Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Prion. 2020 Dec;14(1):24-28. doi: 10.1080/19336896.2019.1706703.
Sporadic Creutzfeldt-Jakob disease is the predominant type of human prion disease. While routine diagnostic in phenotypic cases has advanced considerably, the clinical heterogeneity and rarity of subtypes continue to constitute a major clinical and diagnostic challenge. Here, we report a peculiar case of the Heidenhain-variant of MM1 sporadic Creutzfeldt-Jakob disease presenting as a stroke mimic in an 81-year-old patient with a rapid and clinically distinct course of disease as compared to previously reported cases. While 14-3-3 protein was negative, clinical findings substantiated by 18-FDG-PET imaging and RT-QuIC-Assay were able to establish the diagnosis. We conclude that in cases presenting with rapid progressive dementia secondary to sudden cortical anopsia the Heidenhain-variant of CJD should be considered.
散发性 Creutzfeldt-Jakob 病是人类朊病毒病的主要类型。虽然表型病例的常规诊断已经有了很大的进展，但亚型的临床异质性和罕见性仍然构成了主要的临床和诊断挑战。在这里，我们报告了一例 Heidenhain 变异型 MM1 散发性 Creutzfeldt-Jakob 病的特殊病例，该病例表现为 81 岁患者的中风样发作，与以往报道的病例相比，该患者的疾病具有快速和明显的临床病程。虽然 14-3-3 蛋白呈阴性，但临床发现通过 18-FDG-PET 成像和 RT-QuIC 检测得到证实，从而能够做出诊断。我们的结论是，在因突然皮质盲导致快速进行性痴呆的病例中，应考虑 Heidenhain 变异型 CJD。
