Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.
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DOI：
10.3171/2012.2.peds11446
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发表时间：
2012-06
期刊：
影响因子：
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通讯作者：
A. Calhoun;R. Bollo;Sarah T. Garber;J. McDonald;D. Stevenson;I-Hsien Hung;D. Brockmeyer;M. Walker
中科院分区：
文献类型：
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作者：
A. Calhoun;R. Bollo;Sarah T. Garber;J. McDonald;D. Stevenson;I-Hsien Hung;D. Brockmeyer;M. Walker
遗传性出血性毛细血管扩张症(HHT)是一种常染色体显性遗传性血管发育不良，具有高外显性和可变表达。HHT的表现通常与年龄有关，脊髓动静脉瘘(AVF)可能是儿童HHT的首发症状。然而，由于脊柱动静脉瘘的报道很少，目前对HHT患者的临床治疗建议中并没有纳入筛查的内容。作者描述了2例年龄在2岁以下的儿童，在脊髓动静脉瘘的情况下出现了急性神经恶化，随后被诊断为HHT。一名患者出现脑室和蛛网膜下腔出血，另一名患者出现急性髓内静脉曲张血栓形成。这些病例突出了在患有HHT的幼儿中出现症状性动静脉动静脉瘘可能导致显著的神经系统疾病。由于缺乏关于这些病变的真实发病率和自然病史的数据，这些病例提出了一个问题，即是否应该将脊髓成像纳入HHT患者的筛查建议。
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant angiodysplasia with high penetrance and variable expression. The manifestations of HHT are often age related, and spinal arteriovenous fistula (AVF) may be the initial presentation of HHT in young children. Because spinal AVFs are rarely reported, however, screening is not incorporated into current clinical recommendations for the treatment of patients with HHT. The authors describe 2 cases of children younger than 2 years of age with acute neurological deterioration in the context of a spinal AVF and in whom HHT was subsequently diagnosed. One patient presented with intraventricular and subarachnoid hemorrhage and the other with acute thrombosis of an intramedullary varix. These cases highlight the potential for significant neurological morbidity from a symptomatic AVF in very young children with HHT. Given the lack of data regarding the true incidence and natural history of these lesions, these cases raise the question of whether spinal cord imaging should be incorporated into screening recommendations for patients with HHT.