Iwasaki Yasushi, Mori Keiko, Ito Masumi, Mimuro Maya, Yoshida Mari
Department of Neurology, Oyamada Memorial Spa Hospital.
Rinsho Shinkeigaku. 2012;52(3):156-60. doi: 10.5692/clinicalneurol.52.156.
A 55-year-old Japanese female with no family history of neurological disease showed gait disturbance with rigidity and resting tremor. She was initially diagnosed with Parkinson's disease, but neither laterality of symptoms nor levodopa benefit were observed. The parkinsonism and gait freezing progressed unusually slowly and she experienced frequent falls 17 years after the onset of symptoms. When neurologic examination revealed vertical gaze palsy, masked face, bradykinesia and dominant axial rigidity, the diagnosis was modified to progressive supranuclear palsy (PSP). Retrocollis, grasp reflex, and bilateral Babinski's sign developed, but resting tremor disappeared. Gastrostomy was performed 22 years after onset, after which she was still capable of walking with assistance. Tracheotomy was not performed. The patient died of an acute subarachnoid hemorrhage 24 years after onset at the age of 79. On autopsy, the brain weighed 1,050 g and showed frontal lobe atrophy. Coronal cerebral slices showed atrophy of the globus pallidus and subthalamic nucleus. Tegmental atrophy of the brainstem and depigmentation of the substantia nigra were observed. Neuropathologic examination showed severe neuron loss with gliosis in the globus pallidus, subthalamic nucleus, substantia nigra, and tegmentum of the brainstem. The Purkinje neuron layer and cerebellar dentate nucleus showed mild neuron loss. Globose-type neurofibrillary tangles were widespread, particularly in the globus pallidus, subthalamic nucleus, substantia nigra, nucleus of oculomotor nerve, locus ceruleus, and cerebellar dentate nucleus. Glial fibrillary tangles (coiled body and tuft-shaped astrocyte) and argyrophilic threads were also widespread, particularly in the frontal lobe and basal ganglia. Lewy bodies were not observed. Although, the pathologic findings were consistent with PSP, Gallyas-positive and tau-positive structures were generally small in number. According to the clinicopathological findings, we speculate that this case showed a distinct subtype of PSP with a slowly progressive clinical course and generally mild tau deposition.
一名55岁无神经疾病家族史的日本女性出现步态障碍，伴有僵硬和静止性震颤。她最初被诊断为帕金森病，但未观察到症状的偏侧性，左旋多巴治疗也无效果。帕金森综合征和步态冻结进展异常缓慢，症状出现17年后她频繁跌倒。当神经检查发现垂直凝视麻痹、面具脸、运动迟缓及明显的轴性僵硬时，诊断改为进行性核上性麻痹（PSP）。出现了颈后伸、抓握反射和双侧巴宾斯基征，但静止性震颤消失。发病22年后行胃造口术，术后她仍能在辅助下行走。未行气管切开术。患者在发病24年后，79岁时死于急性蛛网膜下腔出血。尸检时，脑重1050克，显示额叶萎缩。大脑冠状切片显示苍白球和丘脑底核萎缩。观察到脑干被盖萎缩和黑质色素脱失。神经病理学检查显示苍白球、丘脑底核、黑质和脑干被盖有严重的神经元丢失伴胶质细胞增生。浦肯野神经元层和小脑齿状核有轻度神经元丢失。球形神经原纤维缠结广泛存在，尤其在苍白球、丘脑底核、黑质、动眼神经核、蓝斑和小脑齿状核。胶质原纤维缠结（卷曲体和簇状星形胶质细胞）和嗜银纤维也广泛存在，尤其在额叶和基底节。未观察到路易小体。尽管病理结果符合PSP，但加利亚斯阳性和tau阳性结构数量通常较少。根据临床病理结果，我们推测该病例显示了PSP的一种独特亚型，临床病程进展缓慢，tau沉积一般较轻。
