额颞叶痴呆三例患者临床、神经影像及病理研究

Clinical, neuroradiological and pathological studies on 3 cases of frontotemporal dementia

目的认识额颞叶痴呆的临床表现、影像学特征以及与组织病理改变的关系。方法对3例额颞叶痴呆患者的临床、影像学资料和尸检病理组织检查结果进行研究。结果3例患者临床上均表现有突出的行为异常、人格改变、语言障碍,病程中伴不同程度的认知功能减退。生前神经影像检查均显示额叶或额颞叶萎缩。脑组织检查结果:例1发现在海马及额、颞叶皮质存在皮克细胞以及tau和ubiquitin阳性皮克小体,诊断为皮克病;例2发现在额、顶叶皮质,基底节,脑干灰质核团存在tau阳性神经原纤维缠结和特征性星形胶质细胞斑,诊断为皮质基底节变性。另1例大脑皮质及皮质下组织未见各种神经元和胶质细胞包涵体及老年斑,并且tau、α-synuclein、ubiquitin免疫组化染色未发现异常蛋白质表达,病理检查结果符合无组织学特征改变的额颞叶变性。结论临床诊断的额颞叶痴呆在组织病理学上包括有皮克病在内的多种组织学类型,而非独立单一疾病类型。

Objective To recognize the clinical and neuroradiological features of frontotemporal dementia, and their correlations with neuropathological lesions. Methods Clinical presentations and neuroimaging of 3 cases with autopsy-confirmed frontotemporal dementia were described, and their histopathological fingdings observed by routine neuropathological methods and immunohistochemistry. Results Symptoms of 3 cases occurring in the elders, had a duration for 11--16 years. All of them presented behavioral abnormalities, personality changes, loss of empathy and language disturbance, with mild to moderate recognitive impairment. Brain MRI of all the cases showed a marked frontal or frontotemporal lobe atrophy. Macroscopical inspection of one case showed widespread brain atrophy, but the bilateral frontal and temporal lobes were prominent. Pick＇ s cells, and tau- and ubiquitin-positive Pick＇ s bodies were found in the frontal, temporal cortex, and the hippocampus of this case. Its neuropathological diagnosis was Pick＇ s disease with Pick＇ bodies. Lesions of another case involved mainly in the frontal＇cortex and basal ganglia. Main histopathological findings included abundant tau-postive neurofibrinary tangles and characteristic astrocyte plaques in the frontal and parietal cortex, basal ganglia and brainstem. Theses findings were compatible with corticobasal degeneration. Macroscopical examination on the remaining case showed marked temporal lobe atrophy. No neuronal and glial inclusions, senile plaques were shown in the cerebral neocortex, hippocampus and subcortical tissue by silver staining and tau, synuclein and ubiquitin immunostaining. This case was diagnosed as frontotemporal degeneration lacking in distinctive histological changes. Conclusion Pathological substrate of the clinically diagnosed frontotemporal dementia should be recognized as the sprectum of disease consisting in different histological subtypes included in classic Pick＇ s disease, but it should not be a single entity of disease.