永存三叉动脉：CHARGE 综合征的一种新的影像学发现。
Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome.
机构信息
From the Department of Radiology (A.S., P.T., S.E.J.C.), Guy's and St. Thomas' NHS Foundation Trust, London, UK
Department of Neuroradiology (A.S., S.E.J.C.), King's College Hospital NHS Foundation Trust, London, UK.
出版信息
AJNR Am J Neuroradiol. 2021 Oct;42(10):1898-1903. doi: 10.3174/ajnr.A7240. Epub 2021 Aug 5.
BACKGROUND AND PURPOSE
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness (CHARGE) syndrome is an autosomal dominant genetic disorder with evolving clinical diagnostic criteria. Recently, a number of additional anomalies have been described in this syndrome, which may aid in early diagnosis, particularly in incomplete phenotypes or atypical cases. The persistent trigeminal artery is an embryonic carotid-vertebral anastomosis, rarely seen in the healthy population, with a reported prevalence of 0.4%. Because we had observed the persistent trigeminal artery in patients with CHARGE syndrome, this study aimed to explore the prevalence of the persistent trigeminal artery in this syndrome.
MATERIALS AND METHODS
A retrospective study was performed at our tertiary center. MR imaging studies, clinical records, and genetic results were reviewed for patients diagnosed with CHARGE syndrome between 2006 and 2019. The prevalence of the persistent trigeminal artery in patients with CHARGE syndrome was recorded and compared with other established diagnostic criteria.
RESULTS
Twenty-five patients with CHARGE syndrome were included. The persistent trigeminal artery was demonstrated on MR imaging in 14/25 (56%) patients and was seen more frequently than 4 of 9 other established diagnostic criteria in our cohort. When individual major or minor diagnostic criteria were absent, the persistent trigeminal artery was still demonstrated on MR imaging in 52%-67% of these patients with CHARGE syndrome.
CONCLUSIONS
The prevalence of the persistent trigeminal artery in CHARGE syndrome of 56% is higher than that of some other established diagnostic criteria and much higher than that in the general population. The persistent trigeminal artery may be a useful addition to the expanding phenotype of CHARGE syndrome, supplementing other diagnostic criteria. Radiologists should be aware of this novel finding demonstrable on MR imaging.
背景与目的
眼缺损、心脏缺陷、后鼻孔闭锁、生长和/或发育迟缓、生殖和/或泌尿系统异常、耳部异常和耳聋（CHARGE）综合征是一种常染色体显性遗传疾病，具有不断演变的临床诊断标准。最近，该综合征中描述了许多其他异常，这可能有助于早期诊断，特别是在不完全表型或非典型病例中。永存三叉动脉是一种胚胎颈动脉-椎动脉吻合，在健康人群中很少见，报道的发病率为 0.4%。因为我们在 CHARGE 综合征患者中观察到永存三叉动脉，所以本研究旨在探讨该综合征中永存三叉动脉的患病率。
材料与方法
在我们的三级中心进行了一项回顾性研究。对 2006 年至 2019 年间诊断为 CHARGE 综合征的患者的磁共振成像（MR）研究、临床记录和遗传结果进行了回顾性研究。记录 CHARGE 综合征患者永存三叉动脉的患病率，并与其他已建立的诊断标准进行比较。
结果
共纳入 25 例 CHARGE 综合征患者。14/25（56%）例患者的 MR 成像上显示永存三叉动脉，比我们队列中 9 个其他已建立的诊断标准中的 4 个更常见。当个别主要或次要诊断标准缺失时，这些 CHARGE 综合征患者中仍有 52%-67%的患者在 MR 成像上显示永存三叉动脉。
结论
CHARGE 综合征中永存三叉动脉的患病率为 56%，高于一些其他已建立的诊断标准，也远高于普通人群。永存三叉动脉可能是 CHARGE 综合征扩展表型的有用补充，补充了其他诊断标准。放射科医生应意识到这一可在 MR 成像上显示的新发现。
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