Korean J Gastroenterol.  2015 Jan;65(1):57-61. 10.4166/kjg.2015.65.1.57.

Osler-Weber-Rendu Disease Presenting as Recurrent Portosystemic Encephalopathy in a 75-year-old Female Patient

• Ha J
• Son BK
• Ahn SB
• Jo YK
• Kim SH
• Jo YJ
• Park YS
• Jung YY

• KMID: 2373182
• DOI: http://doi.org/10.4166/kjg.2015.65.1.57

Abstract

Osler-Weber-Rendu disease is a rare autosomal dominant disorder of fibrovascular tissues, characterized by a classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and a familial occurrence. Portosystemic encephalopathy in a patient with Osler-Weber-Rendu disease is rare, but we experienced a case presenting with recurrent portosystemic encephalopathy in Osler-Weber-Rendu disease. We report on a case of a 75-year-old female presenting with an altered mentality. Initial studies including brain imaging study did not reveal any specific cause for her mental status. She was diagnosed with the rare disease after a series of tests and received conservative treatment. Her neurological status recovered fully without complication after conservative treatment and she was discharged after 18 hospital days. This case demonstrated an extremely rare case of Osler-Weber-Rendu disease presenting as portosystemic encephalopathy treated successfully with conservative treatment. For patients who have shown hepatic encephalopathy without a definite cause, we recommend evaluation for the possibility of Osler-Weber-Rendu disease. Conservative treatment based on treatment of advanced liver cirrhosis could be an alternative solution.

Keyword

Hereditary hemorrhagic telangiectasia; Hepatic encephalopathy

MeSH Terms

Aged
Brain/diagnostic imaging
Electroencephalography
Female
Hepatic Encephalopathy/*diagnosis
Humans
Magnetic Resonance Imaging
Pedigree
Telangiectasia, Hereditary Hemorrhagic/*diagnosis
Tomography, X-Ray Computed
Vascular Malformations/etiology

Figure

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  Fig. 1. Familial pedigree of a patient. Pedigree shows an autosomal-dominant pattern of Owsler-Weber-Rendu disease affecting a family member in every generation.

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  Fig. 2. Abdominal CT findings. (A) Axial CT scan shows early opacification of portal and hepatic veins on arterial phase suggestive of presence of hepatic shunts (arrow). (B) Axial 3 phase CT scan image shows a dilated, tortuous hepatic artery with multiple aneurysmal dilatations consistent with findings of hereditary hemorrhagic telangiectasia (arrow). (C) Maximum intensity projection reconstructed image of axial CT scan shows multiple aneurysmal dilatations and dilatations of the hepatic artery, which are typical finding of hereditary hemorrhagic telangiectasia (arrow).

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  Fig. 3. Chest CT findings. Axial CT scan shows suspected arteriovenous malformation (arrow) in pulmonary vasculature suggesting pulmonary involvement in a patient.

Reference

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