Case Report

Diagnostic Challenges in Creutzfeldt-Jakob Disease: Case Report

Authors: Lal K. Tanwani, MD, Christian D. Furman, MD, Christine S. Ritchie, MD, MSPH

Abstract

Sporadic Creutzfeldt-Jakob disease (CJD) is the most common prion disease. The diagnosis can be confirmed only by histological examination of brain tissue obtained at biopsy or at autopsy. Because of the transmissible nature of the disease, autopsy or brain biopsy cannot be performed at many institutions, which poses numerous challenges in confirming the diagnosis. We report the case of a patient with CJD in which autopsy to confirm the diagnosis was performed after overcoming numerous obstacles and advocating with hospital leadership. This case illustrates the numerous challenges that exist in achieving a definitive diagnosis of CJD and in postmortem disposition of the body, and we provide recommendations to clinicians who face similar challenges.

This content is limited to qualifying members.

Existing members, please login first

If you have an existing account please login now to access this article or view purchase options.

Purchase only this article ($25)

Create a free account, then purchase this article to download or access it online for 24 hours.

Purchase an SMJ online subscription ($75)

Create a free account, then purchase a subscription to get complete access to all articles for a full year.

Purchase a membership plan (fees vary)

Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.

References

1. Knight R. The relationship between new variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. Vox Sang 1999; 76: 203–208.
 
2. Lorains JW, Henry C, Agbamu DA, et al. Variant Creutzfeldt-Jakob disease in an elderly patient. Lancet 2001; 357: 1339–1340.
 
3. Prusiner SB. Shattuck Lecture: Neurodegenerative diseases and prions. N Engl J Med 2001; 344: 1516–1526.
 
4. Sivakumar R, Barrett JA, Ironside JW, et al. Creutzfeldt-Jakob disease presenting as recurrent falls in an older person. Age Ageing 2001; 30: 356–357(letter).
 
5. Jiang TT, Moses H, Gordon H, et al. Sporadic Creutzfeldt-Jakob disease presenting as major depression. South Med J 1999; 92: 807–808.
 
6. Pachalska M, Kurzbauer H, MacQueen BD, et al. Neuropsychological features of rapidly progressive dementia in a patient with an atypical presentation of Creutzfeldt-Jakob disease. Med Sci Monit 2001; 7: 1307–1315.
 
7. DeArmond SJ, Prusiner SB. Etiology and pathogenesis of prion diseases. Am J Pathol 1995; 146: 785–811.
 
8. Masters CL, Harris JO, Gajdusek DC, et al. Creutzfeldt-Jakob disease: Patterns of worldwide occurrence and the significance of familial and sporadic clustering. Ann Neurol 1979; 5: 177–188.
 
9. Brown P, Gibbs CJ Jr, Rodgers-Johnson P, et al. Human spongiform encephalopathy: The National Institutes of Health series of 300 cases of experimentally transmitted disease. Ann Neurol 1994; 35: 513–529.
 
10. de Silva R, Findlay C, Awad I, et al. Creutzfeldt-Jakob disease in the elderly. Postgrad Med J 1997; 73: 557–559.
 
11. Gibbons RV, Holman RC, Belay ED, et al. Creutzfeldt-Jakob disease in the United States: 1979–1998. JAMA 2000; 284: 2322–2323(letter).
 
12. Schroter A, Zerr I, Henkel K, et al. Magnetic resonance imaging in the clinical diagnosis of Creutzfeldt-Jakob disease. Arch Neurol 2000; 57: 1751–1757.
 
13. Poser S, Mollenhauer B, Kraubeta A, et al. How to improve the clinical diagnosis of Creutzfeldt-Jakob disease. Brain 1999; 122: 2345–2351.
 
14. Whittle IR, Will RG, Ironside JW. Brain biopsy and patients with atypical presentations of sporadic Creutzfeldt-Jakob disease. J Neurol Neurosurg Psychiatry 1997; 63: 547–548(letter).
 
15. Shapiro MF, Hayward RA, Guillemot D, et al. Residents’ experiences in, and attitudes toward, the care of persons with AIDS in Canada, France, and the United States. JAMA 1992; 268: 510–515.
 
16. Steelman VM. Creutzfeldt-Jakob disease: Recommendations for infection control. Am J Infect Control 1994; 22: 312–318.
 
17. Ironside JW, Bell JE. The “high-risk” neuropathological autopsy in AIDS and Creutzfeldt-Jakob disease: Principles and practice. Neuropathol Appl Neurobiol 1996; 22: 388–393.
 
18. Budka H, Aguzzi A, Brown P, et al. Tissue handling in suspected Creutzfeldt-Jakob disease (CJD) and other human spongiform encephalopathies (prion diseases). Brain Pathol 1995; 5: 319–322.
 
19. World Health Organization. WHO Infection Control Guidelines for Transmissible Spongiform Encephalopathies: Report of a WHO Consultation, Geneva Switzerland, 23–26 March 1999(WHO/CDS/CSR/APH/2000.3). Geneva, World Health Organization, 1999. Available at:http:/who.int/emc-documents/tsc/docs/whocdscsraph2003.pdf. Accessed June 17, 2003.