A case of Rendu-Osler-Weber disease with brain hemorrhages and portal-systemic encephalopathy
A 64-year-old woman was admitted because of abnormal behaviors. She had previous histories of recurrent epistaxis for 20 years and brain hemorrhages at the age of 51 and 58 years old. Her elder sister had episodes of recurrent hematemesis and telangiectasias of finger tips. Physical examination revealed multiple small telangiectasias of the tongue and finger tips. Flapping tremor of the upper extremities was seen. Laboratory examinations demonstrated hyperammonemia and an electroencephalogram showed triphasic waves compatible with hepatic encephalopathy. Angiographic studies revealed dilated hepatic arteries with early filling of hepatic veins. We made a diagnosis of Rendu-Osler-Weber disease (ROW disease) based on cutaneous telangiectasia, her previous history of repeated epistaxis, and a positive family history. We speculated that hepatic encephalopathy in the present case was caused by porto-systemic shunt due to ROW disease, and that recurrent brain hemorrhages had resulted from rupture of telangiectasias of the brain vessels.