Ring finger protein 213 유전자검사와 영상추적검사를 통해 확인한 성인 모야모야병
An Adult Moyamoya Disease Confirmed by Ring Finger Protein 213 Gene Test and Radiological Studies
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초록
A 63-year-old female complained of transient dysarthria. MRA was conducted to evaluate this symptom, revealing distalinternal carotid artery occlusion with collateral vessel development, suggesting Moyamoya disease, which had not beendetected in MRA performed 5 years previously. Vascular risk factors and laboratory findings suggested no cardiac orautoimmune diseases. The diameter of stenosis of the middle cerebral artery on high-resolution MRI was 2.11 mm, andgenetic evaluation revealed mutation of the gene encoding ring finger protein 213 (RNF213). High-resolution MRI andgene studies are useful for distinguishing between Moyamoya disease and atherosclerosis.
Abstract
A 63-year-old female complained of transient dysarthria. MRA was conducted to evaluate this symptom, revealing distalinternal carotid artery occlusion with collateral vessel development, suggesting Moyamoya disease, which had not beendetected in MRA performed 5 years previously. Vascular risk factors and laboratory findings suggested no cardiac orautoimmune diseases. The diameter of stenosis of the middle cerebral artery on high-resolution MRI was 2.11 mm, andgenetic evaluation revealed mutation of the gene encoding ring finger protein 213 (RNF213). High-resolution MRI andgene studies are useful for distinguishing between Moyamoya disease and atherosclerosis.
참고문헌 (10)
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