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学科主题临床医学
Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family
Fan, Yu-Hua1; Sun, Jian2; Yuan, Yun3; Chen, Ling1; Pei, Zhong1; Xing, Shi-Hui1; Liao, Bing4; Zeng, Jin-Sheng1
关键词Hereditary endotheliopathy biopsy vascular disease TREX-1
刊名INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY
2015
8期:8页:9105-9111
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Oncology ; Pathology
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Oncology ; Pathology
关键词[WOS]CEREBRORETINAL VASCULOPATHY ; VASCULAR RETINOPATHY ; EXONUCLEASE TREX1 ; BRAIN-TUMOR ; NEPHROPATHY ; RARE ; MIMICKING ; DISEASE ; HERNS
英文摘要

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.

语种英语
所属项目编号81000514
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000364775400040
引用统计
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59259
专题北京大学第一临床医学院_病理科
作者单位1.Sun Yat Sen Univ, Guangdong Key Lab Diag & Treatment Major Neurol D, Natl Key Clin Dept, Dept Neurol,Affiliated Hosp 1,Natl Key Discipline, Guangzhou 510080, Guangdong, Peoples R China
2.Sun Yat Sen Univ, Ctr Canc, State Key Lab Oncol South China, Guangzhou 510080, Guangdong, Peoples R China
3.Peking Univ, Dept Pathol, Hosp 1, Beijing 100034, Peoples R China
4.Sun Yat Sen Univ, Dept Pathol, Affiliated Hosp 1, Guangzhou 510080, Guangdong, Peoples R China
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GB/T 7714
Fan, Yu-Hua,Sun, Jian,Yuan, Yun,et al. Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family[J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY,2015,8(8):9105-9111.
APA Fan, Yu-Hua.,Sun, Jian.,Yuan, Yun.,Chen, Ling.,Pei, Zhong.,...&Zeng, Jin-Sheng.(2015).Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family.INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY,8(8),9105-9111.
MLA Fan, Yu-Hua,et al."Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family".INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY 8.8(2015):9105-9111.
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