Neuroimaging phenotypes of CSF1R-related leukoencephalopathy : Systematic review, meta-analysis, and imaging recommendations

• 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. 

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Radiologi och bildbehandling (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Radiology, Nuclear Medicine and Medical Imaging (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)

Nyckelord

CSF1R-related leukoencephalopathy

CT

microgliopathy

MRI

radiology

colony stimulating factor 1

colony stimulating factor receptor

fluorodeoxyglucose

gadolinium

ioflupane i 123

Pittsburgh compound B

adult

brain calcification

clinician

controlled study

diffusion weighted imaging

female

gene mutation

human

leukoencephalopathy

magnetic resonance angiography

male

meta analysis

neuroimaging

neuropathology

nuclear magnetic resonance imaging

phenotype

positron emission tomography

pyramidal tract

Review

single photon emission computed tomography

spinal cord

systematic review

tumor spheroid

white matter

white matter lesion

brain

diagnostic imaging

mutation

pathology

procedures

Humans

Leukoencephalopathies

Magnetic Resonance Imaging

CSF1R-related leukoencephalopathy

CT

microgliopathy

MRI

radiology

hereditary diffuse leukoencephalopathy

adult-onset leukoencephalopathy

pigmented glia alsp

csf1r gene causes

axonal spheroids

neuroaxonal

spheroids

pathological-changes

corpus-callosum

mutation

hdls

General & Internal Medicine

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