吻合术后反复新发动脉瘤形成：基因变异RNF213 c.14576G>A的潜在风险。
Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G>A.
作者信息
Fukushima Yuta, Miyawaki Satoru, Inoue Tomohiro, Shimizu Seiichiro, Yoshikawa Gakushi, Imai Hideaki, Saito Nobuhito, Tsutsumi Kazuo
机构信息
Department of Neurosurgery, Showa General Hospital, Kodaira, Tokyo, Japan.
Department of Neurosurgery, The University of Tokyo Hospital, Tokyo, Japan.
出版信息
Surg Neurol Int. 2015 Mar 20;6:41. doi: 10.4103/2152-7806.153709. eCollection 2015.
BACKGROUND
De novo aneurysm formation after intracranial anastomotic surgery is a relatively rare complication with fewer than 20 reported cases, and the mechanism is still unclear.
CASE DESCRIPTION
A 63-year-old male treated for symptomatic internal carotid artery occlusion developed de novo aneurysms twice after anastomoses first of the superficial temporal artery-middle cerebral artery and second of the external carotid artery-radial artery-middle cerebral artery over a 10-year period. The first de novo aneurysm was successfully resected with pathological diagnosis of true aneurysm. The second de novo aneurysm thrombosed naturally after gradual growth. Genetic testing of the patient revealed the c.14576G>A (p.R4859K) variant in ring finger protein 213, which is a susceptibility gene for moyamoya disease.
CONCLUSIONS
This genetic variant was probably involved in the repeated de novo aneurysm formation, and this case represents a rare phenotype of the genetic variant.
背景
颅内吻合术后新发动脉瘤是一种相对罕见的并发症，报告病例少于20例，其机制仍不清楚。
病例描述
一名63岁男性因症状性颈内动脉闭塞接受治疗，在10年期间先后进行了颞浅动脉-大脑中动脉吻合术和颈外动脉-桡动脉-大脑中动脉吻合术，术后两次出现新发动脉瘤。首次新发动脉瘤成功切除，病理诊断为真性动脉瘤。第二次新发动脉瘤在逐渐增大后自然血栓形成。对该患者的基因检测发现无名指蛋白213存在c.14576G>A（p.R4859K）变异，该蛋白是烟雾病的易感基因。
结论
这种基因变异可能与反复新发动脉瘤形成有关，该病例代表了这种基因变异的罕见表型。
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