Rapid contralateral progression of focal cerebral arteriopathy distinguished from RNF213-related moyamoya disease and fibromuscular dysplasia.

Abstract

BACKGROUND:

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.

CASE REPORT:

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.

CONCLUSION:

The radiological and genetic features coincided with focal cerebral arteriopathy, which is a distinct entity from fibromuscular dysplasia and RNF213-related moyamoya disease.

• Authors: Yoshio Araki, Yasushi Takagi, Yohei Mineharu, Hatasu Kobayashi, Susumu Miyamoto, Toshihiko Wakabayashi
• Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (Childs Nerv Syst) Vol. 33 Issue 8 Pg. 1405-1409 (Aug 2017) ISSN: 1433-0350 [Electronic] Germany
• PMID: 28497183 (Publication Type: Case Reports, Journal Article)

Chemical References

• RNF213 protein, human
• Ubiquitin-Protein Ligases
• Adenosine Triphosphatases

Topics

• Adenosine Triphosphatases (genetics)
• Child
• Diffusion Magnetic Resonance Imaging
• Female
• Fibromuscular Dysplasia (complications, diagnostic imaging, genetics)
• Humans
• Magnetic Resonance Angiography
• Middle Cerebral Artery (diagnostic imaging, pathology)
• Moyamoya Disease (complications, diagnostic imaging, genetics)
• Mutation (genetics)
• Ubiquitin-Protein Ligases (genetics)