Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy
We present the first case of twins with infantile neuroaxonal dystrophy evaluating brain iron deposition using quantitative susceptibility mapping (QSM). A 6-year-old boy who was normal at birth had psychomotor regression and hypotonia from 2-years-old. Brain MRI showed low intensity areas in globus pallidus (GP) and substantia nigra (SN) on T2* weighted imaging. QSM values of GP and SN were 0.19 and 0.29 ppm, respectively. His twin brother showed almost the same imaging findings. Follow-up MRI revealed increase of QSM value in GP and SN.