1/2. Cardiovascular ochronosis: a case report and review of the medical literature.ochronosis is a rare disorder of tyrosine metabolism due to a deficiency of the enzyme homogentisic acid oxidase. The most common clinical manifestations include alkaptonuria, spondyloarthropathy, large joint arthritides and pigmentation of cartilage. Cardiac involvement may occur due to the deposition of polymerized homogentisic acid in the aortic, mitral and pulmonic valves. Usually, this leads to increasing rigidity and calcification. The only functionally significant valve lesion reported appears to be aortic stenosis. A possible link between ochronosis and coronary artery disease has been postulated. Further, a link between peripheral vascular disease and ochronosis may be present. We describe a case of ochronotic cardiovascular disease and review the literature on the subject.- - - - - - - - - - ranking = 1keywords = ochronosis (Clic here for more details about this article) |
2/2. Clinical, radiographic and echocardiographic findings in a patient with ochronosis.Hereditary alkaptonuric ochronosis is an autosomal recessive metabolic disorder that affects approximately one in one million individuals. The most common clinical features are homogentisic aciduria, pigmentation of cartilages and other connective tissues, ochronotic arthritis and cardiovascular ochronosis. We report a case of ochronosis which has all these clinical features mentioned above. We detected homogentisic acid in the patient's plasma and urine sample by using a high-performance liquid-chromatographic method. The patient was HLA-B27 negative. The case was evaluated with both conventional radiography and helical CT. The main characteristic manifestations of ochronotic arthritis were observed in conventional radiographs. We also obtained Ray-Sum and maximum intensity projections (MIP) images of ankylosed ochronotic spine of our patient. Such images of an ochronotic patient were not encountered in the literature. Echocardiographic examination revealed thickening of the right coronary cusp which may be related to ochronotic calcific deposition, along with coaptation deficiency and slight aortic regurgitation (grade I-II). No other abnormalities concerning the other valves and ventricular function were detected.- - - - - - - - - - ranking = 1.1666666666667keywords = ochronosis (Clic here for more details about this article) |