Autopsy and Case Reports
https://www.autopsyandcasereports.org/article/doi/10.4322/acr.2024.502
Autopsy and Case Reports
Autopsy Case Report

A rare case of Sporadic Creutzfeldt-Jakob disease at a remote mountain hospital in the Indian Himalayan Region

Nitu Sharma; Jitender Kumar Sharma; Ashima Chander; Khushdeep Shergill; Meghna Yadav

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Abstract

Sporadic Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative spongiform encephalopathy that causes neuronal derangement secondary to prion protein. Its initial diagnosis is often complex and challenging due to non-specific clinical presentation, lack of awareness, and low clinical suspicion. This disease is invariably fatal, and most patients die within 12 months of presentation. Definite diagnosis of prion disease requires neuropathological analysis, usually done at autopsy. Here, we present the autopsy findings of a 57-year-old male patient, illustrating the complexity of diagnosing this disease early in the clinical course and the need for a broad differential diagnosis at the onset.

Keywords

Creutzfeldt-Jakob Disease, Neuropathology, Prions, Electroencephalography, Autopsy

References

1 Prusiner SB. Neurodegenerative diseases and prions. N Engl J Med. 2001;344(20):1516-26. http://doi.org/10.1056/NEJM200105173442006. PMid:11357156.

2 Iwasaki Y. Creutzfeldt-Jakob disease. Neuropathology. 2017;37(2):174-88. http://doi.org/10.1111/neup.12355. PMid:28028861.

3 Haltia M. Human prion diseases. Ann Med. 2000;32(7):493-500. http://doi.org/10.3109/07853890009002025. PMid:11087170.

4 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: WHO; 1999.

5 Bonda DJ, Manjila S, Mehndiratta P, et al. Human prion diseases: surgical lessons learned from iatrogenic prion transmission. Neurosurg Focus. 2016;41(1):E10. http://doi.org/10.3171/2016.5.FOCUS15126. PMid:27364252.

6 Diack AB, Head MW, McCutcheon S, et al. Variant CJD. 18 years of research and surveillance. Prion. 2014;8(4):286-95. http://doi.org/10.4161/pri.29237. PMid:25495404.

7 Kovács GG, Puopolo M, Ladogana A, et al. Genetic prion disease: the EUROCJD experience. Hum Genet. 2005;118(2):166-74. http://doi.org/10.1007/s00439-005-0020-1. PMid:16187142.

8 Mead S. Prion disease genetics. Eur J Hum Genet. 2006;14(3):273-81. http://doi.org/10.1038/sj.ejhg.5201544. PMid:16391566.

9 Centers for Disease Control and Prevention. CDC’s Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD). USA: CDC; 2018.

10 Saiz A, Graus F, Dalmau J, Pifarre A, Marin C, Tolosa E. Detection of 14-3-3 brain protein in the cerebrospinal fluid of patients with paraneoplastic neurological disorders. Ann Neurol. 1999;46(5):774-7. http://doi.org/10.1002/1531-8249(199911)46:5<774::AID-ANA14>3.0.CO;2-N.

11 Zerr I, Pocchiari M, Collins S, et al. Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt-Jakob disease. Neurology. 2000;55(6):811-5. http://doi.org/10.1212/WNL.55.6.811. PMid:10994001.

12 Fragoso DC, Gonçalves AL Fo, Pacheco FT, et al. Imaging of creutzfeldt-jakob disease : imaging patterns and their differential diagnosis 1. Radiographics. 2017;37(1):234-57. http://doi.org/10.1148/rg.2017160075. PMid:28076012.

13 Steinhoff BJ, Zerr I, Glatting M, Schulz-Schaeffer W, Poser S, Kretzschmar HA. Diagnostic value of periodic complexes in Creutzfeldt-Jacob disease. Ann Neurol. 2004;56(5):702-8. http://doi.org/10.1002/ana.20261. PMid:15449324.

14 Tanwani LK, Furman CD, Ritchie CS. Diagnostic challenges in Creutzfeldt-Jakob disease: case report. South Med J. 2003;96(8):832-5. http://doi.org/10.1097/00007611-200308000-00028. PMid:14515932.

15 Nolte KB, Muller TB, Denmark AM, Burstein R, Villalobos YA. Design and construction of a Biosafety Lavel 3 Autopsy Laboratory. Arch Pathol Lab Med. 2021;145(4):407-14. http://doi.org/10.5858/arpa.2020-0644-SA. PMid:33307551.

16 O’Sullivan S, Sajid MI, Agusto FB, et al. Virtual autopsy and community engagement for outbreak response in Africa: traditional, religious and sociocultural perspectives. Egypt J Forensic Sci. 2018;8(1):67. http://doi.org/10.1186/s41935-018-0096-0.

17 Cali I, Cracco L, Saracino D, et al. Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With aDe NovoSeven-Octapeptide Repeat Insertion. Front Cell Neurosci. 2020;14:150. http://doi.org/10.3389/fncel.2020.00150. PMid:32733203.

18 Shintaku M, Yutani C, Doh-Ura K. Brain stem lesions in sporadic Creutzfeldt-Jakob disease: a histopathological and immunohistochemical study. Neuropathology. 2006;26(1):43-9. http://doi.org/10.1111/j.1440-1789.2006.00654.x. PMid:16521478.

19 Kübler E, Oesch B, Raeber AJ. Diagnosis of prion diseases. Br Med Bull. 2003;66(1):267-79. http://doi.org/10.1093/bmb/66.1.267. PMid:14522864.
 


Submitted date:
03/05/2024

Accepted date:
05/02/2024

Publication date:
06/21/2024

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