{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T18:13:31Z","timestamp":1759342411293,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"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<\/jats:italic> 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<\/jats:italic>. 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<\/jats:italic> 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.<\/jats:p>","DOI":"10.1136\/bcr-2013-008802","type":"journal-article","created":{"date-parts":[[2013,2,26]],"date-time":"2013-02-26T01:28:21Z","timestamp":1361842101000},"page":"bcr2013008802","source":"Crossref","is-referenced-by-count":6,"title":["Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG<\/i> mutation"],"prefix":"10.1136","volume":"2013","author":[{"given":"Kai-Hsiang","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Hsin-Chu Branch, Hsinchu City, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin-Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,2,25]]},"reference":[{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.1","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.081739"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1996.00440070028004"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1294-345"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-189"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.5","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1016\/S0021-9258(17)42126-0","article-title":"Endoglin forms a heteromeric complex with the signaling receptors for transforming growth factor-beta","volume":"269","author":"Yamashita","year":"1994","journal-title":"J Biol Chem"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510053331407"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.7","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040207"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0736-4679(00)00315-2"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.9","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1994.81.2.0294"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.10","doi-asserted-by":"publisher","DOI":"10.1128\/JCM.06658-11"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.11","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2007.087452"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.13","doi-asserted-by":"publisher","DOI":"10.1159\/000110257"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.14","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1097\/00000658-195310000-00005","article-title":"Brain abscess associated with pulmonary angiomatous malformation","volume":"138","author":"Stern","year":"1953","journal-title":"Ann Surg"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.15","doi-asserted-by":"publisher","DOI":"10.1007\/BF01406617"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.16","doi-asserted-by":"publisher","DOI":"10.1093\/clinids\/22.4.621"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20342"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.18","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1097\/GIM.0b013e31802d8373","article-title":"Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network","volume":"9","author":"Lesca","year":"2007","journal-title":"Genet Med"},{"key":"2025082700472737000_2013.feb25_1.bcr2013008802.19","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0187-5"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-008802","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:47:36Z","timestamp":1756280856000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-008802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,25]]},"references-count":19,"alternative-id":["10.1136\/bcr-2013-008802"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-008802","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,2,25]]}}}