Carpenter Candice D, Linscott Luke L, Leach James L, Vadivelu Sudhakar, Abruzzo Todd
Department of Neurosurgery, The Ohio State Wexner Medical Center, Columbus, OH, USA.
Department of Radiology, Primary Children's Hospital, 100 Mario Capecchi Dr., Salt Lake City, UT, 84113, USA.
Pediatr Radiol. 2018 Apr;48(4):602-608. doi: 10.1007/s00247-017-4043-2. Epub 2018 Jan 23.
Alagille syndrome is a pediatric multisystem disease with increased prevalence of cerebrovascular disease. The spectrum of cerebrovascular disease in Alagille syndrome includes cerebral aneurysms, moyamoya arteriopathy and dolichoectasia. The prevalence of cerebrovascular disease in Alagille syndrome varies widely in the literature.
To determine the prevalence of cerebrovascular disease in our institution's Alagille patient population by employing a full primary review of all available neuroimaging.
An institutional review board-approved retrospective review of all Alagille syndrome patients seen at a tertiary care children's hospital from January 2000 to January 2014 was performed. All neuroimaging studies were reviewed for arterial or venous abnormalities. The prevalence of arterial and venous abnormalities was calculated and clinical outcomes were determined.
Fifty-two patients with Alagille syndrome ranging in age from 11 months to 27 years were studied. Nineteen (37%) had dedicated vascular neuroimaging. Six (32%) had cerebral arterial disease, 4 with dolichoectasia, 3 with aneurysm(s) and 2 with moyamoya arteriopathy. Three of the four patients with dolichoectasia had associated aneurysm(s). Venous anomalies were present in 4 (21%) patients. One patient with moyamoya arteriopathy underwent revascularization procedures. No deaths were attributable to cerebrovascular disease.
Cerebral vasculopathy is an important feature of Alagille syndrome and includes dolichoectasia, cerebral aneurysms and moyamoya arteriopathy. The high prevalence identified in our study suggests noninvasive vascular neuroimaging screening should be performed in this patient population. In addition to cerebral arterial abnormalities, alterations of venous development may be a feature of Alagille syndrome.
阿拉吉列综合征是一种儿科多系统疾病，脑血管疾病的患病率增加。阿拉吉列综合征中的脑血管疾病谱包括脑动脉瘤、烟雾病样动脉病变和动脉扩张。文献中阿拉吉列综合征中脑血管疾病的患病率差异很大。
通过对所有可用神经影像学进行全面的初步审查，确定本机构阿拉吉列患者群体中脑血管疾病的患病率。
对2000年1月至2014年1月在一家三级儿童医院就诊的所有阿拉吉列综合征患者进行了机构审查委员会批准的回顾性研究。对所有神经影像学研究进行动脉或静脉异常审查。计算动脉和静脉异常的患病率并确定临床结果。
研究了52例年龄在11个月至27岁之间的阿拉吉列综合征患者。19例（37%）进行了专门的血管神经影像学检查。6例（32%）患有脑动脉疾病，4例为动脉扩张，3例有动脉瘤，2例为烟雾病样动脉病变。4例动脉扩张患者中有3例伴有动脉瘤。4例（21%）患者存在静脉异常。1例烟雾病样动脉病变患者接受了血运重建手术。没有死亡归因于脑血管疾病。
脑血管病变是阿拉吉列综合征的一个重要特征，包括动脉扩张、脑动脉瘤和烟雾病样动脉病变。我们研究中确定的高患病率表明，应在该患者群体中进行无创血管神经影像学筛查。除了脑动脉异常外，静脉发育改变可能是阿拉吉列综合征的一个特征。
