Journal of Shandong University (Health Sciences) ›› 2023, Vol. 61 ›› Issue (2): 31-35.doi: 10.6040/j.issn.1671-7554.0.2022.1142

• 临床医学 • Previous Articles     Next Articles

Clinical characteristics and misdiagnosis of CSF1R-related leukoencephalopathy

ZHANG Yu1, DONG Qiwei1, SONG Yiming2, DU Yifeng1,2, HAN Xiaojuan1,2   

  1. 1. Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China;
    2. Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China
  • Published:2023-02-17

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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

CLC Number: 

  • R741
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