角膜炎·鱼鳞病·耳聋综合征的临床与MR诊断(附1例报告及文献分析)

MR diagnosis of Keratitis Ichthyosis Deafness syndrome

目的:探讨先天性鱼鳞病、感音神经性耳聋、血管化角膜炎的临床、MR表现,深化对本病的认识。方法:报告国内首例经临床确诊的先天性鱼鳞病、感音神经性耳聋、血管化角膜炎的临床、MR表现,并复习文献。结果:本病有三大临床特征,即血管化角膜炎、鱼鳞病、先天性感音神经性耳聋,MR表现小脑发育不良,第四脑室囊状扩大,呈Dandy-Walker’s综合征改变。结论:MR表现Dandy-Walker’s综合征是本病诊断的有力证据。

Objective：To study clinical MR finding of congenital ichthyosiform eruption, sensorineural deafness,vascularizing keratitis and improve understanding of the disease. Methods：To report clinical manifestation and MR findings of the first case of keratitis,ichthyosiform,deafness （KID） syndrome, and review the literature. Results： There were three clinical features about the disease：vascularizing keratitis, ichthyosiform,sensorineural deafness,a malformation of the posterior carebal fossa, a Dandy Walker syndrome was revealed and cerebelar hypoplasia was also presented on MRI. Conclusion：It was useful to find KID syndrome,that presented Dandy-Walker syndrome on MRI.