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A challenging case of anemia, respiratory failure and seizures.
Acta Bio-medica : Atenei Parmensis 2022 September 22
BACKGROUND: Hemorrhagic Hereditary Telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a rare genetic disorder characterized by mucocutaneous telangiectasias and visceral arteriovenous malformations.
AIM AND METHODS: We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms.
RESULTS: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT.
CONCLUSIONS: HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.
AIM AND METHODS: We describe the case of a 64-year old woman in which radiology was useful to interpret an apparently unexplained constellation of symptoms.
RESULTS: Brain MRI showing ischemic stroke, pulmonary angiography demonstrating arteriovenous malformations, and capsule endoscopy detecting telangiectasias in the jejunum, along with a clinical history of recurrent epistaxis, allowed us to diagnose HHT.
CONCLUSIONS: HHT is rare and difficult to diagnose. Radiology can aid the clinical suspicion. www.actabiomedica.it.
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