郭恩玉 李自普

[摘要] 目的 探讨儿童Ⅰ型神经纤维瘤病（NFⅠ）并发烟雾综合征的诊断和临床特点。方法 报告1例NFⅠ并发烟雾综合征病儿的临床资料并复习相关文献。结果 病儿为2岁2月男孩，躯干、四肢皮肤可见13处牛奶咖啡斑，长径大于0.5 cm;颅脑MR示右侧大脑中动脉主干断续显示并侧支血管形成、脑多发动脉狭窄。病儿母亲躯干部可见8处长径大于2.0 cm的牛奶咖啡斑，最大可达10.0 cm。病儿及其母亲基因检测均显示NF Ⅰ基因杂合突变c.5906（exon40）_c.5907（exon40）delAA，氨基酸变异p.Q1969Qfs*7（NM_001042492）。诊断为NFⅠ并发烟雾综合征。结论 出生后发现皮肤牛奶咖啡斑的病儿，应注意神经纤维瘤病的筛查;对于NFⅠ病儿，应定期行颅脑血管成像检查。

[关键词] 神经纤维瘤病1型;脑底异常血管网病;基因检测;病例报告

[中图分类号] R730.264  [文献标志码] B  [文章编号] 2096-5532（2020）02-0245-03

doi：10.11712/jms.2096-5532.2020.56.046 [开放科学（资源服务）标识码（OSID）]

[网络出版] http：//kns.cnki.net/kcms/detail/37.1517.R.20200320.1534.010.html;2020-03-23 12：07：18

[ABSTRACT] Objective To investigate the diagnosis and clinical features of neurofibromatosis type Ⅰ （NFⅠ） with moyamoya syndrome in children.  Methods The clinical data of a child with NFⅠ and moyamoya syndrome were analyzed， and related articles were reviewed.  Results The patient was a boy aged 2 years and 2 months and had 13 milk coffee spots on the skin of the trunk and the extremities， with a diameter of >0.5 cm. Brain MR showed discontinuous main trunk of the right middle cerebral artery， collateral vessel formation， and multiple cerebral artery stenosis. His mother had 8 milk coffee spots with a diameter of > 2.0 cm in the trunk， and the maximum diameter reached 10.0 cm. Gene detection of the boy and his mother revealed a heterozygous mutation， c.5906（exon40）_c.5907（exon40）delAA， and an amino acid mutation， p.Q1969Qfs*7 （NM_001042492）， in the NF Ⅰ gene. The boy was diagnosed with NFⅠ and moyamoya syndrome.  Conclusion The screening for neurofibromatosis should be performed for children with milk coffee spots after birth， and brain angiography should be performed regularly for children with NFⅠ.

[KEY WORDS] neurofibromatosis 1; moyamoya disease; genetic testing; case reports

Ⅰ型神经纤维瘤病（NFⅠ）是一种并不罕见的常染色体显性遗传性疾病，可累及神经系统、内分泌系统、运动系统等[1]。NFⅠ累及血管者国内外报道较少。MAVANI等[2]总结NFⅠ血管病变的发生率仅为6%，尤其是NFⅠ并发烟雾综合征（MMS）者仅有个案报道[3-4]。NFⅠ病人血管病变可发生于每个年龄段，儿童病人极易被漏诊[5]。本院收治1例2岁2月NFⅠ病儿，颅脑MR检查发现烟雾病，确诊为NFⅠ并发MMS，现结合文献分析报告如下。

1 病例报告

病儿，男，2岁2月。因“发热2 h、抽搐1次”入院。病儿皮肤散在牛奶咖啡斑，以躯干部显著，无自觉症状，未给予处理。病儿系试管婴儿（选用精子库精子）。病儿母亲G1P1。病儿出生体质量2.9 kg，3个月时抬头，4月龄时翻身，6月龄时可坐，11月龄时可站立，1岁时独立行走;但目前仅会喊“妈妈”，不能喊出物品名字，可有交流性情绪活动;可双脚跳，能拾起地面物品。病儿……