A Difficult Diagnosis in Emergency Department: Creutzfeldt-Jakob Disease

Introduction: Prion diseases are a group of diseases that affect the human brain tissue and cause characteristic spongiform changes. Creutzfeldt-Jakob Disease (CJD) is the most common type of this group of diseases. The diagnosis of CJD is very difficult particularly in emergency department (ED) settings and is mainly based on the exclusion of the other causes of ongoing mental status changes. Case Report: We present the case of a 77-year-old female as a sporadic CJD patient who was consulted with the preliminary diagnosis of CJD in ED. The patient was brought to ED with complaints of being unable to get out of bed and urinary and fecal incontinence. Remarkable physical findings included poor general condition, the lack of verbal response, oromandibular dystonia, eye opening and flexor responses of upper extremities to painful stimuli, and choreoathetosis. All findings including progressive neurological symptoms, brain magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and electroencephalography (EEG) were considered together, and the patient was diagnosed with CJD. Conclusion: Even if an ED physician could not diagnose CJD in first hand, he/she should keep the level of additional imaging (MRI, CSF analysis, and EEG) and consultation threshold low, particularly in patients with ongoing mental status changes, jerking movements, and dementia.