Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy

Takuya Fujiwara; Yoshiyuki Watanabe; Hisashi Tanaka; Hiroto Takahashi; Shin Nabatame; Wang Yi; Noriyuki Tomiyama

doi:10.1259/bjrcr.20180078

Quantitative susceptibility mapping (QSM) evaluation of infantile neuroaxonal dystrophy

BJR Case Rep. 2019 Feb 21;5(2):20180078. doi: 10.1259/bjrcr.20180078. eCollection 2019 Jun.

Authors

Takuya Fujiwara¹, Yoshiyuki Watanabe¹, Hisashi Tanaka¹, Hiroto Takahashi¹, Shin Nabatame², Wang Yi³, Noriyuki Tomiyama¹

Affiliations

¹ Diagnostic and Interventional Radiology, Osaka University Graduate School of Medicine, Suita, Japan.
² Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
³ Biomedical Engineering, Cornell University, Ithaca, NY, USA.

Abstract

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 T ₂* 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.