Rare RNF213 variant in adolescent with moyamoya disease.

ABSTRACT:

Introduction

Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810K variant in the RNF213 gene has been identified in 95% of patients with familial moyamoya disease.

Case report

We present the case of a 15-year-old adolescent girl who presented with chief complaints of dysgraphia, lack of coordination in the right hand, with two months of evolution. Cerebral magnetic resonance imaging revealed several ischemic lesions with different rates of evolution and magnetic resonance angiography showed multiple subocclusive stenoses. In the study of the se

SUBMITTER: Cardoso I 

PROVIDER: S-EPMC10364026 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature