Visual symptoms in the presentation of Creutzfeldt-Jakob disease.
We describe a 68-year-old man with a previous history of neurosurgical repair of a skull fracture, who presented to the ophthalmology clinic with progressive visual decline. His initial visual acuity was 6/30 in the right eye and 6/48 in the left, and over 2 weeks this progressed to hand movements in both eyes. No ocular abnormalities were identified. He was noted to be increasingly confused and a subsequent MRI showed extensive bilateral posterior cortical changes consistent with cytotoxic oedema. An electroencephalogram was suggestive of encephalopathy, particularly involving the occipital lobe. He was diagnosed with the Heidenhain variant of Creutzfeldt-Jakob disease (CJD), confirmed by a positive cerebrospinal fluid 14-3-3 protein. Classically, patients with CJD present with rapidly progressive cognitive decline, ataxia and myoclonus. However, visual symptoms are a common and perhaps underrecognised manifestation of CJD. Patients can present with isolated visual symptoms which precede cognitive decline by weeks due to predominantly occipital lobe disease. This presentation is classified as the Heidenhain variant of CJD.
Department of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Private Bag 92019, Auckland, New Zealand.
Aaron
A
Wong
Department of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Private Bag 92019, Auckland, New Zealand.
Kaliopy
K
Matheos
Department of Ophthalmology, Faculty of Medical and Health Sciences, The University of Auckland, Private Bag 92019, Auckland, New Zealand. Electronic address: h.daneshmeyer@auckland.ac.nz.
Helen V
HV
Danesh-Meyer
D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004569:Electroencephalography; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D014786:Vision Disorders / Q000175:diagnosis* / Q000209:etiology*
Creutzfeldt–Jakob disease; Heidenhain variant; Neurosurgery; Visual symptoms