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[Patient with Creutzfeld-Jakob disease - a case report]
Żanna Pastuszak1, Kazimierz Tomczykiewicz1, Adam Stępień1
1Department of Neurology, Central Clinical Hospital of the Ministry of National Defense, Military Institute of Medicine, Warsaw, Poland.
Summary
This case study highlights a woman with sporadic Creutzfeldt-Jakob disease (sCJD), a rare prion disease. Early psychotic symptoms delayed diagnosis, underscoring the need for broader clinical awareness of sCJD.
Area of Science:
- Neurology
- Prion Diseases
- Neurodegenerative Disorders
Background:
- Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder caused by prions.
- It presents in four forms: sporadic (sCJD), familial (fCJD), iatrogenic (jCJD), and variant (vCJD).
- Rapidly progressing dementia, myoclonus, and ataxia are common symptoms.
Observation:
- This report details a case of sporadic CJD in a woman with a history of childhood psychotic symptoms and behavioral disturbances.
- Her condition rapidly worsened, exhibiting cerebellar, pyramidal, and extrapyramidal system dysfunction.
- Cerebrospinal fluid analysis revealed 14-3-3 protein, and EEG/MRI showed changes characteristic of sCJD.
Findings:
- The patient's initial psychiatric symptoms led to a delayed diagnosis of sCJD.
- Neuropathological confirmation was achieved post-mortem.
- Diagnostic markers including 14-3-3 protein, EEG, and MRI findings supported the sCJD diagnosis.
Implications:
- This case underscores the importance of considering sCJD in patients with rapidly progressing neurological decline, even with atypical initial presentations.
- Early recognition and diagnosis of CJD are crucial for patient management and epidemiological surveillance.
- Further research into the early diagnostic markers and diverse presentations of CJD is warranted.
