Chang Youn Hyuk, Hwang Sung-Kyun
Department of Neurosurgery, College of Medicine, Ewha Womans University, Seoul, Korea.
J Korean Neurosurg Soc. 2013 Mar;53(3):187-9. doi: 10.3340/jkns.2013.53.3.187. Epub 2013 Mar 31.
We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her admission, the patient had a sign of proteinuria in urine analysis. The pathologic findings of kidney needle biopsy implied nephrosialidosis (mucolipidosis of lysosomal stroage disease), which is consistent with a Fabry's disease. It is uncommon that Fabry's disease is presented with aneurysmal SAH, especially in middle-aged patients, but could be a clinical concern. Further investigations are needed to reveal risk factors, vascular anatomy, and causative mechanisms of Fabry's disease with aneurysmal SAH.
我们报告了一例伴有法布里病的脑动脉瘤性蛛网膜下腔出血(SAH)的罕见病例。一名42岁女性因起源于右侧后交通动脉囊状动脉瘤的动脉瘤性SAH就诊。该患者接受了动脉瘤的血管内线圈栓塞治疗。术后患者恢复良好,无任何神经功能缺损。在她住院期间,尿液分析显示有蛋白尿迹象。肾穿刺活检的病理结果提示为肾病性糖脂沉积症(溶酶体贮积病的一种粘脂沉积症),这与法布里病相符。法布里病伴动脉瘤性SAH并不常见,尤其是在中年患者中,但可能是一个临床关注点。需要进一步研究以揭示法布里病伴动脉瘤性SAH的危险因素、血管解剖结构和致病机制。