Literature DB >> 25876583

Unilateral moyamoya phenomenon with a string-of-beads appearance in an elderly patient with the c.14576G>A heterozygous variant of RNF213.

Junya Aoki1, Kensaku Shibazaki, Masaki Ito, Naoki Saji, Junichi Uemura, Kiyohiro Houkin, Kazumi Kimura.   

Abstract

We herein report a case of ischemic stroke in a 69-year-old man with unilateral moyamoya vessels originating from the proximal portion of the left middle cerebral artery. In addition, digital-subtraction angiography demonstrated a string-of-beads-like appearance in the cavernous portion of the left internal carotid artery. A genetic analysis revealed a heterozygous c.14576G>A variant in ring finger protein 213. The patient's younger brother had a history of hemorrhagic stroke and had been diagnosed with moyamoya disease. We finally considered that the unilateral moyamoya vessel and string-of-beads appearance observed in the current case were not simply caused by atherosclerosis, but rather represented symptoms within the moyamoya spectrum.

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Year:  2015        PMID: 25876583     DOI: 10.2169/internalmedicine.54.3534

Source DB:  PubMed          Journal:  Intern Med        ISSN: 0918-2918            Impact factor:   1.271


  1 in total

Review 1.  Role of Ring Finger Protein 213 in Moyamoya Disease.

Authors:  Yong-Gang Ma; Qian Zhang; Le-Bao Yu; Ji-Zong Zhao
Journal:  Chin Med J (Engl)       Date:  2016-10-20       Impact factor: 2.628

  1 in total

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