CJD mimics and chameleons

Abstract

Rapidly progressive dementia mimicking Creutzfeldt–Jakob disease (CJD) is a relatively rare presentation but a rewarding one to become familiar with, as the potential diagnoses range from the universally fatal to the completely reversible. Patients require urgent decisions about assessment and investigation and have quickly evolving needs for treatments and support, through symptom management and end-of-life care in most cases. We have based this pragmatic review on the experiences of a specialist prion referral centre in the UK, which, unsurprisingly, is strongly biased towards seeing patients with CJD. Cases eventually proven not to have prion disease might be described as ‘CJD-mimics’; being referred from UK neurologists, these are the most challenging cases. CJD in its classical presentation is very rarely mimicked; however, it is highly heterogeneous, and atypical forms can mimic virtually all common neurodegenerative syndromes. Warning features of a mimic include generalised seizures, hyponatraemia, fever, a facial movement disorder, a normal neurological examination and a modestly rapid presentation. Contrast-enhancing lesions or MRI signal hyperintensity outside the striatum, thalamus or cortex and a cerebrospinal fluid pleocytosis are key investigation pointers to a CJD mimic.

Neuroimaging in Dementia

“…A RPD is defined as a condition that progresses from first symptom onset to dementia (decline in more than one cognitive domain with functional impairment) in less than 2 years, but the progression often occurs quicker than this. 56 The prototypical causes of RPD are prion diseases (PrD), 205,206 including sporadic (sporadic Jakob-Creutzfeldt disease, sJCD), accounting for 85% of PrD cases, genetic (gPrDs) (10-15% of PrD cases), and acquired (variant and iatrogenic JCD, respectively, vJCD and iJCD, as well as kuru) (1% of cases). [207][208][209] The genetic forms have been historically classified by their clinico-pathological features into three categories: genetic Jakob-Creutzfeldt disease (gJCD), Gerstmann-Sträussler-Scheinker (GSS), and Fatal Familial Insomnia (FFI).…”

Stroke Mimics und Stroke Chamäleons – Differenzialdiagnose des Schlaganfalls

“…die Terminologie auch bei anderen neurologischen Erkrankungen verwendet wie beispielsweise bei der Creutzfeld-Jakob-Erkrankung ("CJD-Mimic" und "CJD-Chamäleon"), der amyotrophen Lateralsklerose ("ALS-Mimic") oder bei Anfällen ("Seizure Mimic") [6] [7].…”

Sporadic Creutzfeldt-Jakob Disease: Case Report and Literature Review

“…Status epilepticus and seizures are uncommon findings in sCJD [10]. Furthermore, in sCJD progressive loss of cognitive and neurological functions takes a matter of weeks or a month; whereas similar changes associated with dementia take more than six months [11]. However, caution must be observed when making the diagnosis of sCJD since toxic encephalopathies may mimic sCJD in clinical presentation [12].…”