Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213
Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213
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DOI：
10.1016/j.jstrokecerebrovasdis.2019.104549
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发表时间：
2020-02-01
影响因子：
2.5
通讯作者：
Houkin, Kiyohiro
中科院分区：
文献类型：
--
作者：
Echizenya, Ikuma;Tokairin, Kikutaro;Houkin, Kiyohiro
环指蛋白（RNF）213是烟雾病（MMD）的易感基因，以双侧颈动脉狭窄为特征。已知病毒感染后的脑血管病表现为类似MMD的血管造影表现，但其发病机制和遗传背景尚不清楚。我们报告一例可逆性脑血管病病毒感染后的儿童患者与RNF 213突变的遗传变异。患者在手足口病后出现严重头痛。发病后2-3周进行的磁共振成像和磁共振血管造影（MRA）显示双侧颈动脉狭窄和左侧壳核陈旧性脑梗死。患者的头痛自发消退，随访MRA显示9个月后动脉狭窄完全自发消退。我们能够通过鉴定RNF 213 c.14576G>A（rs 112735431，p.R4859K）突变来确定血管病的遗传易感性。基于目前的情况下，我们假设RNF 213变异可能发挥重要作用的发病病毒后脑血管病。
Ring finger protein (RNF) 213 is known as a susceptibility gene for moyamoya disease (MMD), which is characterized by bilateral carotid folk stenosis. Cerebral angiopathy after viral infection has been known to present angiographical appearance resembling MMD, however its pathogenesis and genetic background are not well known. We report a case of reversible cerebral angiopathy after viral infection in a pediatric patient with genetic variant of RNF213 mutation. The patient had developed a severe headache after hand, foot, and mouth disease. Magnetic resonance imaging and magnetic resonance angiography (MRA) performed 2-3 weeks after disease onset revealed bilateral carotid folk stenosis and an old cerebral infarction in the left putamen. The patient's headache spontaneously resolved and the follow-up MRA showed a complete spontaneous resolution of the arterial stenosis after 9 months. We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. Based on the present case, we hypothesize that an RNF213 variant might play an important role for the onset of postviral cerebral angiopathy.