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.
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
