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Initial Presentation

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.

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Initial Presentation

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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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