Ishizaka Shunsuke, Sou Gouhei, Morofuji Youichi, Hayashi Kentaro, Kitagawa Naoki, Tateishi Youhei, Morikawa Minoru, Suyama Kazuhiko, Nagata Izumi
Department of Neurosurgery, Nagasaki University of Medicine, Sakamoto, Nagasaki, Japan.
Brain Nerve. 2010 Oct;62(10):1083-8.
The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. RTS displays an autosomal dominant inheritance pattern and is typically caused by cAMP response element-binding (CREB)-binding protein deficiency. Various complications such as eye anomalies and a variety of congenital heart defects are reported in such cases. We treated an RTS patient who had a dissecting aneurysm of the anterior cerebral artery. The patient was a 44-year-old man who was brought to our hospital because of sudden left hemiplegia. Magnetic resonance images showed a cerebral infarction caused by anterior cerebral artery dissection. Coil embolization was performed on enlargement of the dissecting aneurysm, and the procedure was successful.
RTS may be accompanied by cerebrovascular disease.
鲁宾斯坦-泰比综合征（RTS）被定义为先天性异常，其特征为出生后生长发育迟缓、小头畸形、特殊面部特征、拇指和大脚趾粗大以及智力障碍。RTS呈常染色体显性遗传模式，通常由环磷酸腺苷反应元件结合（CREB）结合蛋白缺乏引起。此类病例报告了各种并发症，如眼部异常和多种先天性心脏缺陷。我们治疗了一名患有大脑前动脉夹层动脉瘤的RTS患者。该患者为一名44岁男性，因突发左侧偏瘫被送至我院。磁共振成像显示大脑前动脉夹层导致脑梗死。对夹层动脉瘤扩大处进行了弹簧圈栓塞，手术成功。
RTS可能伴有脑血管疾病。
