Román G, Fisher M, Perl D P, Poser C M
Ann Neurol. 1978 Aug;4(2):130-44. doi: 10.1002/ana.410040207.
Two cases of hereditary hemorrhagic telangiectasia (HHT) with neurological involvement are presented. One patient had multiple vascular malformations including telangiectasias of the brain, medulla, and spinal cord and a berry aneurysm of the internal carotid artery; she also had a large cerebellar abscess, presumably reflecting the presence of a pulmonary arteriovenous fistula. The second patient had an idiopathic subarachnoid hemorrhage. In more than 200 reported patients with HHT involving the nervous system, 61% had lesions seondary to a pulmonary arteriovenous fistula (cerebral hypoxemia, paradoxical and septic emboli, and brain abscess). The findings emphasize the need for early surgical correction of such fistulas. In 36% of the patients with neurological involvement and HHT, vascular malformations of the brain and spinal cord were documented, and in 3%, portal-systemic encephalopathy was noted. Multiple lesions were frequent. HHT should be considered a generalized vascular dysplasia (universal or systemic angiomatosis), and not simply a benign mucocutaneous disease.
本文报告了两例伴有神经受累的遗传性出血性毛细血管扩张症（HHT）。一名患者有多个血管畸形，包括脑、延髓和脊髓的毛细血管扩张以及颈内动脉的浆果样动脉瘤；她还患有一个巨大的小脑脓肿，推测这反映了存在肺动静脉瘘。第二名患者发生了特发性蛛网膜下腔出血。在200多名报告的累及神经系统的HHT患者中，61%有继发于肺动静脉瘘的病变（脑缺氧、反常栓塞和脓毒性栓塞以及脑脓肿）。这些发现强调了对此类瘘管进行早期手术矫正的必要性。在36%的伴有神经受累的HHT患者中，记录到脑和脊髓的血管畸形，3%的患者出现门体性脑病。多发病变很常见。HHT应被视为一种全身性血管发育异常（全身性或系统性血管瘤病），而不仅仅是一种良性黏膜皮肤疾病。
