Heidenhain变异型克-雅病1例并文献复习

Report of a case of Heidenhain variant Creutzfeldt-Jakob disease and review of literature

目的:探讨Heidenhain变异型克-雅病(HvCJD)的临床特点,以加深对其认识,减少误诊。方法:收集2022年8月4日入住海南省人民医院的1例HvCJD患者临床资料,回顾分析其临床特点并进行文献复习。结果:患者59岁,男性,以双眼视物模糊起病,随后出现快速进行性认知功能减退。初次简易精神状态检查量表评分21/30分,蒙特利尔认知评估量表评分11/30分。头颅MRI弥散加权成像序列提示双侧额枕顶叶、岛叶皮质线样稍高信号,呈“飘带征”改变;T 2WI液体衰减反转恢复序列示双侧顶叶皮质信号稍高。脑电图可见不典型三相波。脑脊液14-3-3蛋白阳性。起病2个月后随访患者,发现其新出现肌阵挛。患者未经有效治疗,起病2个半月后死亡。经复习HvCJD相关36篇文献,该类型非常罕见,大多数Heidenhain变异型患者出现了枕叶皮质弥散加权成像高信号。后部皮质损伤可能影响主要和更高级别的视觉处理,导致各种视觉障碍。早期主要表现为视觉症状,如视力下降、视物模糊、皮质视野缺损及色觉障碍等。 结论:HvCJD患者发病时仅出现视觉障碍,随后出现其他神经系统症状,病情进展迅速,多于短期内死亡。此病罕见,易误诊,目前并无有效治疗手段。

Objective To explore the clinical features of Heidenhain variant Creutzfeldt-Jakob disease(HvCJD)to deepen understanding and recognition of this disease.Methods Clinical data of 1 case of HvCJD admitted to Hainan General Hospital on August 4,2022,were collected,whose clinical characteristics were reviewed and analyzed,and literature review was conducted.Results The 59 years old male patient initially experienced symptoms of blurred vision,followed by a rapid decline in cognitive function.Mini-Mental State Examination score was 21/30 and Montreal Cognitive Assessment score was 11/30.Diffusion-weighted magnetic resonance imaging demonstrated the presence of mild ribbon-like hyperintensity within the bilateral frontal-parietal-occipital-insular cortex.T2WI fluid attenuated inversion recovery imaging exhibited slight hyperintensity within the bilateral parietal cortex.The electroencephalography showed atypical triphasic waves.The examination of cerebrospinal fluid demonstrated 14-3-3 protein with a positive result.Two months after onset of illness,follow-up revealed new symptoms of myoclonus in the patient.Finally,the patient was not effectively treated and died about 2.5 months after onset.Thirty-six relevant literatures of HvCJD were reviewed.Most Heidenhain variant patients exhibited occipital cortical diffusion weighted imaging hyperintensity.Posterior cortical damage may affect primary and higher-level visual processing,leading to various visual disturbances.The early symptoms were mainly visual symptoms,such as visual reduction,blurred vision,visual field defect and color vision impairment.Conclusions HvCJD patients only present with various visual disorders at the onset,followed by other neurological symptoms.The disease progresses rapidly,and patients often die in a short period of time.The disease is very rare and is often misdiagnosed.Currently,there is no feasible and effective treatment for HvCJD.