Waybright E A, Selhorst J B, Rosenblum W I, Suter C G
Ann Neurol. 1978 May;3(5):464-7. doi: 10.1002/ana.410030522.
A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Galen malformation. Hemangiomas that grossly resembled the skin lesions of BRBNS were seen on the cerebral surface. Many of these hemangiomas were thrombosed and overlay patchy zones of infarction. Numerous vascular malformations of varying histological types were also found within the brain and systemic organs. Bluish, compressible, often raised hemangiomas of the skin should alert physicians to the BRBNS and the potential for vascular malformations ot occur within the brain as well as systemic organs. Diagnosis of BRBNS involving the brain may assist in interpretation of radiographic findings. The tendency of these malformations to thrombose may account for focal neurological deficits.
本文描述了一名患有蓝色橡皮疱痣综合征（BRBNS）皮肤特征、局灶性癫痫发作和偏侧化神经体征的患者。计算机断层扫描（CAT）显示大脑大静脉区域有一个无强化密度影。神经病理学检查表明，该密度影是大脑大静脉畸形内的一个血栓。在脑表面可见与BRBNS皮肤病变外观极为相似的血管瘤。其中许多血管瘤已形成血栓，并覆盖在散在的梗死区域。在脑和全身器官内还发现了许多不同组织学类型的血管畸形。皮肤出现蓝色、可压缩且常隆起的血管瘤应提醒医生注意BRBNS以及脑和全身器官发生血管畸形的可能性。诊断涉及脑部的BRBNS可能有助于解读影像学检查结果。这些畸形易于形成血栓的倾向可能是导致局灶性神经功能缺损的原因。
