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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 investigate the clinical manifestations of congenital ichthyosis, sensorineural deafness and vascularized keratitis and to deepen the understanding of the disease. Methods: The first clinically diagnosed cases of congenital ichthyosis, sensorineural deafness, vascularized keratitis in clinical and MR manifestations were reviewed and reviewed. Results: The disease has three major clinical features, vascularized keratitis, ichthyosis, congenital sensorineural deafness, MR showed cerebellar dysplasia, fourth ventricle cystic enlargement, was Dandy-Walker’s syndrome. Conclusion: MR manifests Dandy-Walker’s syndrome as a strong evidence for the diagnosis of this disease.