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Rendu-Osler-Weber disease with portosystemic encephalopathy
H Okabe1, H Ishibashi, H Kimura
1First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Japanese Journal of Medicine
|August 1, 1987
Summary
Rendu-Osler-Weber disease can cause severe complications, including hyperammonemia and encephalopathy, due to liver shunts. This case highlights the link between liver telangiectasias and portosystemic shunting leading to neurological issues.
Area of Science:
- Hepatology
- Neurology
- Genetics
Background:
- Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia) is a genetic disorder affecting blood vessels.
- Patients often present with gastrointestinal bleeding, epistaxis, and potential organ damage.
- Recurrent encephalopathy with hyperammonemia is a rare but serious complication.
Observation:
- A Japanese man with Rendu-Osler-Weber disease experienced recurrent encephalopathy with hyperammonemia.
- Clinical presentation included epistaxis, GI bleeding, congestive heart failure, and chronic renal failure.
- Peritoneoscopy revealed liver surface telangiectasias.
Findings:
- Angiography demonstrated widened, tortuous hepatic arteries with early hepatic vein filling.
- Scattered contrast medium pools in the liver parenchyma suggested vascular abnormalities.
- The encephalopathy was attributed to a portosystemic shunt within the liver.
Implications:
- This case underscores the potential for portosystemic shunting in Rendu-Osler-Weber disease.
- Liver vascular malformations can lead to severe metabolic derangements and neurological complications.
- Early diagnosis and management of hepatic shunts are crucial for patients with this condition.