MRI Findings in Neuroferritinopathy

摘要

Neuroferritinopathy is a neurodegenerative disease whichdemonstrates brain iron accumulation caused by the mutations inthe ferritin light chain gene. On brain MRI inneuroferritinopathy, iron deposits are observed as low-intensityareas on T2WI and as signal loss on T2*WI. On T2WI, hyperintenseabnormalities reflecting tissue edema and gliosis are also seen. Another characteristic finding is the presence of symmetricalcystic changes in the basal ganglia, which are seen in theadvanced stages of this disorder. Atrophy is sometimes noted inthe cerebellar and cerebral cortices. The variety in the MRIfindings is specific to neuroferritinopathy. Based on observationsof an excessive iron content in patients with chronic neurologicdisorders, such as Parkinson disease and Alzheimer disease, thepresence of excess iron is therefore recognized as a major riskfactor for neurodegenerative diseases. The future development ofmultimodal and advanced MRI techniques is thus expected to play animportant role in accurately measuring the brain iron content andthereby further elucidating the neurodegenerative process.