Outpatient Department of Pediatrics, The First Hospital of Jilin University, Changchun, P.R. China.
Br J Neurosurg. 2023 Dec;37(6):1882-1885. doi: 10.1080/02688697.2021.1916433. Epub 2022 Jun 1.
Moyamoya disease (MMD) is an uncommon chronic and occlusive cerebrovascular disorder involving the development of abnormal collateral vessels. This report aimed to describe a Chinese familial case with a rare variant in the RNF213 gene.
The present report presents a rare familial case of MMD involving a heterozygous c.14429G>A variant in and exhibiting different phenotypes.
A 3-year-old Chinese boy and his 10-year-old sister diagnosed severe bilateral MMD, while their mother was diagnosed asymptomatic bilateral MMD, based on the imaging results of magnetic resonance angiography (MRA). The boy mainly showed numbness at left hand accompanied by dysphasia and dyskinesia, while his sister had complex symptoms including dysphasia, dyskinesia at both hands and fatigue of limbs. Muscle force was ranked as left (upper limb/lower limb: 4/3) and right (upper limb/lower limb: 3/4). Genetic testing indicated a heterozygous c.14429G>A variant in in 3 patients. The 3 patients shared the same amino acid substitution of p.Arg4810Lys caused by c.14429G>A. The father of two children also underwent genetic testing for and MRI examination but found normal in all indices.
Genetic testing for is suggested for MMD screening towards family members, and c.14576G>A variant is identified as an important pathogenic mutation with family heritability.
烟雾病（MMD）是一种罕见的慢性闭塞性脑血管疾病，涉及异常侧支血管的形成。本报告旨在描述一例涉及 RNF213 基因罕见变异的中国家族性病例。
本报告介绍了一例罕见的家族性 MMD 病例，涉及 中的杂合 c.14429G>A 变异，并表现出不同的表型。
一名 3 岁男孩和他 10 岁的妹妹被诊断为严重双侧 MMD，而他们的母亲则被诊断为无症状双侧 MMD，这是基于磁共振血管造影（MRA）的影像学结果。男孩主要表现为左手麻木，伴有言语障碍和运动障碍，而他的妹妹则有复杂的症状，包括言语障碍、双手运动障碍和四肢疲劳。肌力评定为左侧（上肢/下肢：4/3）和右侧（上肢/下肢：3/4）。基因检测显示 3 例患者均存在 中的杂合 c.14429G>A 变异。3 例患者共享同一氨基酸替代 p.Arg4810Lys，由 c.14429G>A 引起。两个孩子的父亲也接受了 基因检测和 MRI 检查，但所有指标均正常。
建议对 MMD 患者的家庭成员进行 基因检测，c.14576G>A 变异被确定为具有家族遗传性的重要致病突变。
