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.

中文翻译：

---

铜蓝蛋白血症的颅内铁分布和定量：一个案例研究。

目的铜蓝蛋白血症（ACP）是一种罕见的常染色体隐性遗传疾病，其特征是颅内和内脏铁超负荷。使用基于R2 *的成像或定量磁化图（QSM），定量测量大脑中的铁是可行的，尽管迄今为止，尚未对ACP患者进行此操作。这项研究的目的是为ACP患者的每个受影响的大脑区域提供定量的铁测量，并有可能在所有未来的ACP患者中进行。这可能会揭示脑铁代谢与受铜蓝蛋白功能影响的区域之间的联系。方法我们使用带有15通道头部线圈的3T磁共振成像扫描仪对ACP患者进行了成像。我们在策略上获得的梯度回波（STAGE）图像上手动划定了灰质和白质，计算出这些区域的磁化率和R2 *值。在R2 *值和磁化率值之间进行相关分析。结果除了受ACP影响的通常地区外，我们还发现，乳突和外侧ha管中的铁含量显着增加，在铁含量和异常组织信号方面，海马受到严重影响。我们还注意到，皮质灰质中的铁似乎沉积在内层中。此外，上丘与丘脑丘脑之间，前尾状与壳核之间以及后尾状与丘脑丘脑之间的一些通路也很明显。最后，R2 *与QSM数据密切相关（R2 = 0.67，t = 6.78，p <0.001）。结论已证明QSM和R2 *是测量大脑中铁含量的灵敏和定量手段。我们的发现包括几个新近注意到的铁超负荷的受影响大脑区域，并提供了ACP中铁代谢的一些新方面，这些方面可能进一步适用于其他病理状况。此外，我们的研究可能为评估铁螯合疗法在这些患者以及其他常见的铁相关神经退行性疾病中的疗效铺平了道路。