Colour-Doppler features of hepatic involvement in Rendu-Osler-Weber disease

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Severe Hepatic and Pulmonary Involvement in Rendu-Osler-Weber Syndrome

We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement.

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Rendu-Osler-Weber Disease: transthoracic Doppler ultrasonographic findings.

A75-year-old man was admitted to the hospital because of transient unconsciousness and dysarthria. Brain CT and MRI demonstrated a recent cerebellar infarction. Physical examination revealed a continuous extracardiac murmur maximally auscultated (Levine III) between the inner edge of the right scapula and the upper thoracic vertebrae. Color Doppler thoracic ultrasonography recorded at this poin...

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Spontaneous haemothorax in Osler-Weber-Rendu disease.

A case of hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu disease) is described who presented with severe, central chest pain mimicking acute myocardial infarction, a presentation which has not been described before. He was found to have developed spontaneous haemothorax which is a very rare complication of this disease.

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Osler-Weber-Rendu Syndrome.

Telangiectasia may be identified by visual inspection during physical examination of the skin and oral cavity or by endoscopy. Diagnosis is made after clinical examination and genetic testing based on the Curacao criteria: telangiectasia in the face, hands or oral cavity; recurrent epistaxis; arteriovenous malformations with visceral involvement; and a positive family history. Diagnosis is conf...

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Osler-Weber-Rendu Syndrome

Presentation Age-related penetrance is seen in HHT. [2] It does not present at birth but commonly presents with recurrent epistaxis, usually in the teenage years. People with the condition develop mucocutaneous lesions, usually involving the nasal mucosa, lips and tongue. These lesions are sharply demarcated red-purple macules, papules or spider-like lesions comprising a mat of tortuous vessels...

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ژورنال

عنوان ژورنال: Revista Española de Enfermedades Digestivas

سال: 2013

ISSN: 1130-0108

DOI: 10.4321/s1130-01082013001000007