双侧颈内动脉发育不全伴颅面异常:1例疑似导管柯林斯综合征。

Ryutaro Makino, Hitoshi Yamahata, Akari Machida, Ayumi Taniguchi, Ryosuke Hanaya
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摘要

颈分岔以上的颈内动脉发育不全或发育不全是罕见的,在一般人群中发生率不到0.01%。单侧神经嵴病变合并单侧颈内动脉发育不全或发育不全已经有报道,但双侧颈内动脉发育不全是罕见的,几乎没有报道。在此,我们报告一例新病例Treacher Collins综合征并发双侧颈内动脉发育不全。94岁女性,主诉头痛和呕吐。计算机断层扫描显示蛛网膜下腔出血,双侧颧骨、下颌骨和外耳道发育不良。患者有严重的听力损失和视力障碍。ct血管造影显示双侧颈内动脉发育不全及颅内动脉多发动脉瘤样改变。我们诊断病人为小脑前下动脉瘤破裂,并进行了线圈栓塞术。患者独特的面部特征符合神经病变,尤其是Treacher Collins综合征。神经嵴细胞发育异常可表现为血管异常和颅面畸形。由于特殊的颅面异常,神经病变病例需要特别注意血管内治疗和气道管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome.

Internal carotid artery aplasia or hypoplasia above the cervical bifurcation is rare, occurring in less than 0.01% of the general population. Unilateral neurocristopathy complicated by unilateral internal carotid artery agenesis or hypogenesis has been reported, but bilateral internal carotid artery hypoplasia is rare and scarcely reported. Herein, we report a novel case of Treacher Collins syndrome complicated by bilateral internal carotid artery hypoplasia. A 94-year-old woman presented with complaints of headache and vomiting. Computed tomography revealed a subarachnoid hemorrhage and dysplasia of the bilateral zygoma, mandible, and external auditory meatus. The patient had severe hearing loss and visual impairment. Computed tomography angiography revealed bilateral internal carotid artery hypoplasia and multiple aneurysmal changes in the intracranial arteries. We diagnosed the patient with a ruptured anterior inferior cerebellar artery aneurysm and performed coil embolization. The patient's unique facial features were consistent with neurocristopathy, especially Treacher Collins syndrome. Developmental anomalies of neural crest cells can present as vascular abnormalities and craniofacial malformations. Special care is required for endovascular treatment and airway management in cases of neurocristopathy because of the specific craniofacial anomalies.

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