Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations and a cerebral abscess as a complication: A case report

Abstract

Introduction: Hereditary hemorrhagic telangiectasia (HHT) also known as Osler–Weber–Rendu syndrome is a relatively common, under-recognized autosomal-dominant disorder that results from multisystem vascular dysplasia. It is characterized by telangiectasis and arteriovenous malformations of skin, mucosa, and viscera. Case Report: A 26-year-old man presented with an 8-day history of headache, fever, cough, right hemiparesis, motor dysphasia, and dysgraphia. The urgent brain computed tomography (CT) scan revealed a bulky rounded left frontal lobe lesion, with peripheral contrast enhancement and marked perilesional edema, indicating a brain abscess or metastasis. A brain magnetic resonance imaging showed an intra-axial hypovascular round enhancing left frontal lobe lesion, with pronounced perilesional edema. Laboratory findings discovered severe polycythemia with normal level of erythropoietin and gas analysis of blood revealed hypoxemia of secondary cause. Computed tomography of the lungs suggested pulmonary arteriovenous malformations (AVMs) in the right and left lung. Contrast-enhanced chest CT scan confirmed AVM of the lungs, while abdominal CT scan ruled out AVM of the liver. The brain abscess was treated neurosurgically. The patient reported positive family history of epistaxis. Conclusion: Brain abscess may be the first manifestation of HHT and early clinical recognition of HHT in patients with positive family history of epistaxis may help to prevent complications. Keywords: Arteriovenous malformations, Brain abscess, Hereditary hemorrhagic telangiectasia, Hypoxemia, Polycythemia