The Heidenhain variant of Creutzfeldt-Jakob disease – two patients initially misdiagnosed with dissociative disorder

Abstract

Summary Background: The Heidenhain variant of sporadic Creutzfeldt-Jakob disease is characterized by prominent visual complaints that last in isolation for some weeks and are often misdiagnosed until rapid cognitive decline with suggestive neurological symptoms appear. The treatment is only symptomatic, but correct diagnosis established at the time of visual symptom isolation helps to avoid needless diagnostic or treatment procedures and may give time to patients and their families to prepare for the worst. Case Report: We report on 2 cases based on available medical documentation. Written informed consents for publication were obtained from the patients’ families after the patients’ deaths. We report on the cases of 2 men with sporadic Creutzfeldt-Jakob disease first manifested with visual symptoms in which ophthalmological and neurological background was excluded and misdiagnoses of dissociative disorder were made. Further diagnosis in a psychiatry ward suggested probable sporadic Creutzfeldt-Jakob disease, which was confirmed at postmortem examination. Conclusions: Although visual symptoms are listed in the World Health Organization diagnostic criteria for sporadic Creutzfeldt-Jakob disease, initial symptoms can be vague enough to be misdiagnosed even by neurologists. We conclude that in visual disturbances in which ophthalmological and neurological background is at first excluded, a differential diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) should be considered. In patients with a diagnosis of visual dissociative disturbances, the Heidenhain variant of sCJD should be considered in the differential diagnosis. Repeated EEG in patients with visual disturbances of unknown cause can detect abnormalities suggestive of sporadic Creutzfeldt-Jakob disease.