儿童2型神经纤维瘤并肝豆状核变性一例报告并文献复习

Neurofibromatosis Type 2 with Hepatolenticular Degeneration Combined in A Child:A Case Report with Literature Review

目的探讨1例2型儿童神经纤维瘤并肝豆状核变性的临床特点及基因突变情况。方法收集分析2型神经纤维瘤并肝豆状核变性患儿的临床资料及基因结果。结果患儿,男,5岁11个月龄,因不自主左眼睑下垂4天就诊,既往有眼球震颤、左侧内斜和视力下降。DNA测序显示ATP7B基因存在复合杂合突变,该变异为已知致病突变,其中16号外显子上的c.3443T>C错义突变,遗传自表型正常母亲;12号外显子上的c.2804C>T错义突变,遗传自表型正常父亲。NF2基因存在c.1009C>T(p.Gln337*)无义突变,该变异未见文献报道。结论确诊了1例2型神经纤维瘤并肝豆状核变性儿童,丰富了人类基因突变数据库,同时临床医生需提高对基因报告解读的重视和认识。

Objective To explore the clinical and gene mutation characteristics of Neurofibromatosis type 2 combined with Hepatolenticular degeneration in a child.Methods Clinical general data and genetic results were collected and analyzed.Results A 5-years and 11 months old boy presented with 4 day of sinvoluntary left eyelid ptosis.He had a history of nystagmus,left entrytropism,and impaired vision..DNA sequencing revealed complex heterozygous mutation in ATP7B gene,which is a known pathogenic mutation.The c.3443T>C missense mutation in Exon16,inherited from the phenotypically normal mother.And the c.2804C>T missense mutation in Exon12,inherited from the phenotypically normal father.NF2 gene has c.1009C>T(P.glin 337*)nonsense mutation,which has not been reported in literature.Conclusion The diagnosis of a child with type 2 neurofibroma complicated with hepatomegaly has enriched the human gene mutation database.While clinicians need to increase their attention and awareness of the interpretation of gene reports.