以头痛为主要表现的Ⅰ型神经纤维瘤病1例报告

Neurofibromatosis typeⅠpresenting with recurrent headache:a case report

目的探讨Ⅰ型神经纤维瘤病(NF1)的临床特征。方法回顾分析1例以头痛为主要临床表现的NF1患儿的临床资料,并结合文献复习进行讨论。结果患儿,男,10岁1个月,因反复头痛1年就诊。患儿躯体散在浅褐色斑块及多发触痛阳性的硬结;头颅及全脊柱磁共振成像示双侧基底节区、臂丛神经走行区及C2-C3椎间孔处呈等T1长T2、Flair序列高信号影。基因检测显示患儿有源自父亲的杂合变异c.6177_6183del(p.Leu2060Alafs*4),结合患儿临床表现及家系情况,明确该变异为患儿的致病原因。结论NF1临床表现多样,影像学及基因检测有助诊断。

Objective To explore the clinical characteristics of neurofibromatosis typeⅠ(NF 1).Methods The clinical data of NF1 in a child with headache as the main clinical presentation were analyzed,and the relevant literatures were reviewed.Results An aged 10 years and 1 month old boy was admitted to the hospital due to intermittent headache for one year.The physical examination showed several café-au-lait macules and tenderness positive multiple sclerosis on the body.MRI of skull and whole spine showed iso-T1,long T2 and FLAIR sequence high signal in bilateral basal ganglia,brachial plexus and C2-3 intervertebral foramen.A novel frameshift variation of NF1(c.6177_6183del,p.Leu 2060Alafs*4)was identified by whole exome sequence.This variation was considered possible pathogenic according to the ACMG guidelines,and the child was diagnosed as NF1 combined with clinical manifestations and his family history.Conclusions NF 1 is autosomal dominant and has various clinical manifestations.Imaging examination and genetic test can help its diagnosis when the clinical symptoms are atypical.The newly discovered gene variation provides more reference for the related gene variation spectrum of NF 1.