• World Neurosurg · Aug 2020

    Case Reports

    De novo development of Moyamoya disease after stereotactic radiosurgery for brain arteriovenous malformation in a patient with RNF213 p.Arg4810Lys (rs112735431): A case report.

    • Seiei Torazawa, Satoru Miyawaki, Yuki Shinya, Mariko Kawashima, Hirotaka Hasegawa, Shogo Dofuku, Hiroki Uchikawa, Taichi Kin, Masahiro Shin, Hirofumi Nakatomi, and Nobuhito Saito.
    • Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
    • World Neurosurg. 2020 Aug 1; 140: 276-282.

    BackgroundReports of cases diagnosed as Moyamoya disease (MMD) after stereotactic radiosurgery (SRS) for arteriovenous malformation (AVM) are extremely rare. In recent years, ring finger protein 213 (RNF213) has been identified as a susceptibility gene of MMD, but the mechanism by which MMD develops remains unclear. Those cases of de novo development of MMD may provide some clues to clarify the mechanism of progression of MMD.Case DescriptionWe report the case of de novo MMD that developed after SRS for AVM. This patient presented with a variant of the RNF213 gene. The intracranial internal carotid artery was not within the irradiation field; therefore it was obvious that the development of MMD was not caused by the direct effect of radiation in the current case study. Moreover, we demonstrated the decrease in velocity in the internal carotid artery prior to the development of MMD using phase-contrast magnetic resonance angiography. Previous studies demonstrated that progression of the pathological condition in the cerebral arteries in response to hemodynamic changes is enhanced in patients with RNF213 variants.ConclusionsOur findings indicate that the changes in the intracranial hemodynamics after SRS for AVM could trigger the de novo onset of MMD in patients with a genetic predisposition for the RNF213 variant.Copyright © 2020 Elsevier Inc. All rights reserved.

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