PDF(Pubmed)
Abstract：
BACKGROUND: Danon disease is a lysosomal storage disorder with X-linked inheritance. The classic triad is severe hypertrophic cardiomyopathy, myopathy, and intellectual disability, with different phenotypes between both genders. Ischemic stroke is an uncommon complication, mostly cardioembolic, related to intraventricular thrombus or atrial fibrillation, among others.
METHODS: We report the case of a 14-year-old Caucasian male patient with Danon disease who suffered from an acute ischemic stroke due to occlusion in the M1 segment of the middle cerebral artery. He underwent mechanical thrombectomy, resulting in successful revascularization with satisfactory clinical outcome. We objectified the intraventricular thrombus in the absence of arrhythmic events.
CONCLUSIONS: To our knowledge, we report the first case of ischemic stroke related to Danon disease treated with endovascular treatment.
METHODS: We report the case of a 14-year-old Caucasian male patient with Danon disease who suffered from an acute ischemic stroke due to occlusion in the M1 segment of the middle cerebral artery. He underwent mechanical thrombectomy, resulting in successful revascularization with satisfactory clinical outcome. We objectified the intraventricular thrombus in the absence of arrhythmic events.
CONCLUSIONS: To our knowledge, we report the first case of ischemic stroke related to Danon disease treated with endovascular treatment.
摘要：
背景：Danon病是一种X连锁遗传的溶酶体贮积症。典型的三联症是严重的肥厚型心肌病,肌病,和智力残疾，两种性别之间的表型不同。缺血性中风是一种罕见的并发症，主要是心脏栓塞，与心室内血栓或心房颤动有关，在其他人中。
方法：我们报道了一例14岁男性白种人Danon病患者，因大脑中动脉M1段闭塞导致急性缺血性卒中。他接受了机械血栓切除术,导致成功的血运重建和满意的临床结果。在没有心律失常事件的情况下，我们对脑室内血栓进行了客观化。
结论：据我们所知，我们报道了首例接受血管内治疗的与Danon疾病相关的缺血性卒中病例。
方法：我们报道了一例14岁男性白种人Danon病患者，因大脑中动脉M1段闭塞导致急性缺血性卒中。他接受了机械血栓切除术,导致成功的血运重建和满意的临床结果。在没有心律失常事件的情况下，我们对脑室内血栓进行了客观化。
结论：据我们所知，我们报道了首例接受血管内治疗的与Danon疾病相关的缺血性卒中病例。
