Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome
IntroductionRecent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding.Case descriptionWe report herein the case of a boy with Down syndrome and...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1289554/full |
| _version_ | 1797641124249075712 |
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| author | Keisuke Yamamoto Yasuyuki Kaku Hiroshi Koga |
| author_facet | Keisuke Yamamoto Yasuyuki Kaku Hiroshi Koga |
| author_sort | Keisuke Yamamoto |
| collection | DOAJ |
| description | IntroductionRecent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding.Case descriptionWe report herein the case of a boy with Down syndrome and moyamoya syndrome. Exome sequencing identified a heterozygous RNF213 R4810K variant. After ischemic stroke occurred at 9 years old, indirect surgical revascularization was performed for the left cerebral hemisphere and improved ischemic symptoms and cerebral hypoperfusion, while the left choroidal anastomosis remained. At 13 years old, he presented with left thalamic hemorrhage attributed to the anterior choroidal artery, with rebleeding observed four days after the initial hemorrhage under strict blood pressure control. The patient was discharged without neurological deficits 20 days after the hemorrhagic stroke.ConclusionPresence of an RNF213 variant and choroidal anastomosis may represent risk factors for cerebral hemorrhage in patients with Down syndrome and moyamoya syndrome, as well as in patients with moyamoya disease. |
| first_indexed | 2024-03-11T13:41:03Z |
| format | Article |
| id | doaj.art-189632c8769c49318e9e641ca437d798 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-11T13:41:03Z |
| publishDate | 2023-11-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-189632c8769c49318e9e641ca437d7982023-11-02T12:13:11ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-11-011110.3389/fped.2023.12895541289554Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndromeKeisuke Yamamoto0Yasuyuki Kaku1Hiroshi Koga2Department of Pediatrics, National Hospital Organization Beppu Medical Center, Beppu, JapanDepartment of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, JapanDepartment of Pediatrics, National Hospital Organization Beppu Medical Center, Beppu, JapanIntroductionRecent studies have suggested associations between RNF213 variants and the formation of periventricular anastomosis among patients with moyamoya disease, leading to early onset of cerebral hemorrhage and rebleeding.Case descriptionWe report herein the case of a boy with Down syndrome and moyamoya syndrome. Exome sequencing identified a heterozygous RNF213 R4810K variant. After ischemic stroke occurred at 9 years old, indirect surgical revascularization was performed for the left cerebral hemisphere and improved ischemic symptoms and cerebral hypoperfusion, while the left choroidal anastomosis remained. At 13 years old, he presented with left thalamic hemorrhage attributed to the anterior choroidal artery, with rebleeding observed four days after the initial hemorrhage under strict blood pressure control. The patient was discharged without neurological deficits 20 days after the hemorrhagic stroke.ConclusionPresence of an RNF213 variant and choroidal anastomosis may represent risk factors for cerebral hemorrhage in patients with Down syndrome and moyamoya syndrome, as well as in patients with moyamoya disease.https://www.frontiersin.org/articles/10.3389/fped.2023.1289554/fullcerebrovascular accidentcollateral circulationmoyamoya diseasetrisomy 21ubiquitin-protein ligases |
| spellingShingle | Keisuke Yamamoto Yasuyuki Kaku Hiroshi Koga Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome Frontiers in Pediatrics cerebrovascular accident collateral circulation moyamoya disease trisomy 21 ubiquitin-protein ligases |
| title | Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome |
| title_full | Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome |
| title_fullStr | Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome |
| title_full_unstemmed | Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome |
| title_short | Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome |
| title_sort | case report rnf213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with down syndrome |
| topic | cerebrovascular accident collateral circulation moyamoya disease trisomy 21 ubiquitin-protein ligases |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1289554/full |
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