Zeydan Burcu, Benbir Gulcin, Uluduz Derya, Ince Birsen, Goksan Baki, Islak Civan
Department of Neurology, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey.
Am J Med Genet A. 2014 May;164A(5):1284-8. doi: 10.1002/ajmg.a.36440. Epub 2014 Mar 24.
A 37-year-old male, previously diagnosed with GAPO syndrome, was admitted to our hospital complaining of recurrent episodes of transient weakness and numbness in his left arm for 3 months, and severe headache with progressive dysphagia for 15 days. His cranial magnetic resonance (MR) images showed multiple ischemic foci in the bilateral periventricular and supraventricular white matter. Cerebral MR-angiography showed total occlusion of the right internal carotid artery and moderate stenosis in the left internal carotid. We also detected chronic thrombotic changes in the distal left sigmoid sinus, proximal right sigmoid sinus, and bilateral jugular veins on cerebral MR-venography. He was diagnosed with dilated cardiomyopathy at age 31 years, which was reported as a novel association; and later he had a myocardial infarction at age 34 years. To the best of our knowledge, this is the first patient with GAPO syndrome and arterial atherosclerosis in cerebral-as well as coronary-arteries and intracranial venous thrombosis. We report the evolution of the disease in this patient, who died at age 38 years due to respiratory failure secondary to lower respiratory tract infection.
一名37岁男性，既往诊断为GAPO综合征，因左臂反复出现短暂性无力和麻木3个月，以及严重头痛伴进行性吞咽困难15天入院。其头颅磁共振（MR）图像显示双侧脑室周围和室上白质有多个缺血灶。脑MR血管造影显示右侧颈内动脉完全闭塞，左侧颈内动脉中度狭窄。我们还在脑MR静脉造影中检测到左侧乙状窦远端、右侧乙状窦近端和双侧颈静脉的慢性血栓形成改变。他在31岁时被诊断为扩张型心肌病，这被报道为一种新的关联；后来他在34岁时发生了心肌梗死。据我们所知，这是首例患有GAPO综合征且同时存在脑动脉和冠状动脉粥样硬化以及颅内静脉血栓形成的患者。我们报告了该患者的疾病进展情况，其最终因下呼吸道感染继发呼吸衰竭，于38岁时死亡。
