Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic (mostly incurable) and secondary (potentially treatable). The first group includes mainly the hereditary diseases identified before 2021 (primary familial brain calcification subtypes, previously known as Fahr's disease or Fahr's syndrome). In contrast, the second group includes diseases with cerebral calcification that develop generally as a consequence of metabolic/endocrine/autoimmune abnormalities. The aim of our research was to present hereditary and non-hereditary etiologies associated with extensive brain calcification. We compare the detailed clinical, radiological and laboratory results of 6 patients with prominent cerebral calcification identified in our clinic in the last 3 years (idiopathic and secondary etiologies as well). Our research draws attention to the complexity of the etiologies in the context of cerebral calcification. We recommend, beside NGS-based sequence analyses, the application of array comparative genomic hybridization as well, to identify potential genetic etiologies associated with brain calcification.

中文翻译：

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与广泛脑钙化相关的遗传性和非遗传性病因：病例系列。

脑钙化可能是由几种潜在的可治疗疾病引起的，但在大多数情况下，它在临床实践中并未受到特别关注。从病因学的角度来看，与脑钙化相关的疾病可分为两大类：特发性（大多数无法治愈）和继发性（可能治愈）。第一组主要包括 2021 年之前确定的遗传性疾病（原发性家族性脑钙化亚型，以前称为 Fahr 病或 Fahr 综合征）。相比之下，第二组包括通常由代谢/内分泌/自身免疫异常引起的脑钙化疾病。我们研究的目的是介绍与广泛的脑钙化相关的遗传性和非遗传性病因。我们比较了过去 3 年在我们诊所发现的 6 名明显脑钙化患者（特发性和继发性病因）的详细临床、放射学和实验室结果。我们的研究提请注意脑钙化背景下病因的复杂性。除了基于 NGS 的序列分析外，我们还建议应用阵列比较基因组杂交来确定与脑钙化相关的潜在遗传病因。