Liche Zhou1, Yan Chen2, Yan Li3, Sara Gharabaghi4, Yongsheng Chen5, Sean K Sethi6, Yiwen Wu7, E M Haacke8. 1. Department of Neurology, Institute of Neurology, Ruijin Hospital affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China. 2. Department of Neurology, Shandong Provincial Hospital, Jinan, China. 3. Department of Radiology, Ruijin Hospital affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China. 4. Magnetic Resonance Innovations, Bingham Farms, MI, USA. 5. Department of Neurology, Wayne State University, Detroit, MI, USA. 6. Magnetic Resonance Innovations, Bingham Farms, MI, USA; Department of Radiology, Wayne State University, Detroit, MI, USA. 7. Department of Neurology, Institute of Neurology, Ruijin Hospital affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: wyw11380@rjh.com.cn. 8. Department of Neurology, Institute of Neurology, Ruijin Hospital affiliated with Shanghai Jiao Tong University School of Medicine, Shanghai, China; Magnetic Resonance Innovations, Bingham Farms, MI, USA; Department of Radiology, Wayne State University, Detroit, MI, USA. Electronic address: nmrimaging@gmail.com.
Abstract
OBJECTIVES: Aceruloplasminemia (ACP) is a rare autosomal recessive disorder characterized by intracranial and visceral iron overload. With R2*-based imaging or quantitative susceptibility mapping (QSM), it is feasible to measure iron in the brain quantitatively, although to date this has not yet been done for patients with ACP. The aim of this study was to provide quantitative iron measurements for each affected brain region in an ACP patient with the potential to do so in all future ACP patients. This may shed light on the link between brain iron metabolism and the territories affected by ceruloplasmin function. METHODS: We imaged a patient with ACP using a 3T magnetic resonance imaging scanner with a fifteen-channel head coil. We manually demarcated gray matter and white matter on the Strategically Acquired Gradient Echo (STAGE) images, and calculated values for susceptibility and R2* in these regions. Correlation analysis was performed between the R2* values and the susceptibility values. RESULTS: Besides the usual territories affected in ACP, we also discovered that the mammillary bodies and the lateral habenulae had significant increases in iron, and the hippocampus was severely affected both in terms of iron content and abnormal tissue signal. We also noted that the iron in the cortical gray matter appeared to be deposited in the inner layers. Moreover, several pathways between the superior colliculus and the pulvinar thalamus, between the caudate and putamen anteriorly and between the caudate and pulvinar thalamus posteriorly were also evident. Finally, R2* correlated strongly with the QSM data (R2 = 0.67, t = 6.78, p < 0.001). CONCLUSION: QSM and R2* have proven to be sensitive and quantitative means by which to measure iron content in the brain. Our findings included several newly noted affected brain regions of iron overload and provided some new aspects of iron metabolism in ACP that may be further applicable to other pathologic conditions. Furthermore, our study may pave the way for assessing efficacy of iron chelation therapy in these patients and for other common iron related neurodegenerative disorders.
OBJECTIVES:Aceruloplasminemia (ACP) is a rare autosomal recessive disorder characterized by intracranial and visceral iron overload. With R2*-based imaging or quantitative susceptibility mapping (QSM), it is feasible to measure iron in the brain quantitatively, although to date this has not yet been done for patients with ACP. The aim of this study was to provide quantitative iron measurements for each affected brain region in an ACPpatient with the potential to do so in all future ACPpatients. This may shed light on the link between brain iron metabolism and the territories affected by ceruloplasmin function. METHODS: We imaged a patient with ACP using a 3T magnetic resonance imaging scanner with a fifteen-channel head coil. We manually demarcated gray matter and white matter on the Strategically Acquired Gradient Echo (STAGE) images, and calculated values for susceptibility and R2* in these regions. Correlation analysis was performed between the R2* values and the susceptibility values. RESULTS: Besides the usual territories affected in ACP, we also discovered that the mammillary bodies and the lateral habenulae had significant increases in iron, and the hippocampus was severely affected both in terms of iron content and abnormal tissue signal. We also noted that the iron in the cortical gray matter appeared to be deposited in the inner layers. Moreover, several pathways between the superior colliculus and the pulvinar thalamus, between the caudate and putamen anteriorly and between the caudate and pulvinar thalamus posteriorly were also evident. Finally, R2* correlated strongly with the QSM data (R2 = 0.67, t = 6.78, p < 0.001). CONCLUSION: QSM and R2* have proven to be sensitive and quantitative means by which to measure iron content in the brain. Our findings included several newly noted affected brain regions of iron overload and provided some new aspects of iron metabolism in ACP that may be further applicable to other pathologic conditions. Furthermore, our study may pave the way for assessing efficacy of iron chelation therapy in these patients and for other common iron related neurodegenerative disorders.
Authors: Lucia Bossoni; Ingrid Hegeman-Kleinn; Sjoerd G van Duinen; Marjolein Bulk; Lena H P Vroegindeweij; Janneke G Langendonk; Lydiane Hirschler; Andrew Webb; Louise van der Weerd Journal: Magn Reson Med Date: 2021-10-15 Impact factor: 3.737