PDF(Pubmed)
Abstract：
Mosaic mutations in genes GNAQ or GNA11 lead to a spectrum of diseases including Sturge-Weber syndrome and phakomatosis pigmentovascularis with dermal melanocytosis. The pathognomonic finding of localized \"tramlining\" on plain skull radiography, representing medium-sized neurovascular calcification and associated with postnatal neurological deterioration, led us to study calcium metabolism in a cohort of 42 children. In this study, we find that 74% of patients had at least one abnormal measurement of calcium metabolism, the commonest being moderately low serum ionized calcium (41%) or high parathyroid hormone (17%). Lower levels of ionized calcium even within the normal range were significantly associated with seizures, and with specific antiepileptics despite normal vitamin D levels. Successive measurements documented substantial intrapersonal fluctuation in indices over time, and DEXA scans were normal in patients with hypocalcemia. Neurohistology from epilepsy surgery in five patients revealed not only intravascular, but perivascular and intraparenchymal mineral deposition and intraparenchymal microvascular disease in addition to previously reported findings. Neuroradiology review clearly demonstrated progressive calcium deposition in individuals over time. These findings and those of the adjoining paper suggest that calcium deposition in the brain of patients with GNAQ/GNA11 mosaicism may not be a nonspecific sign of damage as was previously thought, but may instead reflect the central postnatal pathological process in this disease spectrum.
摘要：
基因GNAQ或GNA11中的镶嵌突变导致一系列疾病，包括Sturge-Weber综合征和伴有真皮黑色素细胞增多的色素细胞增多症。在普通颅骨X线照相上的局部“tramlining”的病理发现，代表中等大小的神经血管钙化，并与出生后神经系统恶化有关，带领我们研究了42名儿童的钙代谢。在这项研究中,我们发现74%的患者至少有一次钙代谢异常，最常见的是中度低血清离子钙（41％）或高甲状旁腺激素（17％）。即使在正常范围内，较低水平的离子钙也与癫痫发作显着相关，尽管维生素D水平正常，但仍使用特定的抗癫痫药。连续测量记录了指数随时间的大幅内部波动，低钙血症患者的DEXA扫描结果正常。五名患者的癫痫手术的神经组织学显示，不仅血管内，但除了先前报道的发现外，血管周围和实质内矿物质沉积和实质内微血管疾病。神经放射学综述清楚地表明个体随时间进行性钙沉积。这些发现和相邻论文的发现表明，GNAQ/GNA11镶嵌症患者大脑中的钙沉积可能不是以前认为的非特异性损伤迹象，但可能反映了该疾病谱中的中枢产后病理过程。
