Rendu-Osler-Weber Syndrome: Case Series

Activity: Talk or presentation types › Poster presentation

Description

Rendu-Osler-Weber disease or Hereditary Hemorrhagic Telangiectasia, is rare dominant autosomal disease characterized by the presence of multiple telangiectasia in skin and mucus, associated with arteriovenous malformations of various organ including lungs, gastrointestinal system and brain. There are two clinical cases, a 53-year-old man and a 32-year-old woman, who were acutely hospitalized in the emergency department. Woman complained about a headache and fever. She had a history of spontaneous subarachnoid hemorrhage. The patient's father died at the age of 23 from a hemorrhagic stroke. On neurological examination, the patient has only positive meningeal symptoms. Man complained about coordination disturbances and general weakness and denied having a fever. On neurological examination the patient was unstable in the Romberg posture and bilateral ataxia was observed. In computer tomography both patients were found to have abnormal masses in the brain, most likely a tumor. The patient's condition worsened rapidly in the hospital, a head computer tomography was performed, where diffuse cerebral edema was visualized, emergency ventriculostomies were performed. When the patient's condition stabilized, osteoplasty trepanation was performed, biopsy was taken. In the biopsy, there was no convincing data about a neoplastic process. After examination masses turned out to be brain abscesses. Patients underwent computer tomography angiography of the lungs, arteriovenous fistulas were visualized. In both patients, it was decided to perform endovascular embolization of the pulmonary arteriovenous fistula. After the procedure, the general condition of the patients improved. The findings indicated that the patients most likely have Hereditary Hemorrhagic Telangiectasia. Syndrome was genetically confirmed for the woman.With suspicion of Hereditary Hemorrhagic Telangiectasia, timely investigation, including computed tomography angiography of the lungs, is important to initiate timely treatment and improve outcome. It is important to consider that a brain abscess is one of the first signs of a pulmonary arteriovenous fistula. . .. .. .
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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