Calhoun Amy R U L, Bollo Robert J, Garber Sarah T, McDonald Jamie, Stevenson David A, Hung Irene H, Brockmeyer Douglas L, Walker Marion L
Department of Pediatrics, Division of Medical Genetics, Primary Children’s Medical Center, Salt Lake City, UT 84113, USA.
J Neurosurg Pediatr. 2012 Jun;9(6):654-9. doi: 10.3171/2012.2.PEDS11446.
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.
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性血管发育异常疾病，具有高外显率和可变表达。HHT的表现通常与年龄相关，脊髓动静脉瘘（AVF）可能是幼儿HHT的首发表现。然而，由于脊髓AVF的报道很少，目前HHT患者的临床治疗建议中并未纳入筛查。作者描述了2例2岁以下儿童，他们在脊髓AVF的情况下出现急性神经功能恶化，随后被诊断为HHT。1例患者表现为脑室内和蛛网膜下腔出血，另1例表现为髓内静脉曲张急性血栓形成。这些病例凸显了HHT幼儿中症状性AVF导致严重神经功能损害的可能性。鉴于缺乏关于这些病变真实发病率和自然史的数据，这些病例引发了一个问题，即脊髓成像是否应纳入HHT患者的筛查建议中。
