Resumo

BARRIO-MANSO, I. del et al. Creutzfeldt - Jakob presenting with isolated visual symptoms: the Heidenhain variant. Arch Soc Esp Oftalmol [online]. 2010, vol.85, n.10, pp.341-344. ISSN 0365-6691.

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.

Palavras-chave : Creutzfeldt-Jakob disease; Heidenhain variant; Spongiform encephalopathy; Prion protein; Visual acuity loss; Visual function.

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