Villalba Noel Lorenzo, Laboulbene Stephane, Merzouki Tawoufik, Méndez Bailon Manuel, Kechida Melek, Sigonney Vanessa, Tabue Teguo Maturin
Service de Médecine Interne, Centre Hospitalier Chrétien, Belgique.
Service de Médecine Interne, Centre Hospitalier Saint Cyr, France.
J Alzheimers Dis Rep. 2018 Mar 6;2(1):51-53. doi: 10.3233/ADR-170050.
A 66-year-old woman presented with slowly progressive cognitive decline. MRI showed bi-frontotemporal atrophy, but the 14.3.3 protein was not present in cerebrospinal fluid. Electroencephalogram was irrelevant. Interview with relatives led doctors to search for a genetic cause and confirmed the diagnosis of Gerstmann-Sträussler-Scheinker syndrome.
一名66岁女性出现缓慢进展的认知功能衰退。磁共振成像显示双侧额颞叶萎缩，但脑脊液中未检测到14.3.3蛋白。脑电图检查无异常。与亲属的交谈促使医生寻找遗传病因，最终确诊为格斯特曼-施特劳斯勒-谢inker综合征。
