title: Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation.
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.
authors: Department of Neurology,  National Taiwan University Hospital, Hsin-Chu Branch, Hsinchu City,  Taiwan.
authors: Kai-Hsiang
authors: KH
authors: Chen
authors: Chin-Hsien
authors: CH
authors: Lin
mesh_terms: D000190:Actinomyces / Q000302:isolation & purification; D000196:Actinomycosis / Q000175:diagnosis / Q000209:etiology* / Q000382:microbiology; D000328:Adult; D015703:Antigens, CD / Q000235:genetics* / Q000378:metabolism; D001922:Brain Abscess / Q000175:diagnosis / Q000209:etiology* / Q000382:microbiology; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D000071063:Endoglin; D005091:Exons; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; D004247:DNA