以婴儿痉挛为首发症状的Ⅰ型神经纤维瘤病1例并文献复习  

Neurofibromatosis Type I with Infantile Spasm as Initial Symptom: A Case Report and Literature Review

作　　者：李青 张玉琴[1] 

机构地区：[1]天津市儿童医院神经内科,天津

出　　处：《亚洲儿科病例研究》2019年第3期21-25,共5页Asian Case Reports in Pediatrics

摘　　要：I型神经纤维瘤病是一种常染色体显性遗传病,发病时以婴儿痉挛为首发症状的临床报道罕见,多通过基因检测辅助临床诊断,本病例常规抗癫痫药物治疗效果不明显,改用氨己烯酸后痉挛消失,预后发育状况均较好。Neurofibromatosis type I is an autosomal dominant genetic disease,which is rare in clinical reports with infantile spasm as the initial symptom,and most of them are assisted by gene detection in clinical diagnosis,but the effect of conventional antiepileptic drugs is not obvious.After using vigabatrin,the spasm disappeared and the prognosis was better.

关 键 词：I型神经纤维瘤病 婴儿痉挛 基因突变 

分 类 号：R73[医药卫生—肿瘤]