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学科主题: 临床医学
题名:
Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family
作者: 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
发表日期: 2015
卷: 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
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
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000364775400040
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59259
Appears in Collections:北京大学第一临床医学院_病理科_期刊论文

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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

Recommended Citation:
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.
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