Creutzfeldt-Jakob disease (CJD) is a rare but fatal neurodegenerative prion disease. Classic CJD comprises a clinical triad of rapidly progressive dementia, myoclonus, and EEG abnormality. At initial presentation, thi...Creutzfeldt-Jakob disease (CJD) is a rare but fatal neurodegenerative prion disease. Classic CJD comprises a clinical triad of rapidly progressive dementia, myoclonus, and EEG abnormality. At initial presentation, this classic triad is present only in a minority of cases. Visual impairment is one of the predominant manifestations in the course of CJD, especially in Heidenhain variant phenotype. We reported a case presenting with progressive blurred vision, along with other neurological symptoms, who diagnosed as sporadic CJD with cortical blindness in China.展开更多
Introduction.Creutzfeldt-Jakob’s disease has various anatomoclinical present ations including a rare form with preponderant visual signs described by Heidenh ain. In this form, the visual symptoms may be isolated for...Introduction.Creutzfeldt-Jakob’s disease has various anatomoclinical present ations including a rare form with preponderant visual signs described by Heidenh ain. In this form, the visual symptoms may be isolated for a few weeks, leading to multiple ophthalmological examinations. Observation. We report the case of a 75-year-old woman who developed isolated visual disorders which rapidly increa sed over a period of two months. Addition of neurological symptoms, abnormalitie s of EEG and positivity of 14-3-3 protein led to the diagnosis of Creutzfeldt -Jakob’s disease. The patient died 14 months after the first neuroophthalmolog ic signs. The diagnosis was established by post-mortem examination and immuno- electrophoretic demonstration of type 1 prion protein. Conclusion. Heidenhain’s form of Creut zfeldt Jakob’s disease highlights the importance of general rules for preventio n of iatrogenic hazard during ophthalmological examinations.展开更多
文摘Creutzfeldt-Jakob disease (CJD) is a rare but fatal neurodegenerative prion disease. Classic CJD comprises a clinical triad of rapidly progressive dementia, myoclonus, and EEG abnormality. At initial presentation, this classic triad is present only in a minority of cases. Visual impairment is one of the predominant manifestations in the course of CJD, especially in Heidenhain variant phenotype. We reported a case presenting with progressive blurred vision, along with other neurological symptoms, who diagnosed as sporadic CJD with cortical blindness in China.
文摘Introduction.Creutzfeldt-Jakob’s disease has various anatomoclinical present ations including a rare form with preponderant visual signs described by Heidenh ain. In this form, the visual symptoms may be isolated for a few weeks, leading to multiple ophthalmological examinations. Observation. We report the case of a 75-year-old woman who developed isolated visual disorders which rapidly increa sed over a period of two months. Addition of neurological symptoms, abnormalitie s of EEG and positivity of 14-3-3 protein led to the diagnosis of Creutzfeldt -Jakob’s disease. The patient died 14 months after the first neuroophthalmolog ic signs. The diagnosis was established by post-mortem examination and immuno- electrophoretic demonstration of type 1 prion protein. Conclusion. Heidenhain’s form of Creut zfeldt Jakob’s disease highlights the importance of general rules for preventio n of iatrogenic hazard during ophthalmological examinations.
