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Genetic Creutzfeldt-Jakob Disease in a 49-Year-Old Woman: A Case Study and Insights

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This case presents a 49-year-old Chinese woman with a two-year history of progressive dementia, fatigue, and sleep difficulties. She developed communication issues, increased appetite, and complex visual hallucinations. Family history revealed similar symptoms in relatives, raising concerns about hereditary factors. Neurological examinations indicated severe apathy and myoclonus. CSF analysis showed positive 14-3-3 protein, suggesting prion disease. Unfortunately, the patient passed away two days post-diagnosis, leading to considerations for brain autopsy and investigating the PRNP gene associated with genetic CJD.

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Genetic Creutzfeldt-Jakob Disease in a 49-Year-Old Woman: A Case Study and Insights

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  1. Initial Presentation • A 49-year-old Chinese woman has been suffering from progressive dementia, tiredness, and mild difficulty in falling asleep for 2 years. Recently, she developed communication difficulty, and she was unable to work. • Her family noticed an increase in her appetite and complex visual hallucinations.

  2. Hx • High school teacher • Healthy lifestyle • Non-smoker and non-drinker • No history of recreational drug use.

  3. Hx Cont’d Family history: • Both proband’s maternal grandmother, elder brother (46), and elder sister (37) died with similar symptoms. • The son of her first cousin has impaired cognitive ability since he was 4; still alive.

  4. Pedigree

  5. Physical Examinations • BMI: 24 • BP: 113/62 mmHg • HR: 79 beats/min • RR: 16/min • Temp: 36.9 °C

  6. Neurological Examinations • Severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia, and bilateral Babinski signs.

  7. DDx • What test should we order? • What organs should we check for?

  8. CSF • What is a CSF? • What specific substance do we look for in the CSF?

  9. CSF Cont’d • Test result indicates 14-3-3 positive (3)

  10. Imaging Study

  11. Sad news!!! • Unfortunately, the patient died 2 days ago.

  12. What now? • Brain autopsy (after informed consent from her family member) • What’s the hallmark gene to look for in the brain autopsy?

  13. PRNP Analysis

  14. Diagnosis • Genetic CJD • What is CJD? • What treatment is available?

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