Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia
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Focal cerebral arteriopathy includes unifocal or multifocal lesions that are unilateral or bilateral. Large- and/or medium-sized vessels are involved and can be visualized on angiography.
We report a case of cerebral infarction in a 9-year-old Japanese female who presented with a transient ischemic attack. Steno-occlusion involving the distal part of the internal carotid artery, proximal middle cerebral artery, and anterior cerebral artery was observed. Digital subtraction angiography demonstrated a beaded appearance in the cervical portion of the diseased internal carotid artery. Revascularization surgery was performed 45 days after the onset. A new infarction appeared on the other side of the anterior cerebral artery territory 7 months after the first onset. Antiplatelets and vasodilators were administered, and no progression was observed during 18 months of follow-up. Genetic analysis did not show ring finger protein 213 (RNF213)-related moyamoya disease, and pathological examination revealed no characteristics of fibromuscular dysplasia.
The radiological and genetic features coincided with focal cerebral arteriopathy, which is a distinct entity from fibromuscular dysplasia and RNF213-related moyamoya disease.
KeywordsFocal cerebral arteriopathy RNF213 Moyamoya disease Fibromuscular dysplasia
Compliance with ethical standards
No sources of financial or material support were gained for conducting this study.
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent was obtained from the participant included in this case report.
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