Differential Diagnosis of Jakob-Creutzfeldt Disease

Abstract

To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made.Design: Retrospective medical record review.Setting: A specialty referral center of a tertiary academic medical center.Participants: One hundred sixty-three serial patients over a 5.5-year period who ultimately had pathologically proven sCJD. The study used the subset of 97 patients for whom we had adequate medical records.Main Outcome Measures: Other diagnoses considered in the differential diagnosis and types of medical specialties assessing patients with sCJD.Results: Ninety-seven subjects' records were used in the final analysis. The most common disease categories of misdiagnosis were neurodegenerative, autoimmune/ paraneoplastic, infectious, and toxic/metabolic disor-ders. The most common individual misdiagnoses were viral encephalitis, paraneoplastic disorder, depression, vertigo, Alzheimer disease, stroke, unspecified dementia, central nervous system vasculitis, peripheral neuropathy, and Hashimoto encephalopathy. The physicians who most commonly made these misdiagnoses were primary care physicians and neurologists; in the 18% of patients who were diagnosed correctly at their first assessment, the diagnosis was almost always by a neurologist. The mean time from onset to diagnosis was 7.9 months, an average of two-thirds of the way through their disease course.Conclusions: Diagnosis of sCJD is quite delayed. When evaluating patients with rapidly progressive dementia with suspected neurodegenerative, autoimmune, infectious, or toxic/metabolic etiology, sCJD should also be included in the differential diagnosis, and appropriate diagnostic tests, such as diffusion brain magnetic resonance imaging, should be considered. Primary care physicians and neurologists need improved training in sCJD diagnosis.

Three sporadic cases of Creutzfeldt-Jakob disease in China and their clinical analysis

“…MRI is a tool that is increasingly useful in the evaluation and early detection of suspected CJD and excluding other diseases, which may possibly be treatable (31,32). A retrospective study suggested that basal ganglia, subcortical signal intensity changes and cortical ribboning on DWI are the most important imaging markers (33).…”

Metabolic disorders with clinical and radiologic features of sporadic Creutzfeldt-Jakob disease

“…[2][3][4][5]9 Brain MRI is a critical diagnostic tool with higher sensitivity and specificity than traditional biomarkers such as CSF 14-3-3 protein and EEG. 10,11 FLAIR and DWI sequences typically demonstrate hyperintensities involving the cortex, striatum, and/or thalamus.…”

“…At our center, a thorough laboratory evaluation for causes of RPD [4][5][6] was unrevealing. This included erythrocyte sedimentation rate, antinuclear antibody, anti-neutrophil cytoplasmic antibodies (ANCA), rheumatoid factor (RF), paraneoplastic and related antibodies (CV2/CRMP-5, ACh receptor, PCA-Tr, ANNA-3, PCA-2, anti-Hu [ANNA-1], and amphiphysin), antivoltage-gated potassium channel complex [VGKCc] antibody, anti-thyroperoxidase antibody, anti-thyroglobulin antibody (TG), anti-gliadin antibodies, anti-tissue transglutaminase (TTG) antibodies, Lyme antibody, rapid plasma reagin (RPR), and 24-hour urine for heavy metals.…”

Rapidly Progressive Young-Onset Dementias

“…Vascular dementias generally occur in patients who are over 50 years of age and in those with risk factors for vascular disease. 3 …”