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首页> 外文期刊>International Journal of Clinical and Experimental Pathology >Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family
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Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family

机译：遗传性内皮病伴视网膜病变和脑病：一家人的病理和遗传研究

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Background: The objective of this study was to examine the clinical, pathological and genetic features of a family suffering from hereditary endotheliopathy with retinopathy and encephalopathy. Methods: The index case was male, and his symptoms were detected at 18 years of age. The clinical manifestation included recurrent headache, fever, consciousness disturbances and haemiplegia. Bilateral cerebral hemispheric lesions were detected via MRI as low signals on T1 and high signals on T2 and FLAIR, with moderate enhancement. Video EEG revealed an increase in the slow wave frequency. An EMG displayed neurogenic atrophy. Similar clinical and imaging characteristics were detected in his mother and his uncle. Pathological examinations of the brain, muscle and sural nerve were performed on the index case. Sequence analysis of the TREX1 gene was performed on the index case, his sister and his father. Results: A brain biopsy revealed spongiform alterations as well as inflammatory cell infiltration in a few small vessels. Neurogenic muscular atrophy was detected based on a biopsy of the muscle. Demyelination was detected based on a biopsy of the sural nerve. Electron microscopic examination of the sural nerve revealed thickening and delamination of the basement membrane. No reported TREX1 gene mutation was detected for any of the patients. Conclusion: Hereditary endotheliopathy presented with peripheral nerve involvement. Multi-laminar thickening of the basement membrane of the capillaries also appeared in the extracerebral tissue. The involvement of a novel gene should be further examined.
机译：背景：本研究的目的是检查患有遗传性内皮病，视网膜病和脑病的家庭的临床，病理和遗传特征。方法：索引病例为男性，其症状在18岁时被发现。临床表现包括反复发作的头痛，发烧，意识障碍和偏瘫。通过MRI检测到双侧脑半球病变，T1信号低，T2和FLAIR信号高，中等程度增强。视频脑电图显示慢波频率增加。肌电图显示神经源性萎缩。在他的母亲和叔叔中也发现了类似的临床和影像学特征。对指示病例进行了脑，肌肉和腓肠神经的病理检查。 TREX1基因的序列分析在索引病例，他的姐姐和他的父亲身上进行。结果：脑活检显示海绵状改变以及一些小血管中炎性细胞浸润。根据肌肉的活检发现神经源性肌肉萎缩。根据腓肠神经的活检发现脱髓鞘。腓肠神经的电子显微镜检查显示基底膜增厚和分层。没有任何患者报告TREX1基因突变。结论：遗传性内皮病伴周围神经受累。毛细血管基底膜的多层分层也出现在脑外组织中。新基因的参与应进一步检查。

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