Autopsy case of sporadic Creutzfeldt-Jakob disease presenting with signs suggestive of brainstem and spinal cord involvement
Autopsy case of sporadic Creutzfeldt-Jakob disease presenting with signs suggestive of brainstem and spinal cord involvement
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DOI：
10.1111/j.1440-1789.2006.00723.x
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发表时间：
2006-12-01
期刊：
影响因子：
2.3
通讯作者：
Sobue, Gen
中科院分区：
文献类型：
--
作者：
Iwasaki, Yasushi;Iijima, Masahiro;Sobue, Gen
我们描述了一个MM 1型散发性克雅氏病（CJD）的尸检病例，持续时间为93天。患者是一名59岁的日本男性，无朊病毒病家族史或已知的医源性暴露于CJD。他的第一个症状是左臂感觉迟钝，提示颈髓受累，他表现出快速进展的神经系统体征，如构音障碍、吞咽困难、嗜睡、睡眠呼吸暂停和呼吸衰竭，提示脑干受累。在疾病后期，观察到进行性精神恶化伴肌阵挛发作和脑电图上的周期性同步放电。尸检显示典型的海绵状改变广泛存在于大脑和小脑皮质、丘脑和基底节。突触型PrP沉积在大脑皮质、丘脑和基底节中显著。在小脑，虽然颗粒，分子和浦肯野细胞层保存良好的神经元损失和胶质细胞增生，PrP沉积标记的分子和颗粒细胞层。脑干和脊髓未见海绵状变性和神经元丢失，但在四叠体、黑质、脑桥核、下橄榄核和后角有较明显的PrP沉积。HLA-DR免疫组化染色显示大脑和小脑皮质、脑桥核、下橄榄核和后角有活化的小胶质细胞增生。神经系统症状和体征的潜在机制尚不清楚，但我们推测，除了大脑皮层的广泛参与外，脑干和脊髓中的PrP沉积和小胶质细胞激活也是原因。
We describe an autopsy case of MM1-type sporadic Creutzfeldt-Jakob disease (CJD), the duration of which was 93 days. The patient was a 59-year-old Japanese man with no family history of prion disease or known iatrogenic exposure to CJD. His first symptom was dysesthesia in the left arm, suggestive of cervical cord involvement, and he showed rapidly progressive neurologic signs, such as dysarthria, dysphagia, lethargy, sleep apnea and respiratory failure, suggestive of brainstem involvement. Progressive mental deterioration combined with episodes of myoclonic seizure and periodic synchronous discharges on the electroencephalogram were observed in the later disease stage. Autopsy showed typical spongiform change to be widespread in the cerebral and cerebellar cortices, thalamus and basal ganglia. Synaptic-type PrP deposition was marked in the cerebral cortex, thalamus and basal ganglia. In the cerebellum, although the granular, molecular and Purkinje cell layers were well preserved from neuronal loss and gliosis, PrP deposition was marked in the molecular and granular cell layers. Spongiform degeneration and neuronal loss were not seen in the brainstem and spinal cord, but relatively marked PrP deposition was observed in the quadrigeminal body, substantia nigra, pontine nucleus, inferior olivary nucleus and posterior horn. Immunohistochemical staining for HLA-DR showed proliferation of activated microglia in the cerebral and cerebellar cortices, pontine nucleus, inferior olivary nucleus and posterior horn. The mechanisms underlying the neurologic symptoms and signs were unclear, but we speculate that, in addition to widespread involvement of the cerebral cortex, PrP deposition and microglial activation in the brainstem and spinal cord were responsible.