Severe vascular disturbance in a case of familial brain calcinosis
Severe vascular disturbance in a case of familial brain calcinosis
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DOI：
10.1007/s00401-005-1007-7
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发表时间：
2005-06-01
影响因子：
12.7
通讯作者：
McGeer, PL
中科院分区：
文献类型：
--
作者：
Miklossy, J;Mackenzie, IR;McGeer, PL
在这里，我们提出了一个常染色体显性脑钙质沉着症的病例的第一个神经病理学研究，在一个家庭，通过五代。这名71岁的女性在尸检时出现了异常严重和广泛的双侧脑钙化。该过程似乎始于毛细血管中直径小于1 μ m的微小钙阳性球体的沉积，否则毛细血管看起来是正常的。这些可以观察到延伸到远离主要病理的区域。在更晚期，较大的球体完全覆盖了一些毛细血管，而保留了其他毛细血管。在严重感染的区域，内皮细胞和基底膜消失后，只剩下钙球，可见鬼毛细血管。所有大小的血管都受到影响，基底节区、丘脑和小脑观察到大量增生。对这些大型沉积物的扫描电子显微镜和x射线光谱分析显示，主要存在钙和磷，加上表明有机物质的碳和氧，以及少量的钠、钾、硫和镁。反应性星形胶质细胞和反应性小胶质细胞聚集在钙化沉积物周围，表明轻度的持续炎症过程。结果表明，严重的血管损伤和轻微的炎症有助于遗传性脑钙质病缓慢但不可避免的进展。
Here we present the first neuropathological study of a case of autosomal dominant brain calcinosis in a family followed through five generations. The 71-year-old female who came to autopsy had unusually severe and extensive bilateral brain calcifications. The process appeared to start with deposition of minute calcium-positive spheroids of less than 1 mu m in diameter in capillaries that otherwise appeared normal. These could be observed extending to areas distant from the main pathology. In more advanced stages, larger spheroids completely covered some capillaries while sparing others. In heavily affected regions, ghost capillaries were observed where only calcium spheroids remained after endothelial cells and basement membranes had disappeared. Vessels of all sizes were affected, and large accretions were observed in the basal ganglia, thalamus and cerebellum. Combined scanning electron microscopy and X-ray spectrometry of these large deposits revealed a dominant presence of calcium and phosphorous, plus carbon and oxygen indicative of organic material, and small amounts of sodium, potassium, sulfur, and magnesium. Reactive astrocytes and reactive microglia accumulated around the calcified deposits, indicating a mild ongoing inflammatory process. The results suggest that severe vascular impairment and mild inflammation contribute to the slow but inexorable progression of hereditary brain calcinosis.