Creutzfeldt - Jakob presenting with isolated visual symptoms: The Heidenhain variant
Servicio de Oftalmología, Hospital de Infanta Cristina, Parla, Madrid, España.Archivos de la Sociedad Espanola de Oftalmologia 10/2010; 85(10):341-4. DOI: 10.1016/S2173-5794(10)70056-6
CLINICAL CASE: 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. DISCUSSION: 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.