ABSTRACT

Swallowing function in long-term survivors with Creutzfeldt-Jakob disease (CJD) remains unknown. Herein, we demonstrated serial evaluation of swallowing function in a case with V180I genetic CJD (gCJD) using videofluoroscopic examination of swallowing (VF). A 69-year-old woman was admitted to our hospital because of bradykinesia and memory disturbances 4 months after the onset of symptoms. Neurological examination revealed dementia, bradykinesia and frontal signs. Diffusion-weighted MRI revealed bilateral cortical hyperintensity in the frontal, temporal, and parietal cortices, and PRNP gene analysis indicated a V180I mutation. Her dysphagia gradually progressed, and she received percutaneous gastrostomy 42 months after the onset. VF was performed at 27, 31, 39, and 79 months after the onset. Although bolus transport from oral cavity to pharynx gradually worsened and initiation of the pharyngeal swallow was gradually delayed, the pharyngeal swallowing function was preserved even at 72 months after onset. MRI revealed no apparent atrophy of brainstem, and single photon emission computed tomography showed preserved regional cerebral blood flow in the brainstem. These findings suggest that the pathophysiology of dysphagia in a long-term survivor of V180I gCJD is that of pseudobulbar palsy, likely owing to preserved brainstem function even in the akinetic mutism state.

摘要

克雅氏病 (CJD) 长期幸存者的吞咽功能仍然未知。在此，我们展示了使用吞咽荧光透视检查 (VF) 在 V180I 遗传性克雅氏病 (gCJD) 病例中对吞咽功能的连续评估。一名 69 岁女性，在出现症状 4 个月后因运动迟缓和记忆障碍入院。神经系统检查显示痴呆、运动迟缓和额叶体征。弥散加权 MRI 显示双侧额叶、颞叶和顶叶皮质高信号，PRNP基因分析表明存在 V180I 突变。她的吞咽困难逐渐加重，在发病 42 个月后接受了经皮胃造口术。VF 在发病后 27、31、39 和 79 个月进行。虽然从口腔到咽部的食团运输逐渐恶化，咽部吞咽的开始逐渐延迟，但即使在发病后 72 个月，咽部吞咽功能仍保留。MRI 显示脑干无明显萎缩，单光子发射计算机断层扫描显示脑干区域脑血流保留。这些发现表明，V180I gCJD 长期幸存者吞咽困难的病理生理学是假性延髓麻痹，这可能是由于即使在无动力缄默状态下脑干功能仍保留。