Affordable Access

Access to the full text

Case Report: RNF213 variant and choroidal anastomosis as potential risk factors for early stroke in moyamoya syndrome associated with Down syndrome

Authors
  • Yamamoto, Keisuke1
  • Kaku, Yasuyuki2
  • Koga, Hiroshi1
  • 1 Department of Pediatrics, National Hospital Organization Beppu Medical Center, Beppu , (Japan)
  • 2 Department of Neurosurgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto , (Japan)
Type
Published Article
Journal
Frontiers in Pediatrics
Publisher
Frontiers Media SA
Publication Date
Nov 02, 2023
Volume
11
Identifiers
DOI: 10.3389/fped.2023.1289554
Source
Frontiers
Keywords
Disciplines
  • Pediatrics
  • Case Report
License
Green

Abstract

Introduction Recent 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 description We 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. Conclusion Presence 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.

Report this publication

Statistics

Seen <100 times