Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation Sakuma T, Watanabe S, Ouchi A, Sakanishi Y, Mizota A, Ebihara N. Three Cases of Creutzfeldt-Jakob Disease with Visual Disturbances as Initial Manifestation. Case Rep Ophthalmol. 2019 Oct 23;10(3):349-356. doi: 10.1159/000503274. PMID: 31762767; PMCID: PMC6873069

This article was of interest after I had a patient with hereditary CJD.  A 52 year-old female who presented with mild difficulties focussing, fatigue and no other ophthalmology features found by our neuro-ophthalmologist, including visual fields. She worked as an administrator in a GP practice.  She felt she was being bullied at work, and she described that sometimes her colleague on her left would “disappear” however joked that she preferred to being able to see her colleague at times due to the workplace environment she experienced.

Planned review in 2 months, with caution if anything changes see GP or ED. This patient did not return for their review and we investigated into her non-attendance.

We discovered, she had presented to ED three times with episodes of “seizures”.  At 3rd presentation patient was catatonic and diagnosed with hereditary autosomal dominant CJD. 

It’s my first case (that I’m aware) of seeing CJD.  Highlighting again the importance of listening carefully to patients and documenting their comments well, no matter how flippant they may seem to the patient.

This article presents 3 cases of the more common heidenhain variant of creutzfeldt–jakob disease. 

Article Here!