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Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213

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Title: Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213
Authors: Echizenya, Ikuma Browse this author
Tokairin, Kikutaro Browse this author
Kawabori, Masahito Browse this author →KAKEN DB
Kazumata, Ken Browse this author →KAKEN DB
Houkin, Kiyohiro Browse this author →KAKEN DB
Keywords: Cerebral angiopathy
moyamoya disease
hand, foot and mouth disease
viral infection
Issue Date: Feb-2020
Publisher: Elsevier
Journal Title: Journal of stroke & cerebrovascular diseases
Volume: 29
Issue: 2
Start Page: 104549
Publisher DOI: 10.1016/j.jstrokecerebrovasdis.2019.104549
PMID: 31818681
Abstract: Ring finger protein (RNF) 213 is known as a susceptibility gene for moyamoya disease (MMD), which is characterized by bilateral carotid folk stenosis. Cerebral angiopathy after viral infection has been known to present angiographical appearance resembling MMD, however its pathogenesis and genetic background are not well known. We report a case of reversible cerebral angiopathy after viral infection in a pediatric patient with genetic variant of RNF213 mutation. The patient had developed a severe headache after hand, foot, and mouth disease. Magnetic resonance imaging and magnetic resonance angiography (MRA) performed 2-3 weeks after disease onset revealed bilateral carotid folk stenosis and an old cerebral infarction in the left putamen. The patient's headache spontaneously resolved and the follow-up MRA showed a complete spontaneous resolution of the arterial stenosis after 9 months. We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. Based on the present case, we hypothesize that an RNF213 variant might play an important role for the onset of postviral cerebral angiopathy.
Rights: © 2019. This manuscript version is made available under the CC-BY-NC-ND 4.0 license
Type: article (author version)
Appears in Collections:保健科学院・保健科学研究院 (Graduate School of Health Sciences / Faculty of Health Sciences) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 宝金 清博

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