Familial moyamoya disease with bilateral presentation associated with the RNF213 c.14429G>A variant: A mother-daughter case report

Abstract

Moyamoya disease (MMD) is a chronic idiopathic cerebrovascular disease with an undetermined etiology, characterized by stenosis or occlusion of the ends of the internal carotid arteries bilaterally and the anterior and middle cerebral arteries at their beginnings, and secondary to the formation of an abnormal vascular network at the base of the skull. We report a 12-year-old Chinese girl diagnosed with cerebral infarction and bilateral MMD. Magnetic resonance imaging (MRI) showed multiple cerebral infarctions, cerebral ischemia, and encephalomalacia. The patient’s mother, a 36-year-old female, who was the biological mother of the 12-year-old girl, presented with left limb weakness 3 years prior and was diagnosed with bilateral MMD. The mother-daughter pairs with MMD were found to be due to a heterozygous variant in the RNF213 gene c.14429G> A. Clinically both had bilateral MMD, and the disease started with lesions on the left limb. After the diagnosis of MMD, mother and daughter were treated with different surgical procedures. Genetic testing for RNF213 is suggested for family member screening.

Conclusion: Genetic testing for RNF213 is suggested for family members of MMD, and c.14429G>A variant is an important hereditary gene mutation.