Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Pediatr Neurol. 2020 Sep;110:49-54. doi: 10.1016/j.pediatrneurol.2020.05.008. Epub 2020 May 25.
We determined the frequency of cerebrovascular malformations in a pediatric cohort with hereditary hemorrhagic telangiectasia.
Retrospective cohort study of 54 children diagnosed with hereditary hemorrhagic telangiectasia at a tertiary care center. All neuroimaging was reviewed to assess for number and types of cerebrovascular malformations and for intracerebral hemorrhage and arterial ischemic stroke. Clinical charts were reviewed for clinical manifestations, genetic mutation, and clinically evident intracerebral hemorrhages and arterial ischemic strokes.
Among 54 children with hereditary hemorrhagic telangiectasia with a median age of 3.5 years (interquartile range 0.4 to 7.9 years) at diagnosis, neuroimaging was performed in 52 (96.3%) at a median age of 5.2 years (interquartile range 1.8 to 9 years). Fourteen of 52 imaged children (26.9%) had cerebrovascular malformations. Cerebrovascular malformations included arteriovenous malformations, arteriovenous fistulas, vein of Galen malformations, and developmental venous anomalies. Six of the 14 children with cerebrovascular malformations (42.9%) had multiple malformations. Three children developed new cerebral arteriovenous malformations over time. Six children (11.1%) had clinically evident intracerebral hemorrhage, arterial ischemic stroke, or transient ischemic attack. The three children with intracerebral hemorrhage presented at young ages (4.3 to 7.7 years).
More than a quarter of children with hereditary hemorrhagic telangiectasia who were imaged had cerebrovascular malformations, and overt stroke occurred in more than 10%. Intracerebral hemorrhages can occur in pediatric hereditary hemorrhagic telangiectasia patients at young ages, and new cerebral arteriovenous malformations may develop over time. Early screening with neuroimaging including neurovascular imaging as well as repeat neuroimaging may be warranted in children with hereditary hemorrhagic telangiectasia.
我们确定了遗传性出血性毛细血管扩张症患儿中脑血管畸形的发生频率。
回顾性队列研究，纳入在一家三级医疗中心确诊为遗传性出血性毛细血管扩张症的 54 名儿童。回顾所有神经影像学检查以评估脑血管畸形的数量和类型，以及颅内出血和动脉性缺血性卒中。查阅临床病历以评估临床表现、基因突变以及临床明显的颅内出血和动脉性缺血性卒中。
54 名遗传性出血性毛细血管扩张症患儿的中位年龄为 3.5 岁（四分位距 0.4 至 7.9 岁），52 名患儿（96.3%）在中位年龄 5.2 岁（四分位距 1.8 至 9 岁）时进行了神经影像学检查。在 52 名接受影像学检查的患儿中，14 名（26.9%）存在脑血管畸形。脑血管畸形包括动静脉畸形、动静脉瘘、Galen 静脉畸形和发育性静脉异常。14 名存在脑血管畸形的患儿中，6 名（42.9%）存在多发畸形。3 名患儿随着时间的推移出现新发脑动静脉畸形。6 名患儿（11.1%）发生明显的颅内出血、动脉性缺血性卒中和短暂性脑缺血发作。3 名颅内出血患儿的年龄较小（4.3 至 7.7 岁）。
接受影像学检查的遗传性出血性毛细血管扩张症患儿中，超过四分之一存在脑血管畸形，超过 10%发生显性卒中。儿童遗传性出血性毛细血管扩张症患者可在年幼时发生颅内出血，且新发脑动静脉畸形可能随时间发展。遗传性出血性毛细血管扩张症患儿可能需要早期进行神经影像学检查（包括神经血管成像）和重复神经影像学检查筛查。
