院治疗,头颅常规MRI检查未见异常,头颈CTA示:左侧大脑前动脉A1段、左侧大脑中动脉M1段狭窄.出院时考虑TIA、颅内血管狭窄(血管炎可能),予泼尼松抗炎、抗血小板聚集、调脂药物口服,治疗3个月无好转.为求进一步诊治,就诊于北京协和医院神经科.

Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.