CSF1R相关白质脑病的临床特征及误诊分析

doi:10.6040/j.issn.1671-7554.0.2022.1142

摘要/Abstract

摘要： 目的总结集落刺激因子1受体(CSF1R)基因相关白质脑病的临床表现、影像学特征及相关误诊疾病,以提高临床工作者对该病的认识。方法检索2011年1月1日至2022年6月30日PubMed及中国期刊全文数据库(CNKI)中的文献,筛选所有经基因检测确诊为CSF1R相关白质脑病的病例报告。结果共纳入121例病例。其中男性58例(47.93%),女性63例(52.07%),发病年龄在20~70岁,平均42.12岁。典型临床表现为认知功能下降112例(92.56%)、精神行为异常86例(71.07%)、锥体束损害76例(62.81%)和帕金森样症状65例(53.72%)。120例患者行颅脑MRI检查,119例(99.17%)发现大脑白质损伤。36例患者完成颅脑CT检查,23例(63.89%)出现脑内钙化灶。48例患者在诊疗中被误诊为其他疾病。结论 CSF1R相关白质脑病临床表现复杂,误诊疾病多样。对于中年起病,表现为快速进展的认知功能下降、精神行为异常及运动障碍的脑白质病变患者要及时完善基因检测以明确诊断。

关键词: 集落刺激因子1受体, 白质脑病, 小胶质细胞, 误诊

Abstract: Objective To improve clinicians understanding of colony-stimulating factor 1 receptor(CSF1R)-related leukoencephalopathy by summarizing the clinical manifestations, imaging features and misdiagnosis. Methods The literatures in PubMed and CNKI databases from January 1, 2011 to June 30, 2022 were searched, and all case reports of CSF1R-related leukoencephalopathy confirmed by genetic testing were screened. Results A total of 121 cases were involved, including 58 males(47.93%)and 63 females(52.07%). The age of onset ranged from 20 to 70 years(mean 42.12 years). The most common clinical manifestations were cognitive impairments in 112 cases(92.56%), psychological and behavioral abnormalities in 86 cases(71.07%), pyramidal tract injuries in 76 cases(62.81%), and Parkinson-like symptoms in 65 cases(53.72%). Brain MRI was performed in 120 patients and white matter damages were observed in 119(99.17%). Brain CT scanning was performed in 36 patients and 23(63.89%)had calcifications. During treatment, 48 patients were misdiagnosed with other diseases. Conclusion CSF1R-related leukoencephalopathy has various and complex clinical manifestations. For middle-aged patients, it manifests with cognitive impairments, psychological and behavioral abnormalities, pyramidal tract injuries or Parkinson-like symptoms accompanied with white matter lesions and calcifications. Genetic testing is conducive for the diagnosis.

Key words: Colony-stimulating factor 1 receptor, Leukoencephalopathy, Microglia, Misdiagnosis

中图分类号:

R741

张宇,董其威,宋一鸣,杜怡峰,韩晓娟. CSF1R相关白质脑病的临床特征及误诊分析[J]. 山东大学学报 (医学版), 2023, 61(2): 31-35.

ZHANG Yu, DONG Qiwei, SONG Yiming, DU Yifeng, HAN Xiaojuan. Clinical characteristics and misdiagnosis of CSF1R-related leukoencephalopathy[J]. Journal of Shandong University (Health Sciences), 2023, 61(2): 31-35.

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