Extensive cortical spongiform changes with cerebellar small amyloid plaques: The clinicopathological case of MV2K+C subtype in Creutzfeldt-Jakob disease.
Extensive cortical spongiform changes with cerebellar small amyloid plaques: The clinicopathological case of MV2K+C subtype in Creutzfeldt-Jakob disease.
复制标题
广泛的皮质海绵状改变伴小脑小淀粉样斑块：克雅氏病 MV2K C 亚型的临床病理病例。
作者：
Araki K;Nakano Y;Kobayashi A;Matsudaira T;Sugiura A;Takao M;Kitamoto T;Murayama S;Obi T
我们报告一例散发性克雅氏病（sCJD） MV2K+C亚型的临床病例报告。患者是一名72岁的女性，在22个月的病程中表现出进行性痴呆。在此期间，弥散加权MRI显示早期大脑皮层异常高强度。临床病程与先前报道的MV2K或MV2K+C亚型sCJD患者相似。然而，组织病理学检查显示了独特的特征：严重的广泛海绵状改变，大脑和基底节区空泡周围沉积，大脑斑块样PrP沉积，小脑仅轻度改变，小淀粉样斑块（直径约20 μm），小于MV2K亚型或变型CJD（直径40-50 μm）。分子分析显示，在密码子129处存在蛋氨酸/缬氨酸杂合，PrP基因（PRNP）无致病性突变。Western blot分析右颞极的蛋白酶抗性PrP （PrPSc）显示为2型模式，其特征是单一的未糖基化带，与典型的MV2亚型sCJD所描述的双链相反。另一个中间带可能存在于有库鲁斑块的小脑中。因此，小脑中的小淀粉样斑块可能对MV2K+C亚型至关重要。
We report a clinical case report of the MV2K+C subtype of sporadic Creutzfeldt‐Jakob disease (sCJD). The patient was a 72‐year‐old woman who exhibited progressive dementia over the course of 22 months. Diffusion‐weighted MRI during this period showed abnormal hyperintensity in the cerebral cortex in the early stage. The clinical course was similar to that of previously reported patients with the MV2K or MV2K+C subtype of sCJD. However, histopathological examination revealed unique features: severe extensive spongiform changes with perivacuolar deposits in the cerebrum and basal ganglia, plaque‐like PrP deposits in the cerebrum, and only mild changes in the cerebellum with small amyloid plaques (∼20 μm in diameter), smaller than those in the MV2K subtype or variant CJD (40–50 μm in diameter). Molecular analysis showed a methionine/valine heterozygosity at codon 129 and no pathogenic mutation in the PrP gene (PRNP). Western blot analysis of the protease‐resistant PrP (PrPSc) in the right temporal pole revealed the type 2 pattern, which is characterized by a single unglycosylated band, in contrast to the doublet described for the typical MV2 subtype of sCJD. The other intermediate band might exist in the cerebellum with kuru plaques. Therefore, small amyloid plaques in the cerebellum can be crucial for MV2K+C subtype.