关键词: I型神经纤维瘤病； 头痛； 儿童

Abstract: Objective To explore the clinical characteristics of neurofibromatosis type Ⅰ(NF1). Methods The clinical data of NF 1 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-T 1 , long T 2 and FLAIR sequence high signal in bilateral basal ganglia, brachial plexus and C 2 - 3 intervertebral foramen. A novel frameshift variation of NF 1 (c. 6177 _ 6183 del, p.Leu 2060 Alafs* 4 ) was identified by whole exome sequence. This variation was considered possible pathogenic according to the ACMG guidelines, and the child was diagnosed as NF 1 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 .

Key words: neurofibromatosis type ; headache; child