Department of Neurology, The Second Affiliated Hospital of Hainan Medical University, Haikou, China.
Key Laboratory of Brain Science Research & Transformation In Tropical Environment of Hainan Province, Haikou, China.
Prion. 2021 Dec;15(1):177-182. doi: 10.1080/19336896.2021.1968291.
We report a case of genetic Creutzfeldt-Jakob disease (gCJD), which has a clinical phenotype that is highly similar to Fatal Family Insomnia (FFI) and has a triad of Wernicke-Korsakoff syndrome (WKs) at the developmental stage of the disease. The 51-year-old male complained of sleep disorder and imbalance who had visited five different hospitals before diagnosed. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk, and memory disturbances. The disturbances increased during the course of the disease, which led to the death of the patient 18 months after the appearance of the signs. Although the patient show negative in brain magnetic resonance imaging (MRI) and 14-3-3 protein of cerebrospinal fluid (CSF), he was finally diagnosed with gCJD disease by the human prion protein (PRNP) gene mutations.
我们报告了一例遗传 Creutzfeldt-Jakob 病（gCJD）病例，其临床表现与致死性家族性失眠症（FFI）高度相似，并在疾病的发展阶段具有三联征的 Wernicke-Korsakoff 综合征（WKs）。这位 51 岁的男性因睡眠障碍和平衡失调而就诊，在此之前他已经去过五家不同的医院就诊。神经系统检查显示出三联征的 WKs 症状，如眼球运动障碍、四肢和躯干共济失调以及记忆障碍。在疾病过程中，这些症状不断加重，导致患者在出现症状 18 个月后死亡。尽管患者的脑部磁共振成像（MRI）和脑脊液（CSF）中的 14-3-3 蛋白呈阴性，但最终通过人类朊病毒蛋白（PRNP）基因突变诊断为 gCJD 疾病。
