Quantitative susceptibility mapping (QSM) is a novel magnetic resonance imaging (MRI) technique for quantifying the spatial distribution of magnetic susceptibility within an object or tissue. Recently, QSM has been widely used to study various dominant magnetic susceptibility sources in the brain, including iron and calcium. In addition, the method enables mapping of the cerebral metabolic rate of oxygen, which could act as a new metabolic biomarker for diseases that involve disruption of the brain's oxygen supply. Thus, the clinical applications of QSM are wide-reaching and hold great promise as imaging biomarkers for studying several neurological diseases. This review aims to summarize the physical concepts and potential clinical applications of QSM in neuroimaging. Evidence Level: 5 Technical Efficacy: Stage 2
A 34-year-old female presented with 1-year history of progressive apathy, executive dysfunction and memory impairment. Examination revealed moderate frontal dysfunction and bipyramidal signs. MRI brain (figure-1) showed a symmetric leukoencephalopathy sparing subcortical U-fibers. Evaluation for an acquired white matter disease was negative. Next generation sequencing showed a pathogenic heterozygous missense mutation in exon 18 of CSF1R gene (p.Ile794Thr) confirming the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Inheritance is autosomal dominant or sporadic. Presence of symmetric or asymmetric non-enhancing white matter lesions with persistent diffusion restriction (figure-2) and corpus callosum thinning differentiates ALSP from acquired demyelination. 1,2
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