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双侧颈内动脉发育不全伴颅面畸形:一例疑似特雷彻·柯林斯综合征病例

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

作者信息

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

机构信息

Department of Neurosurgery, Graduate School of Medical, and Dental Sciences, Kagoshima University, Kagoshima, Kagoshima, Japan.

Department of Neurosurgery, Imamura General Hospital, Kagoshima, Kagoshima, Japan.

出版信息

NMC Case Rep J. 2023 Mar 15;10:55-60. doi: 10.2176/jns-nmc.2022-0267. eCollection 2023.

Abstract

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.

摘要

颈总动脉分叉上方的颈内动脉发育不全或发育不良较为罕见,在普通人群中的发生率低于0.01%。单侧神经嵴病合并单侧颈内动脉发育不全或发育异常已有报道,但双侧颈内动脉发育不良罕见且鲜有报道。在此,我们报告一例伴有双侧颈内动脉发育不良的特雷彻·柯林斯综合征新病例。一名94岁女性因头痛和呕吐就诊。计算机断层扫描显示蛛网膜下腔出血以及双侧颧骨、下颌骨和外耳道发育异常。该患者有严重听力损失和视力障碍。计算机断层扫描血管造影显示双侧颈内动脉发育不良以及颅内动脉多处动脉瘤样改变。我们诊断该患者为破裂的小脑前下动脉动脉瘤并进行了弹簧圈栓塞治疗。患者独特的面部特征与神经嵴病相符,尤其是特雷彻·柯林斯综合征。神经嵴细胞的发育异常可表现为血管异常和颅面畸形。由于特定的颅面畸形,神经嵴病患者在进行血管内治疗和气道管理时需要特别小心。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea6c/10069914/fd406bbea92c/2188-4226-10-0055-g001.jpg

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