Iwasaki Yasushi, Mori Keiko, Ito Masumi, Mimuro Maya, Yoshida Mari
Department of Neurology, Oyamada Memorial Spa Hospital.
Rinsho Shinkeigaku. 2011 Oct;51(10):756-60. doi: 10.5692/clinicalneurol.51.756.
A Japanese female patient presented with dysarthria and gait disturbance with ataxia at the age of 63. She was initially diagnosed with spinocerebellar degeneration because a head CT showed atrophy of the cerebellum and brainstem, and dilatation of the fourth ventricle. Symptoms including abnormal behavior, dementia, vertical gaze palsy, dysphagia, retrocollis, axial rigidity, grasp reflex and positive Babinski's sign were gradually observed. Tegmental atrophy of the brainstem and dilatation of the third ventricle were apparent on images. The diagnosis was modified to progressive supranuclear palsy (PSP), 6 years after the onset of symptoms. Gastrostomy and tracheotomy were performed 7 and 8 years after onset, respectively, and the patient died one year later. At autopsy the brain weighed 1,030g and showed atrophy of the frontal lobe and cerebellum. The brainstem was also atrophic, particularly in the tegmentum and pontine base. Neurofibrillary tangles, mainly globose-type, were widespread in the subcortical structure, particularly in the globus pallidus, subthalamic nucleus, nucleus of the oculomotor nerve, substantia nigra, locus ceruleus, pontine nucleus, and the inferior olivary nucleus. Numerous glial fibrillary tangles and argyrophilic threads were also observed particularly in the frontal lobe, basal ganglia, brainstem and cerebellar white matter. The cerebellar dentate nucleus showed neuron loss with grumose degeneration and the Purkinje neuron layer showed neuron loss and Bergmann's gliosis with torpedoes. Tau positive inclusions in the Purkinje neurons, Bergmann glias and dentate nucleus neurons were observed. Pathological findings were consistent with the diagnosis of PSP but the olivopontocerebellar involvement and the quantity of Gallyas-positive/tau-positive structures were generally more severe than in typical PSP cases. According to these clinicopathologic findings and a review of the literature, we speculate on the existence of a PSP subtype with severe olivopontocerebellar involvement that tends to be clinically misdiagnosed as spinocerebellar degeneration.
一名63岁的日本女性患者出现构音障碍和伴有共济失调的步态障碍。她最初被诊断为脊髓小脑变性，因为头部CT显示小脑和脑干萎缩，以及第四脑室扩张。逐渐观察到包括异常行为、痴呆、垂直凝视麻痹、吞咽困难、颈后倾、轴性强直、抓握反射和巴宾斯基征阳性等症状。影像学检查显示脑干被盖萎缩和第三脑室扩张。症状出现6年后，诊断改为进行性核上性麻痹（PSP）。发病7年和8年后分别进行了胃造口术和气管切开术，患者1年后死亡。尸检时大脑重量为1030克，显示额叶和小脑萎缩。脑干也萎缩，特别是在被盖和脑桥基底部。神经原纤维缠结，主要是球状类型，广泛分布于皮质下结构，特别是苍白球、丘脑底核、动眼神经核、黑质、蓝斑、脑桥核和下橄榄核。还特别在额叶、基底神经节、脑干和小脑白质中观察到大量胶质原纤维缠结和嗜银纤维。小脑齿状核显示神经元丢失伴颗粒样变性，浦肯野神经元层显示神经元丢失和伴有鱼雷样结构的伯格曼胶质细胞增生。在浦肯野神经元、伯格曼胶质细胞和齿状核神经元中观察到tau阳性包涵体。病理结果与PSP的诊断一致，但橄榄脑桥小脑受累情况以及Gallyas阳性/tau阳性结构的数量一般比典型PSP病例更严重。根据这些临床病理结果并回顾文献，我们推测存在一种伴有严重橄榄脑桥小脑受累的PSP亚型，该亚型在临床上容易被误诊为脊髓小脑变性。
