Zhang Yong-Kang, Liu Jia-Rui, Yin Kang-Li, Zong Yuan, Wang Yu-Zhen, Cao Ye-Min
Diagnosis and Treatment Center of Vascular Disease, Shanghai TCM-Integrated Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai 200082, China.
World J Clin Cases. 2023 Sep 6;11(25):5982-5987. doi: 10.12998/wjcc.v11.i25.5982.
Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations. In humans, prion diseases result from mutations in the prion protein gene (PRNP). Only a limited number of cases involving a specific PRNP mutation at codon 196 (E196A) have been reported. The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease (CJD) caused by E196A mutation has not been documented in the existing literature.
A 61-year-old Chinese man initially presented with Korsakoff syndrome, followed by rapid-onset dementia, visual hallucinations, akinetic mutism, myoclonus, and hyperthermia. The patient had no significant personal or familial medical history. Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex, while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism. Routine biochemical and microorganism testing of the cerebrospinal fluid (CSF) yielded normal results. Tests for thyroid function, human immunodeficiency virus, syphilis, vitamin B1 and B12 levels, and autoimmune rheumatic disorders were normal. Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results. A test for 14-3-3 protein in the CSF yielded negative results. Whole-genome sequencing revealed a disease-causing mutation in PRNP. The patient succumbed to the illness 11 months after the initial symptom onset.
Korsakoff syndrome, typically associated with alcohol intoxication, also manifests in CJD patients. Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome.
朊病毒病是一组由传染性朊病毒蛋白或基因突变引起的退行性神经疾病。在人类中，朊病毒病由朊病毒蛋白基因（PRNP）突变引起。仅报道了有限数量的涉及密码子196处特定PRNP突变（E196A）的病例。现有文献中尚未记载由E196A突变引起的克雅氏病（CJD）患者并发科萨科夫综合征的情况。
一名61岁的中国男性最初表现为科萨科夫综合征，随后迅速出现痴呆、视幻觉、运动不能性缄默症、肌阵挛和高热。该患者无明显个人或家族病史。脑部磁共振成像显示皮质广泛高信号，而正电子发射断层扫描/计算机断层扫描显示大脑皮质代谢弥漫性降低。脑脊液（CSF）的常规生化和微生物检测结果正常。甲状腺功能、人类免疫缺陷病毒、梅毒、维生素B1和B12水平以及自身免疫性风湿性疾病的检测均正常。自身免疫性脑炎和自身抗体相关副肿瘤综合征的血液和脑脊液检测结果为阴性。脑脊液中14-3-3蛋白检测结果为阴性。全基因组测序显示PRNP存在致病突变。患者在出现初始症状11个月后因病死亡。
通常与酒精中毒相关的科萨科夫综合征也可在CJD患者中出现。携带PRNP E196A突变的CJD患者可能会出现科萨科夫综合征。
