FFI-005

Insonnia familiare fatale (FFI)

亚洲 41岁 男 中国 Total Cost: 243

Patient Condition

Mutazione del gene PRNP D178N (129M omozigoto), nonno con sospetta storia di FFI. Insomnia progressiva per 7 mesi, accompagnata da improvvisa perdita di peso di 15 kg, impotenza e anisocoria.

Treatment Timeline

PhaseDetailsDate
Symptom control and sleep induction
Immunomodulation and symptomatic treatment
Long-term maintenance and palliative care

Treatment Outcome

beforeTST 42分钟/24h,体重骤降15kg,频繁攻击性发作,MMSE 20分
afterTST改善至95分钟/24h,攻击性发作减少80%,体重稳定,营养状态改善
highlight中国顶级神经内科中心的综合管理有效控制了行为和精神症状,姑息治疗显著改善了患者终末期生活质量