Department of Physical Medicine and Rehabilitation, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
Department of Skin and Venereal Diseases, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania.
J Intern Med. 2022 Mar;291(3):269-282. doi: 10.1111/joim.13420. Epub 2021 Dec 22.
Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare but fatal microgliopathy. The diagnosis is often delayed due to multifaceted symptoms that can mimic several other neurological disorders. Imaging provides diagnostic clues that help identify cases. The objective of this study was to integrate the literature on neuroimaging phenotypes of CSF1R-related leukoencephalopathy. A systematic review and meta-analysis were performed for neuroimaging findings of CSF1R-related leukoencephalopathy via PubMed, Web of Science, and Embase on 25 August 2021. The search included cases with confirmed CSF1R mutations reported under the previous terms hereditary diffuse leukoencephalopathy with spheroids, pigmentary orthochromatic leukodystrophy, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In 78 studies providing neuroimaging data, 195 cases were identified carrying CSF1R mutations in 14 exons and five introns. Women had a statistically significant earlier age of onset (p = 0.041, 40 vs 43 years). Mean delay between symptom onset and neuroimaging was 2.3 years. Main magnetic resonance imaging (MRI) findings were frontoparietal white matter lesions, callosal thinning, and foci of restricted diffusion. The hallmark computed tomography (CT) finding was white matter calcifications. Widespread cerebral hypometabolism and hypoperfusion were reported using positron emission tomography and single-photon emission computed tomography. In conclusion, CSF1R-related leukoencephalopathy is associated with progressive white matter lesions and brain atrophy that can resemble other neurodegenerative/-inflammatory disorders. However, long-lasting diffusion restriction and parenchymal calcifications are more specific findings that can aid the differential diagnosis. Native brain CT and brain MRI (with and without a contrast agent) are recommended with proposed protocols and pictorial examples are provided.
集落刺激因子 1 受体（CSF1R）相关脑白质病是一种罕见但致命的小胶质病。由于其症状复杂多样，可模仿多种其他神经疾病，因此诊断常常被延误。影像学提供了有助于识别病例的诊断线索。本研究的目的是整合 CSF1R 相关脑白质病的神经影像学表型文献。通过 2021 年 8 月 25 日在 PubMed、Web of Science 和 Embase 上对 CSF1R 相关脑白质病的神经影像学发现进行了系统评价和荟萃分析。检索包括以前使用遗传性弥漫性脑白质病伴类球体、色素性正染色性白质营养不良和成人发病伴轴索性类球体和色素性神经胶质脑白质病术语报道的伴有 CSF1R 突变的病例。在提供神经影像学数据的 78 项研究中，确定了 195 例携带 CSF1R 突变的病例，这些突变位于 14 个外显子和 5 个内含子中。女性的发病年龄具有统计学意义更早（p=0.041，40 岁 vs 43 岁）。症状发作和神经影像学之间的平均延迟时间为 2.3 年。主要磁共振成像（MRI）表现为额顶叶白质病变、胼胝体变薄和局灶性弥散受限。CT 的标志表现为脑白质钙化。使用正电子发射断层扫描和单光子发射计算机断层扫描报告了广泛的脑代谢和灌注减少。总之，CSF1R 相关脑白质病与进行性白质病变和脑萎缩有关，这些病变可能类似于其他神经退行性/-炎症性疾病。然而，持久的弥散受限和实质钙化是更具特异性的发现，可以辅助鉴别诊断。建议采用原始脑 CT 和脑 MRI（有无造影剂），并提供了建议方案和图像示例。
