Department of Neurosurgery, Kanagawa Children's Medical Center, Yokohama, Japan.
Department of Neurosurgery, Yokohama City University, Yokohama, Japan.
Pediatr Neurosurg. 2022;57(5):365-370. doi: 10.1159/000525229. Epub 2022 May 31.
Moyamoya syndrome associated with Williams syndrome is very rare but has been reported to have severe outcomes. Here, we reported a case of Williams syndrome with moyamoya syndrome that was confirmed by the presence of an RNF213 mutation.
A 6-year-old boy with Williams syndrome presented with right hemiparesis induced by hyperventilation. Magnetic resonance angiography and cerebral angiography showed severe stenosis of the bilateral internal carotid arteries and development of moyamoya vessels. Genetic analysis identified a heterozygous c.14576G>A (p.R4859K) mutation in RNF213. Moyamoya syndrome was diagnosed, and bilateral indirect revascularization surgery was conducted without complications and with a good postoperative course. In moyamoya syndrome associated with Williams syndrome, adequate perioperative management of both the moyamoya arteries and the cardiovascular abnormalities is important to prevent complications.
This was the first report on a case in which moyamoya syndrome associated with Williams syndrome was confirmed by the presence of a heterozygous RNF213 mutation. Similar to the workup of moyamoya disease, confirmation of RNF213 mutation in Williams syndrome may be useful in predicting the development of moyamoya syndrome that can lead to severe complications.
与威廉姆斯综合征相关的烟雾病非常罕见，但已有报道称其预后严重。在此，我们报告了一例经 RNF213 突变证实的威廉姆斯综合征合并烟雾病病例。
一名 6 岁男孩患有威廉姆斯综合征，因过度通气导致右侧偏瘫。磁共振血管造影和脑血管造影显示双侧颈内动脉严重狭窄和烟雾病血管形成。基因分析发现 RNF213 存在杂合 c.14576G>A（p.R4859K）突变。诊断为烟雾病，并进行了双侧间接血运重建术，无并发症，术后恢复良好。在与威廉姆斯综合征相关的烟雾病中，充分管理烟雾病血管和心血管异常对于预防并发症非常重要。
这是首例经杂合 RNF213 突变证实的与威廉姆斯综合征相关的烟雾病病例报告。与烟雾病的检查类似，在威廉姆斯综合征中确认 RNF213 突变可能有助于预测可导致严重并发症的烟雾病综合征的发生。
