Angiographic findings in homocystinuria.
Homocystinuria (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, mental retardation, and skeletal abnormalities. Vascular disorders may also occur in HC, although they are less common. Arteriographic studies of two sisters with HC are described. The younger woman's renal arteries showed wall irregularities and aneurysms, narrowing of the celiac and superior mesenteric arteries, and some aneurysmatic changes. In the older patient, irregular right carotid and splenic arteries were seen and a splenic aneurysm was present.
D000328:Adult; D000792:Angiography; D002339:Carotid Arteries / Q000000981:diagnostic imaging; D002445:Celiac Artery / Q000000981:diagnostic imaging; D005260:Female; D006712:Homocystinuria / Q000150:complications / Q000000981:diagnostic imaging*; D006801:Humans; D008638:Mesenteric Arteries / Q000000981:diagnostic imaging; D012077:Renal Artery / Q000000981:diagnostic imaging; D013157:Splenic Artery / Q000000981:diagnostic imaging