Abstract

Introduction: Creutzfeldt-Jakob disease (CJD) is a rare prion disease classically manifesting with rapidly progressive dementia, abnormal movements and typical electroencephalographic (EEG) changes.

Case Report: A 74 year-old Caucasian man was recently discharged from another centre diagnosed with a stroke. He re-presented to our acute medical unit with worsening symptoms, and stroke remained the working diagnosis. Collateral history revealed a progressive cognitive decline and unilateral myoclonus. Further investigations supported the diagnosis of probable CJD, confirmed by the national CJD surveillance centre.

Discussion: Signs and symptoms atypical of stroke should raise the possibility of alternative diagnoses, including prion disease. CJD can present with unilateral symptoms, EEG and MRI changes. Early diagnosis prevents unnecessary investigations and treatments, allowing early palliative care input, where appropriate.

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References

1. World Health Organisation. Global surveillance, diagnosis and therapy of human transmissible spongiform encephalopathies: report of a WHO consultation. Geneva, Switzerland, 9–11 Feb http://www.who.int/csr/resources/publications/bse/WHO_EMC_ZDI_98_9/en/ (accessed 15 Sep 2015).
2. Tanev KS, Yilma M; An unusually presenting case of sCJD--the VV1 subtype. Clin Neurol Neurosurg 2009; 111(3): 282-91.
3. The National CJD Research & Surveillance Unit; CreutzfeldtJakob Disease Surveillance in the UK (22nd annual report 2013); Western General Hospital, Edinburgh. 2014 August
4. Sarraf P, Ghajarzadeh M & Salarian B; Creutzfeldt-Jacob Disease: a Case Report. Acta Medica Iranica 2014; 52(6): 488-489.
5. Gialanella B, Prometti P, Ferlucci C et al; A case of very rapid progressive ataxia in rehabilitation setting. Aging Clin Exp Res 2012; 24(2): 197-9.
6. Bavis J, Reynolds P, Tegeler C et al; Asymmetric neuroimaging in Creutzfeldt-Jakob disease: a ruse. J Neuroimaging 2003; 13(4): 376-9.
7. Creutzfeldt-Jakob Disease Foundation. 2007. Creutzfeldt-Jakob Disease and other Prion Diseases. Accessed July 7, 2015.
8. Paterson RW, Torres-Chae CC, Kuo AL et al; Differential diagnosis of Jakob-Cruetzfeldt disease. Arch Neurol 2012; 69(12): 1578-82.
9. Mccluskey L, Soukup B, Dovey J; A rare presentation to TIA clinic. Age and Ageing 2013; 42: 660–661.
10. Sacco RL, Kasner SE, Broderick JP et al; An updated definition of stroke for the 21st century: a statement for healthcare professionals from the American Heart Association/American Stroke Association. Stroke 2013; 44(7): 2064-89. doi:10.1161/STR.0b013e318296aeca.
11. Mehndiratta MM, Bajaj BK, Gupta M, et al; CreutzfeldtJakob disease: report of 10 cases from North India. Neurol India 2001; 49(4): 338-41.
12. Mahale RR, Javali M, Mehta A et al; A study of clinical profile, radiological and electroencephalographic characteristics of suspected Creutzfeldt-Jakob disease in a tertiary care centre in South India J Neurosci Rural Pract 2015; 6(1): 39–50. doi: 10.4103/0976-3147.143189
13. Kojovic M, Cordivari C & Bhatia K; Myoclonic disorders: a practical approach for diagnosis and treatment. Ther Adv Neurol Disord 2011; 4(1): 47–62. doi: 10.1177/1756285610395653.
14. Cambier DM, Kantarci K, Worrell GA et al; Lateralized and focal clinical, EEG, and FLAIR MRI abnormalities in CreutzfeldtJakob disease. Clin Neurophysiol 2003; 114(9): 1724-8.
15. Donato R, Cannon BR, Sorci G, et al. Functions of S100 Proteins. Current molecular medicine. 2013;13(1):24-57.
16. Fu H, Subramanian RR & Masters SC. 14-3-3 Proteins: Structure, Function, and Regulation Annual Review of Pharmacology and Toxicology 2000; 40: 617 -647.
17. McGuire LI, Peden AH, Orrú CD, et al. RT-QuIC analysis of cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease. Annals of neurology. 2012;72(2):278-285. doi:10.1002/ana.23589.
18. Forner SA, Takada LT, Bettcher BM, et al. Comparing CSF biomarkers and brain MRI in the diagnosis of sporadic CreutzfeldtJakob disease. Neurology: Clinical Practice. 2015;5(2):116-125. doi:10.1212/CPJ.0000000000000111.
19. Stoeck K, Sanchez-Juan P, Gawinecka J, et al. Cerebrospinal fluid biomarker supported diagnosis of Creutzfeldt–Jakob disease and rapid dementias: a longitudinal multicentre study over 10 years. Brain. 2012;135(10):3051-3061. doi:10.1093/brain/aws238.
20. Atarashi R, Sano K, Satoh K, Nishida N. Real-time quakinginduced conversion: A highly sensitive assay for prion detection. Prion. 2011;5(3):150-153. doi:10.4161/pri.5.3.16893.
21. Orrú CD, Groveman BR, Hughson AG, Zanusso G, Coulthart MB, Caughey B. Rapid and Sensitive RT-QuIC Detection of Human Creutzfeldt-Jakob Disease Using Cerebrospinal Fluid. mBio. 2015;6(1):e02451-14. doi:10.1128/mBio.02451-14.