England Ryan W, Weiss Clifford R
Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins Hospital, 1800 Orleans Street, Zayed Tower 7203, Baltimore, MD 21287, USA.
Radiol Case Rep. 2020 Aug 3;15(10):1759-1763. doi: 10.1016/j.radcr.2020.07.026. eCollection 2020 Oct.
Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu syndrome) is an inherited vascular disorder with a spectrum of clinical manifestations depending on lesion distribution. Epistaxis, mucocutaneous telangiectasia, and gastrointestinal bleeding are most common. Patients with pulmonary arteriovenous malformations are at serious risk of cerebral embolic stroke and abscess due to paradoxical embolism, indicating the need for early diagnosis and intervention. Herein, we report a 14-year-old boy who presented to his pediatrician's office with hypoxemia and personal history of epistaxis, family history of HHT, and radiologic workup demonstrating pulmonary and cerebral arteriovenous malformations. He was diagnosed with HHT and treated by endovascular embolization.
