Palagallo G J, McWilliams S R, Sekarski L A, Sharma A, Goyal M S, White A J
From the Mallinckrodt Institute of Radiology (G.J.P., S.R.M., A.S., M.S.G.)
From the Mallinckrodt Institute of Radiology (G.J.P., S.R.M., A.S., M.S.G.).
AJNR Am J Neuroradiol. 2017 Feb;38(2):383-386. doi: 10.3174/ajnr.A4980. Epub 2016 Nov 10.
Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia.
A retrospective review of brain MRIs from 116 pediatric patients was performed. Each patient was referred from our institution's Hereditary Hemorrhagic Telangiectasia Clinic. Each MRI included a 3D sequence, most frequently MPRAGE. The 3D sequence was evaluated by a neuroradiology fellow, with specific attention to the presence or absence of malformations of cortical development. Positive studies were subsequently reviewed by 2 attending neuroradiologists, who rendered a final diagnosis.
Fourteen of 116 (12.1%) patients were found to have a malformation of cortical development. Among these 14, there were 12 cases of polymicrogyria and 2 cases of bifrontal periventricular nodular heterotopia.
Pediatric patients with hereditary hemorrhagic telangiectasia have a relatively high prevalence of malformations of cortical development, typically perisylvian polymicrogyria.
脑动静脉畸形、脑脓肿和缺血性卒中是遗传性出血性毛细血管扩张症常见的神经学表现。然而，最近报道的数据提示其与皮质发育畸形存在额外关联。本研究的目的是确定遗传性出血性毛细血管扩张症儿科患者群体中皮质发育畸形的患病率。
对116例儿科患者的脑部MRI进行回顾性分析。每位患者均来自本机构的遗传性出血性毛细血管扩张症诊所。每次MRI均包括一个三维序列，最常见的是MPRAGE序列。由一名神经放射科住院医师对三维序列进行评估，特别关注皮质发育畸形的有无。阳性研究随后由2名神经放射科主治医师进行复查，他们做出最终诊断。
116例患者中有14例（12.1%）被发现存在皮质发育畸形。在这14例中，有12例多小脑回和2例双侧额叶脑室周围结节性异位。
遗传性出血性毛细血管扩张症儿科患者中皮质发育畸形的患病率相对较高，典型的是颞叶周围多小脑回。
