ICNC Abstracts, ICNC 2018

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RNF213 mutation in child with DMD carrier combined with Moyamoya disease
Ji Yoon Han, Yun Tae Lee

Last modified: 2018-09-09


Moyamoya disease (MMD) is a relatively common etiology of pediatric strokes which might lead to irreversible and devastating neurological deficits and intellectual disabilities if left untreated. Here, we describe a case of MMD with Duchenne muscular dystrophy (DMD) carrier who showed RNF213 gene mutation. 17-year-old female, presented with tingling sensation of both hands and low legs and myalgia for a week after exercise. She was diagnosed DMD asymptomatic carrier at age of 10. After two months on initial visit, another symptom occurred as TIA associated with weakness and numbness of the both hand at age 17. On her admission to the neurosurgical clinic, neurologic examination results were normal. Brain MRI/MRA confirmed occlusion of both internal carotid artery (ICA) terminal portion with prominent moyamoya vessels and leptomeningeal collaterals. She underwent successful encepha-duro-arterio-synangiosisi with symptomatic reduction. Her post-operative course was uneventful. She remains mild tingling sensation on both hands after working with normal cognitive academic performance after 2 years. DMD gene study detected pathologic variant (c.9935_9945delAG(p.glu3318valfs*15), heterozytous). RNF213 gene analysis reported missense mutation (c.1449G>A(p.Arg4810Lys)). The c.14429G>A (p.R4810K) variant was revealed to have the ischemic-type MMD in the Chinese Han population. The c.14429G>A (p.R4810K) allele of RNF213 is significantly related with Korean patients with MMD. Kim et al suggested that genetic variant can be a good biomarker for early-onset MMD or unstable MMD with cerebral infarction, which needs early detection and revasculization management.Comprehensive genetic analysis of RNF213 is required to identify whether other RNF213 variants are significant in the development of MMD.


Moyamoya disease; RNF213

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