Family History of Headache and Epistaxis Associated with Ischemic Stroke

Eu Jene Choi; Dong Goo Lee; Do-Hyung Kim; Sang Hyun Jang

doi:10.4274/tnd.2020.48902

Eu Jene Choi¹, Dong Goo Lee², Do-Hyung Kim³, Sang Hyun Jang³

¹Ulsan University Hospital, Ulsan University College of Medicine, Department of Neurology, Ulsan, Republic of Korea
²The University of British Columbia Faculty of Medicine, Department of Neurology, Vancouver, Canada
³Daejeon Eulji Medical Center, Eulji University, Department of Neurology, Daejeon, Republic of Korea

Keywords: Pulmonary arteriovenous malformation, transient ischemic attack, hereditary hemorrhagic telangiectasia, transcranial Doppler, endoglin gene mutation

Abstract

A 34-year-old woman presented to the emergency room with symptoms of transient right arm weakness, hemoptysis, headache, and seeing stars. She revealed a long history of epistaxis. Despite receiving electro-coagulation therapy twice, her epistaxis redeveloped. We examined her chest and brain using computed tomography (CT) and magnetic resonance imaging (MRI). Her chest CT scan showed an arteriovenous malformation (AVM) in the right apex and the right lower lung, and the brain MRI indicated an AVM in her frontal head. After the surgical treatment of her pulmonary AVMs, her epistaxis was significantly improved. In addition, her pedigree suggested that her condition might be hereditary. Further investigations revealed that she had hereditary hemorrhagic telangiectasia (HHT) with mutations in the endoglin gene. Both the patient and her mother were affected. It is known that pulmonary arteriovenous fistulas (PAVFs) can cause intrapulmonary right-to-left shunts, which can lead to transient ischemic attacks. However, PAVFs may also cause critical neurologic disorders such as permanent hemiparesis, brain abscesses, and meningoencephalitis when not adequately treated. This case study demonstrates the need for surgical intervention to control pulmonary AVMs and their associated neurologic complications. Furthermore, patients with recurrent epistaxis or hemoptysis with a family history may benefit from genetic testing for HHT.