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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.在对200名接受遗传性出血性毛细血管扩张症（HHT）临床基因检测的个体进行的研究中，发现ENG和ACVRL1基因的新突变：基因型与表型的相关性。
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本文引用的文献

1
Brain abscess caused by Enterococcus faecalis following a dental procedure in a patient with hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症患者在牙科手术后由粪肠球菌引起的脑脓肿。
J Clin Microbiol. 2012 May;50(5):1807-9. doi: 10.1128/JCM.06658-11. Epub 2012 Feb 15.
2
Hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症
CMAJ. 2009 Apr 14;180(8):833-5. doi: 10.1503/cmaj.081739.
3
Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia.缺血性中风/脑脓肿风险的主要决定因素与遗传性出血性毛细血管扩张症中肺动静脉畸形的严重程度无关。
Thorax. 2008 Mar;63(3):259-66. doi: 10.1136/thx.2007.087452. Epub 2007 Nov 2.
4
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.对137个意大利遗传性出血性毛细血管扩张症（HHT）家族的ENG和ACVRL1基因进行分析，发现了76种不同的突变（24种为新突变）。与其他欧洲研究的比较。
J Hum Genet. 2007;52(10):820-829. doi: 10.1007/s10038-007-0187-5. Epub 2007 Sep 5.
5
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.遗传性出血性毛细血管扩张症的基因型-表型相关性：来自法意遗传性出血性毛细血管扩张症网络的数据。
Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373.
6
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.在对200名接受遗传性出血性毛细血管扩张症（HHT）临床基因检测的个体进行的研究中，发现ENG和ACVRL1基因的新突变：基因型与表型的相关性。
Hum Mutat. 2006 Jul;27(7):667-75. doi: 10.1002/humu.20342.
7
Brain abscess associated with pulmonary angiomatous malformation.脑脓肿与肺血管畸形相关。
Ann Surg. 1953 Oct;138(4):521-31. doi: 10.1097/00000658-195310000-00005.
8
Brain abscess in patients with hereditary hemorrhagic telangiectasia: case report and literature review.遗传性出血性毛细血管扩张症患者的脑脓肿：病例报告及文献综述
J Emerg Med. 2001 Apr;20(3):247-51. doi: 10.1016/s0736-4679(00)00315-2.
9
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).遗传性出血性毛细血管扩张症（伦杜-奥斯勒-韦伯综合征）的诊断标准。
Am J Med Genet. 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p.
10
Disseminated infection due to Actinomyces meyeri: case report and review.迈耶放线菌引起的播散性感染：病例报告及文献复习
Clin Infect Dis. 1996 Apr;22(4):621-5. doi: 10.1093/clinids/22.4.621.

脑脓肿作为由一种新的ENG突变引起的遗传性出血性毛细血管扩张症患者的首发表现。

Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation.

作者信息

Chen Kai-Hsiang, Lin Chin-Hsien

机构信息

Department of Neurology, National Taiwan University Hospital, Hsin-Chu Branch, Hsinchu City, Taiwan.

出版信息

BMJ Case Rep. 2013 Feb 25;2013:bcr2013008802. doi: 10.1136/bcr-2013-008802.

DOI:10.1136/bcr-2013-008802
PMID:23440993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3604281/
Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a rare inherited autosomal-dominant vascular dysplasia involving multiple organs. Brain abscess is an uncommon and potential fatal complication. We report a case of HHT caused by a novel ENG mutation who initially presented as brain abscess. The patient, with a family history of epistaxis, presented with fever, headache and right-sided haemiparesis. Upon examination, brain MRI showed a contrast-enhanced abscess on the left fronto-parietal region. Open brain drainage was performed and pus culture yielded Actinomyces meyeri. The chest image revealed multiple pulmonary arterio-venous fistulas. HHT was diagnosed according to Curacao criteria. Genetic analysis revealed a novel duplication on exon 6 of ENG gene, which segregates with symptomatic subjects in her family. Clinicians should be cautiously aware of HHT as a differential diagnosis if patients presented with an unknown entry source of intracerebral infections.

摘要

遗传性出血性毛细血管扩张症（HHT）是一种罕见的常染色体显性遗传的血管发育异常疾病，累及多个器官。脑脓肿是一种不常见且可能致命的并发症。我们报告一例由新的ENG基因突变引起的HHT病例，该患者最初表现为脑脓肿。该患者有鼻出血家族史，出现发热、头痛和右侧偏瘫。经检查，脑部磁共振成像（MRI）显示左额顶叶区域有一个强化脓肿。进行了开颅引流，脓液培养出迈耶放线菌。胸部影像显示多个肺动静脉瘘。根据库拉索标准诊断为HHT。基因分析显示ENG基因第6外显子有一个新的重复，在其家族中与有症状的个体共分离。如果患者出现不明来源的颅内感染，临床医生应谨慎考虑将HHT作为鉴别诊断。