Novel Application of 7T MRI in CSF1R-Related Leukoencephalopathy

A 24-year-old woman underwent screening for a family history of early-onset dementia and CSF1R-related leukoencephalopathy in her mother. The patient had no symptoms, and the neurologic examination was normal. Three Tesla (3T) brain MRI revealed few scattered, nonspecific subcortical and periventricular white matter lesions (WMLs) without atrophy (Figure 1A). Genetic testing confirmed p.Leu786Ser variant in the CSF1R gene. Repeat 7T MRI better depicted WMLs (Figure 1B) and revealed characteristic frontal lobe calcifications (Figure 2). The improved sensitivity of 7T MRI benefited treatment decision-making, and the patient was referred to a clinical trial. Treatment decisions in CSF1R-related leukoencephalopathy lack a consensus algorithm but rely on various clinical and imaging features. The added diagnostic accuracy of 7T MRI may guide treatment through better sensitivity of disease severity and progression and earlier diagnosis through added specificity. Prompt diagnosis is crucial and may qualify patients for ongoing investigational drug trials or hematopoietic cell transplantation.

Automated summary

This article describes the screening and diagnosis process of a 24-year-old woman with a family history of early-onset dementia and leukoencephalopathy. The use of MRI provided additional diagnostic accuracy and helped guide treatment decisions.