Ⅰ型神经纤维瘤病并发烟雾综合征1例报告并文献分析

NEUROFIBROMATOSIS TYPEⅠWITH MOYAMOYA SYNDROME:A CASE REPORT AND LITERATURE REVIEW

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NFⅠ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。

Objective To investigate the diagnosis and clinical features of neurofibromatosis typeⅠ(NFⅠ)with moyamoya syndrome in children.Methods The clinical data of a child with NFⅠand 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 NFⅠgene.The boy was diagnosed with NFⅠand 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.