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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japan Neurosurgical Society
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069914/ https://www.ncbi.nlm.nih.gov/pubmed/37020743 http://dx.doi.org/10.2176/jns-nmc.2022-0267 |
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author | MAKINO, Ryutaro YAMAHATA, Hitoshi MACHIDA, Akari TANIGUCHI, Ayumi HANAYA, Ryosuke |
author_facet | MAKINO, Ryutaro YAMAHATA, Hitoshi MACHIDA, Akari TANIGUCHI, Ayumi HANAYA, Ryosuke |
author_sort | MAKINO, Ryutaro |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10069914 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | The Japan Neurosurgical Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-100699142023-04-04 Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome MAKINO, Ryutaro YAMAHATA, Hitoshi MACHIDA, Akari TANIGUCHI, Ayumi HANAYA, Ryosuke NMC Case Rep J Case Report 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. The Japan Neurosurgical Society 2023-03-15 /pmc/articles/PMC10069914/ /pubmed/37020743 http://dx.doi.org/10.2176/jns-nmc.2022-0267 Text en © 2023 The Japan Neurosurgical Society https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives International License. |
spellingShingle | Case Report MAKINO, Ryutaro YAMAHATA, Hitoshi MACHIDA, Akari TANIGUCHI, Ayumi HANAYA, Ryosuke Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title | Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title_full | Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title_fullStr | Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title_full_unstemmed | Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title_short | Bilateral Internal Carotid Artery Hypoplasia with Craniofacial Anomalies: A Case of Suspected Treacher Collins Syndrome |
title_sort | bilateral internal carotid artery hypoplasia with craniofacial anomalies: a case of suspected treacher collins syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069914/ https://www.ncbi.nlm.nih.gov/pubmed/37020743 http://dx.doi.org/10.2176/jns-nmc.2022-0267 |
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