HOMOCYSTINURIA PRESENTING WITH PORTAL-VEIN THROMBOSIS AND PANCREATIC PSEUDOCYST - A CASE-REPORT

Homocystinuria is a rare, inherited metabolic disease frequently assoc iated with severe multisystemic involvement such as dislocated lenses, skeletal deformities, mental retardation, and premature vascular occl usion. Arterial and venous thromboembolic events present frequent and life-threatening complications in homocystinuric patients. It has been suggested that mild homocystinemia would be a risk factor for vascula r disease. We report a 10-year-old girl with homocystinuria who develo ped portal vein thrombosis, liver infarction, and pancreatic pseudocys t due to pancreatitis. Possible pathophysiologic mechanisms and sugges ted treatment are described.