Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report
Background Moyamoya disease (MMD) is a rare cerebrovascular disease radiologically characterized by progressive bilateral occlusion of the distal portion of the internal carotid artery and compensating collaterals. Herein, we report a case of medullary infarction in a patient with MMD. Case Report W...
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| Format: | Article |
| Language: | English |
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The Korean Neurocritical Care Society
2023-12-01
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| Series: | Journal of Neurocritical Care |
| Subjects: | |
| Online Access: | http://e-jnc.org/upload/pdf/jnc-230043.pdf |
| _version_ | 1827396119313776640 |
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| author | Yoo Jeong Roh Kee Ook Lee Hyun Sook Kim |
| author_facet | Yoo Jeong Roh Kee Ook Lee Hyun Sook Kim |
| author_sort | Yoo Jeong Roh |
| collection | DOAJ |
| description | Background Moyamoya disease (MMD) is a rare cerebrovascular disease radiologically characterized by progressive bilateral occlusion of the distal portion of the internal carotid artery and compensating collaterals. Herein, we report a case of medullary infarction in a patient with MMD. Case Report We present the case of a 54-year-old male with hypertension, hyperlipidemia, and unstable angina with sudden onset dysarthria and ataxia. Diffusion-weighted and T2-weighted images of magnetic resonance imaging showed a high-signal intensity lesion on the right lateral medulla, suggestive of acute infarction. Transfemoral cerebral angiography also demonstrated bilateral middle cerebral artery (MCA) occlusion. Testing of the ring finger protein 213 (RNF213) gene revealed a homozygous p.R4810K variant that was possibly associated with posterior circulation involvement. Conclusion When the MCA is occluded in MMD, there is a possibility that medullary infarction may occur due to the mechanism of increased hemodynamic stress on the anastomotic posterior vessels. |
| first_indexed | 2024-03-08T18:46:09Z |
| format | Article |
| id | doaj.art-7feca1a9cd7d4ef79beea92f297ad91c |
| institution | Directory Open Access Journal |
| issn | 2005-0348 2508-1349 |
| language | English |
| last_indexed | 2024-03-08T18:46:09Z |
| publishDate | 2023-12-01 |
| publisher | The Korean Neurocritical Care Society |
| record_format | Article |
| series | Journal of Neurocritical Care |
| spelling | doaj.art-7feca1a9cd7d4ef79beea92f297ad91c2023-12-29T00:14:35ZengThe Korean Neurocritical Care SocietyJournal of Neurocritical Care2005-03482508-13492023-12-0116211511810.18700/jnc.230043405Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case reportYoo Jeong Roh0Kee Ook Lee1Hyun Sook Kim Department of Neurology, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, Korea Department of Neurology, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, KoreaBackground Moyamoya disease (MMD) is a rare cerebrovascular disease radiologically characterized by progressive bilateral occlusion of the distal portion of the internal carotid artery and compensating collaterals. Herein, we report a case of medullary infarction in a patient with MMD. Case Report We present the case of a 54-year-old male with hypertension, hyperlipidemia, and unstable angina with sudden onset dysarthria and ataxia. Diffusion-weighted and T2-weighted images of magnetic resonance imaging showed a high-signal intensity lesion on the right lateral medulla, suggestive of acute infarction. Transfemoral cerebral angiography also demonstrated bilateral middle cerebral artery (MCA) occlusion. Testing of the ring finger protein 213 (RNF213) gene revealed a homozygous p.R4810K variant that was possibly associated with posterior circulation involvement. Conclusion When the MCA is occluded in MMD, there is a possibility that medullary infarction may occur due to the mechanism of increased hemodynamic stress on the anastomotic posterior vessels.http://e-jnc.org/upload/pdf/jnc-230043.pdfmoyamoya diseasecerebral infarctionposterior cerebral artery |
| spellingShingle | Yoo Jeong Roh Kee Ook Lee Hyun Sook Kim Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report Journal of Neurocritical Care moyamoya disease cerebral infarction posterior cerebral artery |
| title | Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report |
| title_full | Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report |
| title_fullStr | Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report |
| title_full_unstemmed | Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report |
| title_short | Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report |
| title_sort | lateral medullary infarction in a patient with moyamoya disease associated with rnf213 variants a case report |
| topic | moyamoya disease cerebral infarction posterior cerebral artery |
| url | http://e-jnc.org/upload/pdf/jnc-230043.pdf |
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