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- W2039779620 abstract "Presentamos el caso de una mujer de 67 años con disminución de agudeza visual bilateral que fue diagnosticada de enfermedad de Creutzfeldt-Jakob esporádico en su variante Heidenhain. No presentaba antecedentes de interés. La paciente falleció tres meses después del inicio del cuadro. La variante Heidenhain de la enfermedad de Creutzfeldt-Jakob esporádico debe sospecharse en todo paciente aquejado de alteraciones visuales y examen oftalmológico inespecífíco, que experimente deterioro cognitivo posterior. Es necesario un examen neurológico completo que incluya electroencefalograma y resonancia magnética. Estos pacientes comparten un mismo genotipo (codón 129 MM en gen PRNP) asociado a un curso clínico característico. We report the case of a 67 year old female complaining of decreased vision and diagnosed with the Heidenhain variant of sporadic Creutzfeldt-Jakob disease. Her past medical history was unremarkable. She died less than three months after the onset. The Heidenhain variant of sporadic Creutfeld-Jakob disease should be suspected in patients suffering from early visual disturbances, unremarkable ophthalmic examination, and subsequent rapid decline of their cognitive function. A complete neurological exam including electroencephalogram recordings and magnetic resonance is mandatory. These patients share a common genotype (PRNP codon 129 MM) associated with a clinically typical disease course." @default.
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- W2039779620 date "2010-10-01" @default.
- W2039779620 modified "2023-09-26" @default.
- W2039779620 title "Creutzfeldt - Jakob con debut oftalmológico: la variante Heidenhain" @default.
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- W2039779620 doi "https://doi.org/10.1016/j.oftal.2010.09.014" @default.
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