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[RENDU-OSLER DISEASE: A RARE CAUSE OF AMMONIA ENCEPHALOPATHY]

R Dumont, J-P Loly, J Delwaide

    Revue Medicale De Liege
    |May 5, 2016
    PubMed

    Hereditary Hemorrhagic Telangiectasia (HHT) also known as Rendu-Osler disease is a group of related disorders inherited in an autosomal dominant fashion and characterized by the development of arteriovenous malformations (AVM) in the skin, mucous membranes, and/or internal organs such as the brain, lungs, and liver. The prevalence of liver involvement is clinically estimated between 8 and 31 percent. It can be revealed by the following clinical signs : ascites, edema of the lower extremities, abdominal pain, dyspnea, and, rarely, hepatic encephalopathy and gastrointestinal bleeding associated with portal hypertension. This case illustrates the highlight of liver damage revealed by an ammonia encephalopathy associated with iconographic anomalies on ultrasonography and magnetic resonance liver as part of Rendu-Osler disease.

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