NR ASWS
AU Fauquembergue,M.; Tilikete,C.; Perret-Liaudet,A.; Kopp,N.; Krolak-Salmon,P.; Vighetto,A.
TI [Heidenhain's variant of Creutzfeldt-Jakob's disease]
OT Forme de Heidenhain de la maladie de Creutzfeldt-Jakob
QU Revue Neurologique 2005 May; 161(5): 578-81
PT case reports; journal article
AB INTRODUCTION: Creutzfeldt-Jakob's disease has various anatomoclinical presentations including a rare form with preponderant visual signs described by Heidenhain. 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 increased over a period of two months. Addition of neurological symptoms, abnormalities 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 neuroophthalmologic signs. The diagnosis was established by post-mortem examination and immuno-electrophoretic demonstration of type 1 prion protein. CONCLUSION: Heidenhain's form of Creutzfeldt-Jakob's disease highlights the importance of general rules for prevention of iatrogenic hazard during ophthalmological examinations.
MH 14-3-3 Proteins/metabolism; Aged; Creutzfeldt-Jakob Syndrome/*complications/diagnosis/genetics; Electroencephalography; English Abstract; Fatal Outcome; Female; Humans; Immunoelectrophoresis; Magnetic Resonance Imaging; Mutation/physiology; Vision Disorders/diagnosis/*etiology/genetics
AD Unite de Neuro-ophtalmologie et service de Neurologie D, Hospices Civils de Lyon, Hopital Neurologique Pierre-Wertheimer, Bron.
SP französisch
PO Frankreich