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Improving Laboratory Diagnosis of Creutzfeldt-Jakob Disease
Marilyn Masih1, Chillarige S Ankita1, Renu Sehrawat1
1Department of Biochemistry, Govind Ballabh Institute of Postgraduate Medical Education and Research (GIPMER) New Delhi, India.
Insights
Diagnosing Creutzfeldt-Jakob disease (CJD) is challenging due to the lack of early tests. Combining serology, EEG, and CSF analysis aids in the timely diagnosis of this rare prion disease.
Area of Science:
- Neurology
- Pathology
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal prion disease characterized by rapidly progressive dementia.
- Timely diagnosis of CJD is hindered by the absence of reliable early diagnostic tests.
- Traditional definitive diagnosis via brain biopsy/autopsy is invasive and rarely performed.
Observation:
- A 65-year-old female presented with a 7-month history of cognitive decline, behavioral changes, and involuntary movements.
- The patient exhibited disorientation, a low Mini Mental State Examination score, and loss of bowel/bladder control.
- Initial evaluation included ruling out other neurodegenerative diseases through laboratory tests, CSF analysis, and neuroimaging.
Findings:
- Cerebrospinal fluid (CSF) analysis revealed positive 14-3-3 protein and RT-QuIC markers.
- A definitive diagnosis of sporadic CJD was established by integrating clinical presentation, CSF findings, and neuroimaging results.
Implications:
- Combining serology, electroencephalogram (EEG), and CSF investigations can significantly improve the timely diagnosis of CJD.
- This multimodal diagnostic approach is crucial for managing this rare and fatal neurological disorder.
- Highlighting the utility of non-invasive tests supports earlier detection and potential management strategies for CJD.
Background:
Creutzfeldt-Jakob disease (CJD) is a rare human form of prion disease caused by misfolded, transmissible proteinaceous infection particles (prions). As a fatal neurological illness, it mostly presents with rapidly progressive dementia, and most patients die within a year of clinical onset and diagnosis. The lack of an intravital test for CJD limits its timely diagnosis. A brain biopsy/autopsy is considered the gold standard for definitive diagnosis of CJD, however owing to its highly invasive and transmissible nature, it is rarely performed. In this case report, we try to highlight the important role of combining serology, EEG, and CSF investigations, often used for the diagnosis of CJD. Combining these in the laboratory improves the timely diagnosis of this rare and fatal disease.
Case Summary:
We report a clinical case study of a 65-year-old female, who presented to the Neurology OPD at a tertiary care referral centre, with chief complaints of forgetfulness, behavioural changes, and involuntary movements in the right upper limb for the last 7 months. According to the informant (daughter), the patient was asymptomatic 7 months ago after which she started developing these gradual onset symptoms. Later she was bed-bound and dependent on her family members for her daily chores and had even lost control over her bowel and bladder habits. On physical examination, the patient was found to be disoriented and afebrile with normal vitals, however, CNS examination showed a low Mini Mental Examination Score (MMSE). The patient was admitted to the neurology ward for further evaluation and a definitive diagnosis. Differential diagnosis was ruled out using various lab tests, CSF analysis, and neuroimaging. CSF report tested positive for 14-3-3 protein and CSF protein marker by RT-QuIC was outsourced. The confirmatory diagnosis of sporadic CJD was made based on clinical presentation, CSF analysis, and neuroimaging.
Conclusion:
Definitive diagnosis of CJD was possible with the help of various lab tests which helped rule out differential neurodegenerative diseases.
