https://scholars.lib.ntu.edu.tw/handle/123456789/520071
標題: | Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation | 作者: | KAI-HSIANG CHEN CHIN-HSIEN LIN |
公開日期: | 2013 | 來源出版物: | BMJ Case Reports | 摘要: | 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. Copyright 2013 BMJ Publishing Group. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84876585437&doi=10.1136%2fbcr-2013-008802&partnerID=40&md5=8f725636a54fec3f60fbaf17b46de832 https://scholars.lib.ntu.edu.tw/handle/123456789/520071 |
ISSN: | 1757-790X | DOI: | 10.1136/bcr-2013-008802 | SDG/關鍵字: | ceftriaxone; metronidazole; ACVRL1 gene; adult; article; brain abscess; case report; clinical feature; congenital blood vessel malformation; differential diagnosis; DNA extraction; ENG gene; epistaxis; facial nerve paralysis; family history; female; fever; follow up; gene; gene amplification; gene duplication; gene mutation; gene sequence; headache; human; limb weakness; liver arteriovenous fistula; liver disease; medical history; neurologic examination; nuclear magnetic resonance imaging; polymerase chain reaction; priority journal; pulmonary arteriovenous fistula; recurrent disease; Rendu Osler Weber disease; slurred speech; thorax radiography; treatment duration; treatment response |
顯示於: | 醫學系 |
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