Patient Condition
Portador de la mutación del gen PRNP D178N (129M / V heterozigoto), madre murió de FFI. Insomnio progresivo durante 4 meses, acompañado de ansiedad severa, pérdida de peso de 12 kg y trastornos termorreguladores (hipertermia paroxística).
Treatment Timeline
| Phase | Details | Date |
|---|
| Symptom control and sleep induction | | |
| Immunomodulation and symptomatic treatment | | |
| Long-term maintenance and palliative care | | |
Treatment Outcome
| before | TST 72分钟/24h，体重下降12kg，频发室性早搏，MMSE 24分 |
|---|
| after | TST改善至90分钟/24h，室性早搏减少60%，体重稳定，焦虑症状明显缓解 |
|---|
| highlight | 综合对症治疗有效控制了心血管并发症和焦虑症状，姑息治疗显著改善了终末期生活质量，生存期16个月 |
|---|