Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Stroke Vasc Neurol. 2022 Feb;7(1):38-46. doi: 10.1136/svn-2021-001020. Epub 2021 Aug 3.
p.R544C mutation accounts for 5% of spontaneous intracerebral haemorrhage (ICH) in East Asian patients. We investigated whether certain CT features are associated with -related ICH.
Patients with spontaneous ICH from a prospective stroke registry were screened for p.R544C mutation. The neuroimaging features on the initial non-contrast CT scans selected to predict p.R544C mutation, including burden of white matter lesion (WML), degree of brain atrophy, number of lacunes, prominent juxtacortical WML and prominent lobar lacunes, were analysed by neuroradiologists blinded to the mutation status.
Of 299 patients with spontaneous ICH (mean age, 61 years; male, 68%; ICH volumes, 14.1±17.8 mL), 13 patients (4.3%) carried p.R544C mutation. The clinical features, haematoma size and location were similar between p.R544C mutation carriers and non-carriers. The CT scan revealed that patients with p.R544C mutation had more severe WML and more frequently had prominent juxtacortical WML (69.2% vs 17.8%, p<0.001), and the effects were not driven by ageing as seen in patients without mutation. Prominent juxtacortical WML (area under receiver operating characteristic curve=0.76) outperformed the total WML score and prominent lobar lacunes and significantly predicted p.R544C mutation in a multivariable-adjusted model (OR, 20.9; 95% CI 4.94 to 88.6).
In patients with spontaneous ICH, the severity and topographic distribution of WML can help in identifying potential mutation-related ICH.
p.R544C 突变占东亚自发性脑出血（ICH）患者的 5%。我们研究了某些 CT 特征是否与 p.R544C 突变相关ICH 有关。
从一项前瞻性卒中登记处筛选出自发性 ICH 患者，筛查 p.R544C 突变。选择预测 p.R544C 突变的初始非对比 CT 扫描的神经影像学特征，包括脑白质病变（WML）负担、脑萎缩程度、腔隙数量、皮质下 WML 明显和叶性腔隙明显，由对突变状态不知情的神经放射科医生进行分析。
在 299 例自发性 ICH 患者（平均年龄 61 岁；男性 68%；ICH 体积 14.1±17.8mL）中，有 13 例（4.3%）携带 p.R544C 突变。p.R544C 突变携带者和非携带者的临床特征、血肿大小和位置相似。CT 扫描显示，p.R544C 突变患者的 WML 更严重，更频繁地出现皮质下 WML 明显（69.2% vs 17.8%，p<0.001），并且在没有突变的患者中，这些影响不是由年龄引起的。皮质下 WML 明显（接受者操作特征曲线下面积=0.76）优于总 WML 评分和叶性腔隙明显，并在多变量调整模型中显著预测 p.R544C 突变（OR，20.9；95%CI，4.94 至 88.6）。
在自发性 ICH 患者中，WML 的严重程度和拓扑分布有助于识别潜在的 p.R544C 突变相关 ICH。
