COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
COL4A1 Mutations Associated with a Characteristic Pattern of Intracranial Calcification
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DOI：
10.1055/s-0031-1295493
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发表时间：
2011-12-01
期刊：
影响因子：
1.4
通讯作者：
Crow, Y.
中科院分区：
文献类型：
--
作者：
Livingston, J.;Doherty, D.;Crow, Y.
简介：颅内钙化（ICC）是接受神经系统疾病检查的儿童中相对常见的放射学发现。许多原因是公认的，和ICC往往被视为一个非特异性sign.Methods：从一个正在进行的研究ICC，我们确定了5例具有特征性的放射学特征，其中一个突变的COL 4A 1基因被发现。MRI表现为脑室周围白质软化，侧脑室不规则扩张，伴或不伴脑穿通，半球白色物质体积减少，脑室周围及深部白色物质呈T（2）和FLAIR序列高信号。4例患者的MR显示明显钙化。CT扫描显示室管膜下区和脑穿通症周围的点状和线状钙化。在大脑深部白色物质和基底节中也可见钙化。结论：ICC发生于COL 4A 1相关疾病。影像学特征与其他表现出可识别ICC模式的疾病不同，如先天性巨细胞病毒感染和Aicardi-Goutieres综合征。在没有已知的脑室周围白质软化症的危险因素的情况下，这些放射学检查结果的存在应该提示COL 4A 1相关疾病的可能性。
Introduction: Intracranial calcification (ICC) is a relatively common radiological finding in children undergoing investigation for neurological disorders. Many causes are recognised, and ICC is often regarded as a non-specific sign.Methods: From an ongoing study of ICC, we identified 5 patients with characteristic radiological features, in whom a mutation in the COL4A1 gene was found.Results: All patients had CT and MR imaging. MR images demonstrated features of periventricular leukomalacia with irregular dilatation of the lateral ventricles with or without porencephaly, loss of hemispheric white matter volume, and high signal on T(2) and FLAIR sequences within periventricular and deep white matter. Calcification was apparent on MR in 4 patients. CT scans demonstrated spot and linear calcification in the subependymal region and around areas of porencephaly. Calcification was also visible in the deep cerebral white matter and basal ganglia. 1 patient showed calcification in the central pons.Conclusion: ICC occurs in COL4A1-related disease. The radiological features are distinct from other conditions demonstrating recognisable patterns of ICC, such as congenital cytomegalovirus infection and Aicardi-Goutieres syndrome. In the absence of a known risk factor for periventricular leukomalacia, the presence of these radio logical findings should suggest the possibility of COL4A1-related disease.