García-Mónaco R, Taylor W, Rodesch G, Alvarez H, Burrows P, Coubes P, Lasjaunias P
Neuroradiologie Vasculaire Diagnostique et Thérapeutique, Hôpital de Bicêtre, Kremlin Bicetre, France.
Neuroradiology. 1995 Jan;37(1):60-4. doi: 10.1007/BF00588522.
We present four cases of pial arteriovenous fistula (AVF) in children as the presenting manifestation of Rendu-Osler-Weber disease (ROW). The common clinical manifestations of ROW in adults, such as skin telangiectasia and mucosal haemorrhagic complications, seldom occur in children, since telangiectases develop with age. Pial AVF in ROW also conform to the usual age incidence and are therefore present in childhood. Of the four children in this series, three had multiple AVF. Two presented with central nervous system haemorrhage, one with seizures and the other with progressive neurological deficit. There were no clinical or angioarchitectural differences between the AVF associated with ROW and sporadic AVF. The diagnosis was based in all cases on the family history. Transarterial embolisation to obliterate the AVF was carried out in all patients. One patient had early rebleeding after partial embolisation of the AVF, with a fatal outcome. Three patients were cured and one asymptomatic in long-term follow up. No exhaustive search was conducted for multiorgan telangiectases, since there is no indication for treatment of asymptomatic telangiectasia in ROW. No pulmonary fistulae were found. ROW should be suspected in children with multiple pial AVF; they may be the only manifestation of the disease, since epistaxis and telangiectasia are unusual in early life.
我们报告了4例儿童软膜动静脉瘘（AVF），其为遗传性出血性毛细血管扩张症（ROW）的首发表现。ROW在成人中的常见临床表现，如皮肤毛细血管扩张和黏膜出血并发症，在儿童中很少出现，因为毛细血管扩张是随着年龄增长而发展的。ROW中的软膜AVF也符合常见的年龄发病率，因此在儿童期出现。在本系列的4名儿童中，3名有多处AVF。2名表现为中枢神经系统出血，1名表现为癫痫发作，另1名表现为进行性神经功能缺损。与ROW相关的AVF和散发性AVF在临床或血管构筑方面没有差异。所有病例的诊断均基于家族史。所有患者均进行了经动脉栓塞以闭塞AVF。1例患者在AVF部分栓塞后早期再出血，结果死亡。3例患者治愈，1例在长期随访中无症状。由于没有治疗ROW中无症状毛细血管扩张的指征，因此未对多器官毛细血管扩张进行详尽检查。未发现肺瘘。对于有多发性软膜AVF的儿童应怀疑ROW；它们可能是该疾病的唯一表现，因为鼻出血和毛细血管扩张在生命早期并不常见。
