Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease. Idiopathic or secondary brain calcification can be also associated with neurological involvement and brain-MRI T2/T2*GRE-hypointensity. Hereditary hemochromatosis (HH), characterized by systemic iron loading, usually does not involve the CNS, and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE-hypointensity have been reported. A 59-year-old man came to our observation after a diagnosis of HH carried out in another hospital 2 years before. First-level genetic test had revealed a homozygous HFE p.Cys282Tyr (C282Y) mutation compatible with the diagnosis of HFE-related HH, thus phlebotomy treatment was started. The patient had a history of metabolic syndrome, type-2 diabetes, autoimmune thyroiditis and severe chondrocalcinosis. Brain-MRI showed the presence of bilateral T2*GRE hypointensities within globus pallidus, substantia nigra, dentate nucleus and left pulvinar that were considered expression of cerebral siderosis. No neurological symptoms or family history of neurological disease were reported. Neurological examination revealed only mild right-sided hypokinetic-rigid syndrome. Vitamin D–PTH axis, measurements of serum ceruloplasmin and copper, and urinary copper were within the normal range. A brain computed tomography (CT) was performed to better characterize the suspected and unexplained brain iron accumulation. On the CT images, the hypointense regions in the brain MRI were hyperdense. DNA sequence analysis of genes associated with primary familial brain calcification and NBIA was negative. This report highlights the importance of brain CT-scan in ambiguous cases of suspected cerebral siderosis, and suggests that HH patients with a severe phenotype, and likely associated with chondrocalcinosis, may display also brain calcifications. Further studies are needed to confirm this hypothesis. So far, we can speculate that iron and calcium homeostasis could be reciprocally connected within the basal ganglia.

中文翻译：

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遗传性血色素沉着症患者的特发性脑钙化。

脑 MRI T2/T2* 梯度回波图像 (T2*GRE) 低密度检测可与铁积累相一致，并可进行鉴别诊断检查，包括脑铁积累神经退行性变 (NBIA) 和威尔逊病。特发性或继发性脑钙化也可能与神经系统受累和脑 MRI T2/T2*GRE 低血压有关。遗传性血色素沉着症 (HH) 以全身铁负荷为特征，通常不累及中枢神经系统，仅报道过偶发性神经系统异常或脑 MRI T2/T2*GRE 低血压病例。一名 59 岁的男性两年前在另一家医院诊断出 HH 后前来我们观察。一级基因检测发现纯合HFE p.Cys282Tyr (C282Y)突变符合HFE相关HH的诊断，因此开始放血治疗。该患者有代谢综合征、2型糖尿病、自身免疫性甲状腺炎和严重软骨钙质沉着症病史。脑 MRI 显示苍白球、黑质、齿状核和左侧枕骨内存在双侧 T2*GRE 低信号，被认为是脑铁质沉着症的表现。没有神经系统症状或神经系统疾病家族史的报道。神经系统检查仅显示轻度右侧运动功能减退-强直综合征。维生素 D-PTH 轴、血清铜蓝蛋白和铜的测量以及尿铜均在正常范围内。进行脑部计算机断层扫描（CT）以更好地表征可疑和无法解释的脑铁积累。在 CT 图像上，大脑 MRI 中的低信号区域是高密度的。与原发性家族性脑钙化和 NBIA 相关的基因 DNA 序列分析结果为阴性。该报告强调了脑部 CT 扫描在疑似脑铁质沉着症的模糊病例中的重要性，并表明具有严重表型且可能与软骨钙质沉着症相关的 HH 患者也可能显示脑部钙化。需要进一步的研究来证实这一假设。到目前为止，我们可以推测铁和钙的稳态在基底神经节内可能是相互关联的。