title: [Creutzfeldt - Jakob presenting with isolated visual symptoms: the Heidenhain variant].
abstract: METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Servicio de Oftalmología, Hospital de Infanta Cristina, Parla, Madrid, España. inesoide@hotmail.com
authors.forename: I
authors.initials: I
authors.lastname: del Barrio-Manso
authors.forename: A
authors.initials: A
authors.lastname: Toribio-García
authors.forename: M
authors.initials: M
authors.lastname: Cordero-Coma
authors.forename: L
authors.initials: L
authors.lastname: Tuñón
authors.forename: E
authors.initials: E
authors.lastname: Baragaño
mesh_terms: D000368:Aged; D000405:Akinetic Mutism / Q000209:etiology / Q000473:pathology; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000737:chemistry / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000145:classification / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D018450:Disease Progression; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006212:Hallucinations / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination; D011328:Prions / Q000032:analysis; D015899:Tomography, Emission-Computed, Single-Photon; D014786:Vision Disorders / Q000209:etiology*; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D011328:Prions